부산대학교 도서관

Tatiana Bremova-Ertl; Uma Ramaswami; Marion Brands; Tomas Foltan; Matthias Gautschi; Paul Gissen; Francesca Gowing; Andreas Hahn; Simon Jones; Richard Kay; Miriam Kolnikova; Laila Arash-Kaps; Thorsten Marquardt; Eugen Mengel; Julien H. Park; Stella Reichmannová; Susanne A. Schneider; Siyamini Sivananthan; Mark Walterfang; Pierre Wibawa; Michael Strupp; Kyriakos Martakis

New England Journal of Medicine. 390:421-431

Tatiana Bremova-Ertl; Matthias Gautschi; Paul Gissen; Andreas Hahn; Simon Jones; Eugen Mengel; Laila Arash-Kaps; Grecia Mendoza; Julien H. Park; Uma Ramaswami; Kyriakos Martakis; Marion Brands

Molecular Genetics and Metabolism. 144:108664

Mani L; SphinCS - Klinisches Forschungsinstitut für Lysosomale Krankheiten, Geheimrat-Hummel-Platz 2, 65239, Hochheim, Germany. latha.mani@sphincs.de.; Mendoza Rios G; SphinCS - Klinisches Forschungsinstitut für Lysosomale Krankheiten, Geheimrat-Hummel-Platz 2, 65239, Hochheim, Germany.; Gutierrez A; SphinCS - Klinisches Forschungsinstitut für Lysosomale Krankheiten, Geheimrat-Hummel-Platz 2, 65239, Hochheim, Germany.; Arash-Kaps L; SphinCS - Klinisches Forschungsinstitut für Lysosomale Krankheiten, Geheimrat-Hummel-Platz 2, 65239, Hochheim, Germany.; Mengel E; SphinCS - Klinisches Forschungsinstitut für Lysosomale Krankheiten, Geheimrat-Hummel-Platz 2, 65239, Hochheim, Germany.

Publisher: Springer Country of Publication: Germany NLM ID: 100893959 Publication Model: Print Cited Medium: Internet ISSN: 1613-3560 (Electronic) Linking ISSN: 14383276 NLM ISO Abbreviation: MMW Fortschr Med Subsets: MEDLINE; In Process

Bremova-Ertl, T.; Rarnaswami, U.; Brands, M.; Foltan, T.; Gautschi, M.; Gissen, P.; Gowing, F.; Hahn, A.; Jones, S.; Kay, R.; Kolnikova, M.; Arash-Kaps, L.; Marquardt, T.; Mengel, E.; Park, J. H.; Reichmannová, S.; Schneider, S. A.; Sivananthan, S.; Walterfang, M.; Wibawa, P.; et al

New England Journal of Medicine (N ENGL J MED), 2/1/2024; 390(5): 421-431. (11p)

Wasserstein M.; Lachmann R.; Hollak C.; Arash-Kaps L.; Barbato A.; Gallagher R. C.; Giugliani R.; Guelbert N. B.; Ikezoe T.; Lidove O.; Mabe P.; Mengel E.; Scarpa M.; Senates E.; Tchan M.; Villarrubia J.; Chen Y.; Furey S.; Thurberg B. L.; Zaher A.; Kumar M.

Genetics in Medicine. 24:1425-1436

M Marina; G Mendoza; A Gutierrez; L Arash-Kaps; K E Mengel

Nervenheilkunde. 44:164-164

Kampmann C; Department of Pediatric Cardiology and Structural Heart Diseases, Center for Diseases in Childhood and Adolescence, University Medicine Mainz, Mainz, Germany.; Lampe C; Department of Child Neurology, Epileptology and Social Medicine, University Hospital Giessen, Giessen, Germany.; Wiethoff CM; Department of Pediatric Cardiology and Structural Heart Diseases, Center for Diseases in Childhood and Adolescence, University Medicine Mainz, Mainz, Germany.; Arash-Kaps L; SphinCS, Institute of Clinical Science in LSD, Hochheim, Germany.; Mengel E; SphinCS, Institute of Clinical Science in LSD, Hochheim, Germany.; Reinke J; Medical center for adults with disabilities, Kreuznacher Diakonie, Bad Kreuznach, Germany.; Beck M; SphinCS, Institute of Clinical Science in LSD, Hochheim, Germany.; Hennermann JB; Department of Metabolic Diseases, Villa Metabolica, Center for Diseases in Childhood and Adolescence, University Medicine Mainz, Mainz, Germany.; Abu-Tair T; Department of Pediatric Cardiology and Structural Heart Diseases, Center for Diseases in Childhood and Adolescence, University Medicine Mainz, Mainz, Germany.

Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

Park J; Department of General Paediatrics, University of Münster, 48149, Münster, Germany. Julien.Park@ukmuenster.de.; Bremova-Ertl T; Department of Neurology, University Hospital Bern (Inselspital), Bern, Switzerland.; Brands M; Department of Paediatric Metabolic Disease, Amsterdam University Medical Center, Amsterdam, Netherlands.; Foltan T; Department of Pediatric Neurology, National Institute of Children's Diseases, Comenius University in Bratislava, Bratislava, Slovak Republic.; Gautschi M; Division of Paediatric Endocrinology, Diabetology and Metabolism, Department of Paediatrics, and Institute of Clinical Chemistry, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.; Gissen P; NIHR Great Ormond Street Hospital Biomedical Research Centre, University College London, London, UK.; Hahn A; Department of Child Neurology, Justus Liebig University, Giessen, Germany.; Jones S; Willink Unit, Manchester Centre for Genomic Medicine, Royal Manchester Children's Hospital, University of Manchester, Manchester, UK.; Arash-Kaps L; SphinCS-Institute of Clinical Science in Lysosomal Storage Disorders, Hochheim, Germany.; Kolnikova M; Department of Pediatric Neurology, National Institute of Children's Diseases, Comenius University in Bratislava, Bratislava, Slovak Republic.; Patterson M; Departments of Neurology, Pediatrics and Clinical Genomics, Mayo Clinic Children's Center, Rochester, MN, USA.; Perlman S; Department of Neurology, University of California, Los Angeles, CA, USA.; Ramaswami U; Lysosomal Storage Disorder Unit, Royal Free London NHS Foundation Trust, London, UK.; Reichmannová S; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.; Rohrbach M; Division of Metabolism, University Children's Hospital and Children's Research Centre, Zurich, Switzerland.; Schneider SA; Department of Neurology, Ludwig Maximilians University, Munich, Germany.; Shaikh A; Department of Neurology, Case Western Reserve University School of Medicine, Cleveland, OH, USA.; Sivananthan S; NIHR Great Ormond Street Hospital Biomedical Research Centre, University College London, London, UK.; Synofzik M; Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.; Walterfarng M; Department of Neuropsychiatry, The Royal Melbourne Hospital, Melbourne, VIC, Australia.; Wibawa P; Department of Neuropsychiatry, The Royal Melbourne Hospital, Melbourne, VIC, Australia.; Martakis K; Department of Child Neurology, Justus Liebig University, Giessen, Germany.; Department of Pediatrics, Medical Faculty and University Hospital, University of Cologne, Cologne, Germany.; Manto M; Unité Des Ataxies Cérébelleuses, Service de Neurologie, Médiathèque Jean Jacquy, CHU-Charleroi, 6000, Charleroi, Belgium.

Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 0423161 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1459 (Electronic) Linking ISSN: 03405354 NLM ISO Abbreviation: J Neurol Subsets: MEDLINE

M. Lenders; D. Oder; A. Nowak; S. Canaan‐Kühl; L. Arash‐Kaps; C. Drechsler; B. Schmitz; P. Nordbeck; J. B. Hennermann; C. Kampmann; S. Reuter; S.‐M. Brand; C. Wanner; E. Brand

Journal of Internal Medicine. 282:241-253

Lenders, M.; Oder, D.; Nowak, A.; Canaan‐Kühl, S.; Arash‐Kaps, L.; Drechsler, C.; Schmitz, B.; Nordbeck, P.; Hennermann, J. B.; Kampmann, C.; Reuter, S.; Brand, S.‐M.; Wanner, C.; Brand, E.

Journal of Internal Medicine. Sep 01, 2017 282(3):241-253

Melissa Wasserstein; Laila Arash-Kaps; Antonio Barbato; Renata C. Gallagher; Roberto Giugliani; Norberto B. Guelbert; Carla Hollak; Takayuki Ikezoe; Robin Lachmann; Oliver Lidove; Paulina Mabe; Eugen Mengel; Maurizio Scarpa; Ebubekir Senates; Michel Tchan; Jesus Villarrubia; Yixin Chen; Patricia A. Fraser; Beth L. Thurberg; Atef Zaher; Monica Kumar

Molecular Genetics and Metabolism. 132:S110

Muschol NM; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Martinistr. 52, 20246, Hamburg, Germany.; Pape D; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Martinistr. 52, 20246, Hamburg, Germany.; Kossow K; Department of Medical Psychology, University Medical Center Hamburg-Eppendorf, Martinistr. 52, 20246, Hamburg, Germany.; Ullrich K; Martin Zeitz Center for Rare Diseases, University Medical Center Hamburg-Eppendorf, Martinistr.52, 20246, Hamburg, Germany.; Arash-Kaps L; Villa Metabolica, Department of Pediatric and Adolescent Medicine, University Medical Center Mainz, Langenbeckstr. 1, 55131, Mainz, Germany.; Hennermann JB; Villa Metabolica, Department of Pediatric and Adolescent Medicine, University Medical Center Mainz, Langenbeckstr. 1, 55131, Mainz, Germany.; Stücker R; Department of Pediatric Orthopedics, Altonaer Children's Hospital, Bleickenallee 38, 22763, Hamburg, Germany.; Department of Orthopedics, University Medical Center Hamburg-Eppendorf, Martinistr. 52, 20246, Hamburg, Germany.; Breyer SR; Department of Pediatric Orthopedics, Altonaer Children's Hospital, Bleickenallee 38, 22763, Hamburg, Germany. sandra.breyer@kinderkrankenhaus.net.; Department of Orthopedics, University Medical Center Hamburg-Eppendorf, Martinistr. 52, 20246, Hamburg, Germany. sandra.breyer@kinderkrankenhaus.net.

Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

Hennermann JB; Villa Metabolica, Department of Pediatric and Adolescent Medicine, University Medical Center Mainz, Mainz, Germany.; Arash-Kaps L; Villa Metabolica, Department of Pediatric and Adolescent Medicine, University Medical Center Mainz, Mainz, Germany.; Fekete G; II. Department of Pediatrics, Semmelweis University, Budapest, Hungary.; Schaaf A; Greenovation Biotech GmbH, Freiburg, Germany.; Busch A; Greenovation Biotech GmbH, Freiburg, Germany.; Frischmuth T; Greenovation Biotech GmbH, Freiburg, Germany.

Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

Ries M; Pediatric Neurology and Metabolic Medicine, Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany; Center for Rare Disorders, Heidelberg University Hospital, Heidelberg, Germany; Center for Virtual Patients, Heidelberg Faculty of Medicine, Heidelberg, Germany. Electronic address: markus.ries@uni-heidelberg.de.; Mendoza G; SphinCS - Institute for Clinical Research in Lysosomal Storage Disorders, Hochheim, Germany.; Arash-Kaps L; SphinCS - Institute for Clinical Research in Lysosomal Storage Disorders, Hochheim, Germany.; Amraoui Y; SphinCS - Institute for Clinical Research in Lysosomal Storage Disorders, Hochheim, Germany.; Quack F; Hand in Hand against Tay-Sachs and Sandhoff disease in Germany, Höchberg, Germany.; Hardt B; Hand in Hand against Tay-Sachs and Sandhoff disease in Germany, Höchberg, Germany.; Diederich S; Institute of Human Genetics, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany.; Beck M; SphinCS - Institute for Clinical Research in Lysosomal Storage Disorders, Hochheim, Germany.; Mengel E; SphinCS - Institute for Clinical Research in Lysosomal Storage Disorders, Hochheim, Germany.

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Matlach J; Department of Ophthalmology, University Medical Center, Johannes Gutenberg University Mainz, Mainz, Germany. juliane.matlach@unimedizin-mainz.de.; Zindel T; Department of Ophthalmology, University Medical Center, Johannes Gutenberg University Mainz, Mainz, Germany.; Amraoui Y; Department of Pediatrics, University Medical Center, Johannes Gutenberg University Mainz, Mainz, Germany.; Arash-Kaps L; Department of Pediatrics, University Medical Center, Johannes Gutenberg University Mainz, Mainz, Germany.; Hennermann JB; Department of Pediatrics, University Medical Center, Johannes Gutenberg University Mainz, Mainz, Germany.; Pitz S; Department of Ophthalmology, University Medical Center, Johannes Gutenberg University Mainz, Mainz, Germany.; Orbital Center, Ophthalmic Clinic, Bürgerhospital, Frankfurt, Germany.

Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

Arash-Kaps L; Villa Metabolica, Department of Pediatric and University Medical Center Mainz, Germany.; Komlosi K; Adolescent Medicine, and Institute of Human Genetics, University Medical Center Mainz, Germany.; Seegräber M; Villa Metabolica, Department of Pediatric and University Medical Center Mainz, Germany.; Diederich S; Adolescent Medicine, and Institute of Human Genetics, University Medical Center Mainz, Germany.; Paschke E; University Children's Hospital Graz, Austria.; Amraoui Y; Villa Metabolica, Department of Pediatric and University Medical Center Mainz, Germany.; Beblo S; Department of Women and Child Health, Hospital for Children and Adolescents, Centre for Paediatric Research Leipzig (CPL), University Hospitals, University of Leipzig, Leipzig.; Dieckmann A; Center for Inborn Metabolic Disorders, Department of Neuropediatrics, Jena University Hospital, Jena.; Smitka M; Neuropediatric Department, Carl Gustav Carus University Children's Hospital Dresden, Germany.; Hennermann JB; Villa Metabolica, Department of Pediatric and University Medical Center Mainz, Germany.

Publisher: Mosby Country of Publication: United States NLM ID: 0375410 Publication Model: Print Cited Medium: Internet ISSN: 1097-6833 (Electronic) Linking ISSN: 00223476 NLM ISO Abbreviation: J Pediatr Subsets: MEDLINE

Dimachkie MM; From the University of Kansas Medical Center (M.M.D., R.J.B.), Kansas City; University of Missouri (R.J.B.), Columbia; University of Florida (B.B.), Gainesville; LDRTC (O.G.-A.), Fairfax, VA; Duke University Medical Center (P.S.K., L.D.M.P.), Durham, NC; Barrow Neurological Institute (S.L.), Phoenix, AZ; Centre de Référence des Maladies Neuromusculaires Nord/Est/Ile de France Service de Neurologie (P.L.), Hôpital Raymond-Poincaré, Garches, AP-HP and INSERM U1179, Université Versailles Saint-Quentin-en-Yvelines, Montigny-le-Bretonneux; SphinCS GmbH (K.E.M.), Institute of Clinical Science for LSD, Hochheim, Germany; Cincinnati Children's Hospital Medical Center and University of Cincinnati College of Medicine (L.D.M.P.), OH; Neuromuscular Diseases Centre (S.S.), Department of Clinical Neurosciences, University Hospital of Nice (CHU), France; Newcastle University John Walton Muscular Dystrophy Research Centre (V.S.), Newcastle Hospitals NHS Foundation Trust, United Kingdom; University of Texas Southwestern Medical Center (J.T.), Dallas; Department of Neurosciences (P.V.D.), KU Leuven (Catholic University of Leuven), VIB-Center for Brain & Disease Research, and Department of Neurology, University Hospitals Leuven, Belgium; Erasmus MC University Medical Center (A.T.v.d.P.), Pompe Center & Center for Lysosomal and Metabolic Diseases, Rotterdam, the Netherlands; Copenhagen Neuromuscular Center (J.V.), Rigshospitalet, University of Copenhagen, Denmark; Department of Neurology (P.Y.), Medical Park Bad Feilnbach, Germany; Sanofi (K.A.H., P.M.), Chilly-Mazarin, France; Sanofi (M.F., T.Z.), Cambridge, MA; Elevate Medical Affairs (J.M.G.), Horsham, United Kingdom; Sanofi (O.V.), Montpellier, France; and Friedrich-Baur-Institut (B.S.), Department of Neurology Klinikum München, Germany. mdimachkie@kumc.edu.; Barohn RJ; From the University of Kansas Medical Center (M.M.D., R.J.B.), Kansas City; University of Missouri (R.J.B.), Columbia; University of Florida (B.B.), Gainesville; LDRTC (O.G.-A.), Fairfax, VA; Duke University Medical Center (P.S.K., L.D.M.P.), Durham, NC; Barrow Neurological Institute (S.L.), Phoenix, AZ; Centre de Référence des Maladies Neuromusculaires Nord/Est/Ile de France Service de Neurologie (P.L.), Hôpital Raymond-Poincaré, Garches, AP-HP and INSERM U1179, Université Versailles Saint-Quentin-en-Yvelines, Montigny-le-Bretonneux; SphinCS GmbH (K.E.M.), Institute of Clinical Science for LSD, Hochheim, Germany; Cincinnati Children's Hospital Medical Center and University of Cincinnati College of Medicine (L.D.M.P.), OH; Neuromuscular Diseases Centre (S.S.), Department of Clinical Neurosciences, University Hospital of Nice (CHU), France; Newcastle University John Walton Muscular Dystrophy Research Centre (V.S.), Newcastle Hospitals NHS Foundation Trust, United Kingdom; University of Texas Southwestern Medical Center (J.T.), Dallas; Department of Neurosciences (P.V.D.), KU Leuven (Catholic University of Leuven), VIB-Center for Brain & Disease Research, and Department of Neurology, University Hospitals Leuven, Belgium; Erasmus MC University Medical Center (A.T.v.d.P.), Pompe Center & Center for Lysosomal and Metabolic Diseases, Rotterdam, the Netherlands; Copenhagen Neuromuscular Center (J.V.), Rigshospitalet, University of Copenhagen, Denmark; Department of Neurology (P.Y.), Medical Park Bad Feilnbach, Germany; Sanofi (K.A.H., P.M.), Chilly-Mazarin, France; Sanofi (M.F., T.Z.), Cambridge, MA; Elevate Medical Affairs (J.M.G.), Horsham, United Kingdom; Sanofi (O.V.), Montpellier, France; and Friedrich-Baur-Institut (B.S.), Department of Neurology Klinikum München, Germany.; Byrne B; From the University of Kansas Medical Center (M.M.D., R.J.B.), Kansas City; University of Missouri (R.J.B.), Columbia; University of Florida (B.B.), Gainesville; LDRTC (O.G.-A.), Fairfax, VA; Duke University Medical Center (P.S.K., L.D.M.P.), Durham, NC; Barrow Neurological Institute (S.L.), Phoenix, AZ; Centre de Référence des Maladies Neuromusculaires Nord/Est/Ile de France Service de Neurologie (P.L.), Hôpital Raymond-Poincaré, Garches, AP-HP and INSERM U1179, Université Versailles Saint-Quentin-en-Yvelines, Montigny-le-Bretonneux; SphinCS GmbH (K.E.M.), Institute of Clinical Science for LSD, Hochheim, Germany; Cincinnati Children's Hospital Medical Center and University of Cincinnati College of Medicine (L.D.M.P.), OH; Neuromuscular Diseases Centre (S.S.), Department of Clinical Neurosciences, University Hospital of Nice (CHU), France; Newcastle University John Walton Muscular Dystrophy Research Centre (V.S.), Newcastle Hospitals NHS Foundation Trust, United Kingdom; University of Texas Southwestern Medical Center (J.T.), Dallas; Department of Neurosciences (P.V.D.), KU Leuven (Catholic University of Leuven), VIB-Center for Brain & Disease Research, and Department of Neurology, University Hospitals Leuven, Belgium; Erasmus MC University Medical Center (A.T.v.d.P.), Pompe Center & Center for Lysosomal and Metabolic Diseases, Rotterdam, the Netherlands; Copenhagen Neuromuscular Center (J.V.), Rigshospitalet, University of Copenhagen, Denmark; Department of Neurology (P.Y.), Medical Park Bad Feilnbach, Germany; Sanofi (K.A.H., P.M.), Chilly-Mazarin, France; Sanofi (M.F., T.Z.), Cambridge, MA; Elevate Medical Affairs (J.M.G.), Horsham, United Kingdom; Sanofi (O.V.), Montpellier, France; and Friedrich-Baur-Institut (B.S.), Department of Neurology Klinikum München, Germany.; Goker-Alpan O; From the University of Kansas Medical Center (M.M.D., R.J.B.), Kansas City; University of Missouri (R.J.B.), Columbia; University of Florida (B.B.), Gainesville; LDRTC (O.G.-A.), Fairfax, VA; Duke University Medical Center (P.S.K., L.D.M.P.), Durham, NC; Barrow Neurological Institute (S.L.), Phoenix, AZ; Centre de Référence des Maladies Neuromusculaires Nord/Est/Ile de France Service de Neurologie (P.L.), Hôpital Raymond-Poincaré, Garches, AP-HP and INSERM U1179, Université Versailles Saint-Quentin-en-Yvelines, Montigny-le-Bretonneux; SphinCS GmbH (K.E.M.), Institute of Clinical Science for LSD, Hochheim, Germany; Cincinnati Children's Hospital Medical Center and University of Cincinnati College of Medicine (L.D.M.P.), OH; Neuromuscular Diseases Centre (S.S.), Department of Clinical Neurosciences, University Hospital of Nice (CHU), France; Newcastle University John Walton Muscular Dystrophy Research Centre (V.S.), Newcastle Hospitals NHS Foundation Trust, United Kingdom; University of Texas Southwestern Medical Center (J.T.), Dallas; Department of Neurosciences (P.V.D.), KU Leuven (Catholic University of Leuven), VIB-Center for Brain & Disease Research, and Department of Neurology, University Hospitals Leuven, Belgium; Erasmus MC University Medical Center (A.T.v.d.P.), Pompe Center & Center for Lysosomal and Metabolic Diseases, Rotterdam, the Netherlands; Copenhagen Neuromuscular Center (J.V.), Rigshospitalet, University of Copenhagen, Denmark; Department of Neurology (P.Y.), Medical Park Bad Feilnbach, Germany; Sanofi (K.A.H., P.M.), Chilly-Mazarin, France; Sanofi (M.F., T.Z.), Cambridge, MA; Elevate Medical Affairs (J.M.G.), Horsham, United Kingdom; Sanofi (O.V.), Montpellier, France; and Friedrich-Baur-Institut (B.S.), Department of Neurology Klinikum München, Germany.; Kishnani PS; From the University of Kansas Medical Center (M.M.D., R.J.B.), Kansas City; University of Missouri (R.J.B.), Columbia; University of Florida (B.B.), Gainesville; LDRTC (O.G.-A.), Fairfax, VA; Duke University Medical Center (P.S.K., L.D.M.P.), Durham, NC; Barrow Neurological Institute (S.L.), Phoenix, AZ; Centre de Référence des Maladies Neuromusculaires Nord/Est/Ile de France Service de Neurologie (P.L.), Hôpital Raymond-Poincaré, Garches, AP-HP and INSERM U1179, Université Versailles Saint-Quentin-en-Yvelines, Montigny-le-Bretonneux; SphinCS GmbH (K.E.M.), Institute of Clinical Science for LSD, Hochheim, Germany; Cincinnati Children's Hospital Medical Center and University of Cincinnati College of Medicine (L.D.M.P.), OH; Neuromuscular Diseases Centre (S.S.), Department of Clinical Neurosciences, University Hospital of Nice (CHU), France; Newcastle University John Walton Muscular Dystrophy Research Centre (V.S.), Newcastle Hospitals NHS Foundation Trust, United Kingdom; University of Texas Southwestern Medical Center (J.T.), Dallas; Department of Neurosciences (P.V.D.), KU Leuven (Catholic University of Leuven), VIB-Center for Brain & Disease Research, and Department of Neurology, University Hospitals Leuven, Belgium; Erasmus MC University Medical Center (A.T.v.d.P.), Pompe Center & Center for Lysosomal and Metabolic Diseases, Rotterdam, the Netherlands; Copenhagen Neuromuscular Center (J.V.), Rigshospitalet, University of Copenhagen, Denmark; Department of Neurology (P.Y.), Medical Park Bad Feilnbach, Germany; Sanofi (K.A.H., P.M.), Chilly-Mazarin, France; Sanofi (M.F., T.Z.), Cambridge, MA; Elevate Medical Affairs (J.M.G.), Horsham, United Kingdom; Sanofi (O.V.), Montpellier, France; and Friedrich-Baur-Institut (B.S.), Department of Neurology Klinikum München, Germany.; Ladha S; From the University of Kansas Medical Center (M.M.D., R.J.B.), Kansas City; University of Missouri (R.J.B.), Columbia; University of Florida (B.B.), Gainesville; LDRTC (O.G.-A.), Fairfax, VA; Duke University Medical Center (P.S.K., L.D.M.P.), Durham, NC; Barrow Neurological Institute (S.L.), Phoenix, AZ; Centre de Référence des Maladies Neuromusculaires Nord/Est/Ile de France Service de Neurologie (P.L.), Hôpital Raymond-Poincaré, Garches, AP-HP and INSERM U1179, Université Versailles Saint-Quentin-en-Yvelines, Montigny-le-Bretonneux; SphinCS GmbH (K.E.M.), Institute of Clinical Science for LSD, Hochheim, Germany; Cincinnati Children's Hospital Medical Center and University of Cincinnati College of Medicine (L.D.M.P.), OH; Neuromuscular Diseases Centre (S.S.), Department of Clinical Neurosciences, University Hospital of Nice (CHU), France; Newcastle University John Walton Muscular Dystrophy Research Centre (V.S.), Newcastle Hospitals NHS Foundation Trust, United Kingdom; University of Texas Southwestern Medical Center (J.T.), Dallas; Department of Neurosciences (P.V.D.), KU Leuven (Catholic University of Leuven), VIB-Center for Brain & Disease Research, and Department of Neurology, University Hospitals Leuven, Belgium; Erasmus MC University Medical Center (A.T.v.d.P.), Pompe Center & Center for Lysosomal and Metabolic Diseases, Rotterdam, the Netherlands; Copenhagen Neuromuscular Center (J.V.), Rigshospitalet, University of Copenhagen, Denmark; Department of Neurology (P.Y.), Medical Park Bad Feilnbach, Germany; Sanofi (K.A.H., P.M.), Chilly-Mazarin, France; Sanofi (M.F., T.Z.), Cambridge, MA; Elevate Medical Affairs (J.M.G.), Horsham, United Kingdom; Sanofi (O.V.), Montpellier, France; and Friedrich-Baur-Institut (B.S.), Department of Neurology Klinikum München, Germany.; Laforêt P; From the University of Kansas Medical Center (M.M.D., R.J.B.), Kansas City; University of Missouri (R.J.B.), Columbia; University of Florida (B.B.), Gainesville; LDRTC (O.G.-A.), Fairfax, VA; Duke University Medical Center (P.S.K., L.D.M.P.), Durham, NC; Barrow Neurological Institute (S.L.), Phoenix, AZ; Centre de Référence des Maladies Neuromusculaires Nord/Est/Ile de France Service de Neurologie (P.L.), Hôpital Raymond-Poincaré, Garches, AP-HP and INSERM U1179, Université Versailles Saint-Quentin-en-Yvelines, Montigny-le-Bretonneux; SphinCS GmbH (K.E.M.), Institute of Clinical Science for LSD, Hochheim, Germany; Cincinnati Children's Hospital Medical Center and University of Cincinnati College of Medicine (L.D.M.P.), OH; Neuromuscular Diseases Centre (S.S.), Department of Clinical Neurosciences, University Hospital of Nice (CHU), France; Newcastle University John Walton Muscular Dystrophy Research Centre (V.S.), Newcastle Hospitals NHS Foundation Trust, United Kingdom; University of Texas Southwestern Medical Center (J.T.), Dallas; Department of Neurosciences (P.V.D.), KU Leuven (Catholic University of Leuven), VIB-Center for Brain & Disease Research, and Department of Neurology, University Hospitals Leuven, Belgium; Erasmus MC University Medical Center (A.T.v.d.P.), Pompe Center & Center for Lysosomal and Metabolic Diseases, Rotterdam, the Netherlands; Copenhagen Neuromuscular Center (J.V.), Rigshospitalet, University of Copenhagen, Denmark; Department of Neurology (P.Y.), Medical Park Bad Feilnbach, Germany; Sanofi (K.A.H., P.M.), Chilly-Mazarin, France; Sanofi (M.F., T.Z.), Cambridge, MA; Elevate Medical Affairs (J.M.G.), Horsham, United Kingdom; Sanofi (O.V.), Montpellier, France; and Friedrich-Baur-Institut (B.S.), Department of Neurology Klinikum München, Germany.; Mengel KE; From the University of Kansas Medical Center (M.M.D., R.J.B.), Kansas City; University of Missouri (R.J.B.), Columbia; University of Florida (B.B.), Gainesville; LDRTC (O.G.-A.), Fairfax, VA; Duke University Medical Center (P.S.K., L.D.M.P.), Durham, NC; Barrow Neurological Institute (S.L.), Phoenix, AZ; Centre de Référence des Maladies Neuromusculaires Nord/Est/Ile de France Service de Neurologie (P.L.), Hôpital Raymond-Poincaré, Garches, AP-HP and INSERM U1179, Université Versailles Saint-Quentin-en-Yvelines, Montigny-le-Bretonneux; SphinCS GmbH (K.E.M.), Institute of Clinical Science for LSD, Hochheim, Germany; Cincinnati Children's Hospital Medical Center and University of Cincinnati College of Medicine (L.D.M.P.), OH; Neuromuscular Diseases Centre (S.S.), Department of Clinical Neurosciences, University Hospital of Nice (CHU), France; Newcastle University John Walton Muscular Dystrophy Research Centre (V.S.), Newcastle Hospitals NHS Foundation Trust, United Kingdom; University of Texas Southwestern Medical Center (J.T.), Dallas; Department of Neurosciences (P.V.D.), KU Leuven (Catholic University of Leuven), VIB-Center for Brain & Disease Research, and Department of Neurology, University Hospitals Leuven, Belgium; Erasmus MC University Medical Center (A.T.v.d.P.), Pompe Center & Center for Lysosomal and Metabolic Diseases, Rotterdam, the Netherlands; Copenhagen Neuromuscular Center (J.V.), Rigshospitalet, University of Copenhagen, Denmark; Department of Neurology (P.Y.), Medical Park Bad Feilnbach, Germany; Sanofi (K.A.H., P.M.), Chilly-Mazarin, France; Sanofi (M.F., T.Z.), Cambridge, MA; Elevate Medical Affairs (J.M.G.), Horsham, United Kingdom; Sanofi (O.V.), Montpellier, France; and Friedrich-Baur-Institut (B.S.), Department of Neurology Klinikum München, Germany.; Peña LDM; From the University of Kansas Medical Center (M.M.D., R.J.B.), Kansas City; University of Missouri (R.J.B.), Columbia; University of Florida (B.B.), Gainesville; LDRTC (O.G.-A.), Fairfax, VA; Duke University Medical Center (P.S.K., L.D.M.P.), Durham, NC; Barrow Neurological Institute (S.L.), Phoenix, AZ; Centre de Référence des Maladies Neuromusculaires Nord/Est/Ile de France Service de Neurologie (P.L.), Hôpital Raymond-Poincaré, Garches, AP-HP and INSERM U1179, Université Versailles Saint-Quentin-en-Yvelines, Montigny-le-Bretonneux; SphinCS GmbH (K.E.M.), Institute of Clinical Science for LSD, Hochheim, Germany; Cincinnati Children's Hospital Medical Center and University of Cincinnati College of Medicine (L.D.M.P.), OH; Neuromuscular Diseases Centre (S.S.), Department of Clinical Neurosciences, University Hospital of Nice (CHU), France; Newcastle University John Walton Muscular Dystrophy Research Centre (V.S.), Newcastle Hospitals NHS Foundation Trust, United Kingdom; University of Texas Southwestern Medical Center (J.T.), Dallas; Department of Neurosciences (P.V.D.), KU Leuven (Catholic University of Leuven), VIB-Center for Brain & Disease Research, and Department of Neurology, University Hospitals Leuven, Belgium; Erasmus MC University Medical Center (A.T.v.d.P.), Pompe Center & Center for Lysosomal and Metabolic Diseases, Rotterdam, the Netherlands; Copenhagen Neuromuscular Center (J.V.), Rigshospitalet, University of Copenhagen, Denmark; Department of Neurology (P.Y.), Medical Park Bad Feilnbach, Germany; Sanofi (K.A.H., P.M.), Chilly-Mazarin, France; Sanofi (M.F., T.Z.), Cambridge, MA; Elevate Medical Affairs (J.M.G.), Horsham, United Kingdom; Sanofi (O.V.), Montpellier, France; and Friedrich-Baur-Institut (B.S.), Department of Neurology Klinikum München, Germany.; Sacconi S; From the University of Kansas Medical Center (M.M.D., R.J.B.), Kansas City; University of Missouri (R.J.B.), Columbia; University of Florida (B.B.), Gainesville; LDRTC (O.G.-A.), Fairfax, VA; Duke University Medical Center (P.S.K., L.D.M.P.), Durham, NC; Barrow Neurological Institute (S.L.), Phoenix, AZ; Centre de Référence des Maladies Neuromusculaires Nord/Est/Ile de France Service de Neurologie (P.L.), Hôpital Raymond-Poincaré, Garches, AP-HP and INSERM U1179, Université Versailles Saint-Quentin-en-Yvelines, Montigny-le-Bretonneux; SphinCS GmbH (K.E.M.), Institute of Clinical Science for LSD, Hochheim, Germany; Cincinnati Children's Hospital Medical Center and University of Cincinnati College of Medicine (L.D.M.P.), OH; Neuromuscular Diseases Centre (S.S.), Department of Clinical Neurosciences, University Hospital of Nice (CHU), France; Newcastle University John Walton Muscular Dystrophy Research Centre (V.S.), Newcastle Hospitals NHS Foundation Trust, United Kingdom; University of Texas Southwestern Medical Center (J.T.), Dallas; Department of Neurosciences (P.V.D.), KU Leuven (Catholic University of Leuven), VIB-Center for Brain & Disease Research, and Department of Neurology, University Hospitals Leuven, Belgium; Erasmus MC University Medical Center (A.T.v.d.P.), Pompe Center & Center for Lysosomal and Metabolic Diseases, Rotterdam, the Netherlands; Copenhagen Neuromuscular Center (J.V.), Rigshospitalet, University of Copenhagen, Denmark; Department of Neurology (P.Y.), Medical Park Bad Feilnbach, Germany; Sanofi (K.A.H., P.M.), Chilly-Mazarin, France; Sanofi (M.F., T.Z.), Cambridge, MA; Elevate Medical Affairs (J.M.G.), Horsham, United Kingdom; Sanofi (O.V.), Montpellier, France; and Friedrich-Baur-Institut (B.S.), Department of Neurology Klinikum München, Germany.; Straub V; From the University of Kansas Medical Center (M.M.D., R.J.B.), Kansas City; University of Missouri (R.J.B.), Columbia; University of Florida (B.B.), Gainesville; LDRTC (O.G.-A.), Fairfax, VA; Duke University Medical Center (P.S.K., L.D.M.P.), Durham, NC; Barrow Neurological Institute (S.L.), Phoenix, AZ; Centre de Référence des Maladies Neuromusculaires Nord/Est/Ile de France Service de Neurologie (P.L.), Hôpital Raymond-Poincaré, Garches, AP-HP and INSERM U1179, Université Versailles Saint-Quentin-en-Yvelines, Montigny-le-Bretonneux; SphinCS GmbH (K.E.M.), Institute of Clinical Science for LSD, Hochheim, Germany; Cincinnati Children's Hospital Medical Center and University of Cincinnati College of Medicine (L.D.M.P.), OH; Neuromuscular Diseases Centre (S.S.), Department of Clinical Neurosciences, University Hospital of Nice (CHU), France; Newcastle University John Walton Muscular Dystrophy Research Centre (V.S.), Newcastle Hospitals NHS Foundation Trust, United Kingdom; University of Texas Southwestern Medical Center (J.T.), Dallas; Department of Neurosciences (P.V.D.), KU Leuven (Catholic University of Leuven), VIB-Center for Brain & Disease Research, and Department of Neurology, University Hospitals Leuven, Belgium; Erasmus MC University Medical Center (A.T.v.d.P.), Pompe Center & Center for Lysosomal and Metabolic Diseases, Rotterdam, the Netherlands; Copenhagen Neuromuscular Center (J.V.), Rigshospitalet, University of Copenhagen, Denmark; Department of Neurology (P.Y.), Medical Park Bad Feilnbach, Germany; Sanofi (K.A.H., P.M.), Chilly-Mazarin, France; Sanofi (M.F., T.Z.), Cambridge, MA; Elevate Medical Affairs (J.M.G.), Horsham, United Kingdom; Sanofi (O.V.), Montpellier, France; and Friedrich-Baur-Institut (B.S.), Department of Neurology Klinikum München, Germany.; Trivedi J; From the University of Kansas Medical Center (M.M.D., R.J.B.), Kansas City; University of Missouri (R.J.B.), Columbia; University of Florida (B.B.), Gainesville; LDRTC (O.G.-A.), Fairfax, VA; Duke University Medical Center (P.S.K., L.D.M.P.), Durham, NC; Barrow Neurological Institute (S.L.), Phoenix, AZ; Centre de Référence des Maladies Neuromusculaires Nord/Est/Ile de France Service de Neurologie (P.L.), Hôpital Raymond-Poincaré, Garches, AP-HP and INSERM U1179, Université Versailles Saint-Quentin-en-Yvelines, Montigny-le-Bretonneux; SphinCS GmbH (K.E.M.), Institute of Clinical Science for LSD, Hochheim, Germany; Cincinnati Children's Hospital Medical Center and University of Cincinnati College of Medicine (L.D.M.P.), OH; Neuromuscular Diseases Centre (S.S.), Department of Clinical Neurosciences, University Hospital of Nice (CHU), France; Newcastle University John Walton Muscular Dystrophy Research Centre (V.S.), Newcastle Hospitals NHS Foundation Trust, United Kingdom; University of Texas Southwestern Medical Center (J.T.), Dallas; Department of Neurosciences (P.V.D.), KU Leuven (Catholic University of Leuven), VIB-Center for Brain & Disease Research, and Department of Neurology, University Hospitals Leuven, Belgium; Erasmus MC University Medical Center (A.T.v.d.P.), Pompe Center & Center for Lysosomal and Metabolic Diseases, Rotterdam, the Netherlands; Copenhagen Neuromuscular Center (J.V.), Rigshospitalet, University of Copenhagen, Denmark; Department of Neurology (P.Y.), Medical Park Bad Feilnbach, Germany; Sanofi (K.A.H., P.M.), Chilly-Mazarin, France; Sanofi (M.F., T.Z.), Cambridge, MA; Elevate Medical Affairs (J.M.G.), Horsham, United Kingdom; Sanofi (O.V.), Montpellier, France; and Friedrich-Baur-Institut (B.S.), Department of Neurology Klinikum München, Germany.; Van Damme P; From the University of Kansas Medical Center (M.M.D., R.J.B.), Kansas City; University of Missouri (R.J.B.), Columbia; University of Florida (B.B.), Gainesville; LDRTC (O.G.-A.), Fairfax, VA; Duke University Medical Center (P.S.K., L.D.M.P.), Durham, NC; Barrow Neurological Institute (S.L.), Phoenix, AZ; Centre de Référence des Maladies Neuromusculaires Nord/Est/Ile de France Service de Neurologie (P.L.), Hôpital Raymond-Poincaré, Garches, AP-HP and INSERM U1179, Université Versailles Saint-Quentin-en-Yvelines, Montigny-le-Bretonneux; SphinCS GmbH (K.E.M.), Institute of Clinical Science for LSD, Hochheim, Germany; Cincinnati Children's Hospital Medical Center and University of Cincinnati College of Medicine (L.D.M.P.), OH; Neuromuscular Diseases Centre (S.S.), Department of Clinical Neurosciences, University Hospital of Nice (CHU), France; Newcastle University John Walton Muscular Dystrophy Research Centre (V.S.), Newcastle Hospitals NHS Foundation Trust, United Kingdom; University of Texas Southwestern Medical Center (J.T.), Dallas; Department of Neurosciences (P.V.D.), KU Leuven (Catholic University of Leuven), VIB-Center for Brain & Disease Research, and Department of Neurology, University Hospitals Leuven, Belgium; Erasmus MC University Medical Center (A.T.v.d.P.), Pompe Center & Center for Lysosomal and Metabolic Diseases, Rotterdam, the Netherlands; Copenhagen Neuromuscular Center (J.V.), Rigshospitalet, University of Copenhagen, Denmark; Department of Neurology (P.Y.), Medical Park Bad Feilnbach, Germany; Sanofi (K.A.H., P.M.), Chilly-Mazarin, France; Sanofi (M.F., T.Z.), Cambridge, MA; Elevate Medical Affairs (J.M.G.), Horsham, United Kingdom; Sanofi (O.V.), Montpellier, France; and Friedrich-Baur-Institut (B.S.), Department of Neurology Klinikum München, Germany.; van der Ploeg AT; From the University of Kansas Medical Center (M.M.D., R.J.B.), Kansas City; University of Missouri (R.J.B.), Columbia; University of Florida (B.B.), Gainesville; LDRTC (O.G.-A.), Fairfax, VA; Duke University Medical Center (P.S.K., L.D.M.P.), Durham, NC; Barrow Neurological Institute (S.L.), Phoenix, AZ; Centre de Référence des Maladies Neuromusculaires Nord/Est/Ile de France Service de Neurologie (P.L.), Hôpital Raymond-Poincaré, Garches, AP-HP and INSERM U1179, Université Versailles Saint-Quentin-en-Yvelines, Montigny-le-Bretonneux; SphinCS GmbH (K.E.M.), Institute of Clinical Science for LSD, Hochheim, Germany; Cincinnati Children's Hospital Medical Center and University of Cincinnati College of Medicine (L.D.M.P.), OH; Neuromuscular Diseases Centre (S.S.), Department of Clinical Neurosciences, University Hospital of Nice (CHU), France; Newcastle University John Walton Muscular Dystrophy Research Centre (V.S.), Newcastle Hospitals NHS Foundation Trust, United Kingdom; University of Texas Southwestern Medical Center (J.T.), Dallas; Department of Neurosciences (P.V.D.), KU Leuven (Catholic University of Leuven), VIB-Center for Brain & Disease Research, and Department of Neurology, University Hospitals Leuven, Belgium; Erasmus MC University Medical Center (A.T.v.d.P.), Pompe Center & Center for Lysosomal and Metabolic Diseases, Rotterdam, the Netherlands; Copenhagen Neuromuscular Center (J.V.), Rigshospitalet, University of Copenhagen, Denmark; Department of Neurology (P.Y.), Medical Park Bad Feilnbach, Germany; Sanofi (K.A.H., P.M.), Chilly-Mazarin, France; Sanofi (M.F., T.Z.), Cambridge, MA; Elevate Medical Affairs (J.M.G.), Horsham, United Kingdom; Sanofi (O.V.), Montpellier, France; and Friedrich-Baur-Institut (B.S.), Department of Neurology Klinikum München, Germany.; Vissing J; From the University of Kansas Medical Center (M.M.D., R.J.B.), Kansas City; University of Missouri (R.J.B.), Columbia; University of Florida (B.B.), Gainesville; LDRTC (O.G.-A.), Fairfax, VA; Duke University Medical Center (P.S.K., L.D.M.P.), Durham, NC; Barrow Neurological Institute (S.L.), Phoenix, AZ; Centre de Référence des Maladies Neuromusculaires Nord/Est/Ile de France Service de Neurologie (P.L.), Hôpital Raymond-Poincaré, Garches, AP-HP and INSERM U1179, Université Versailles Saint-Quentin-en-Yvelines, Montigny-le-Bretonneux; SphinCS GmbH (K.E.M.), Institute of Clinical Science for LSD, Hochheim, Germany; Cincinnati Children's Hospital Medical Center and University of Cincinnati College of Medicine (L.D.M.P.), OH; Neuromuscular Diseases Centre (S.S.), Department of Clinical Neurosciences, University Hospital of Nice (CHU), France; Newcastle University John Walton Muscular Dystrophy Research Centre (V.S.), Newcastle Hospitals NHS Foundation Trust, United Kingdom; University of Texas Southwestern Medical Center (J.T.), Dallas; Department of Neurosciences (P.V.D.), KU Leuven (Catholic University of Leuven), VIB-Center for Brain & Disease Research, and Department of Neurology, University Hospitals Leuven, Belgium; Erasmus MC University Medical Center (A.T.v.d.P.), Pompe Center & Center for Lysosomal and Metabolic Diseases, Rotterdam, the Netherlands; Copenhagen Neuromuscular Center (J.V.), Rigshospitalet, University of Copenhagen, Denmark; Department of Neurology (P.Y.), Medical Park Bad Feilnbach, Germany; Sanofi (K.A.H., P.M.), Chilly-Mazarin, France; Sanofi (M.F., T.Z.), Cambridge, MA; Elevate Medical Affairs (J.M.G.), Horsham, United Kingdom; Sanofi (O.V.), Montpellier, France; and Friedrich-Baur-Institut (B.S.), Department of Neurology Klinikum München, Germany.; Young P; From the University of Kansas Medical Center (M.M.D., R.J.B.), Kansas City; University of Missouri (R.J.B.), Columbia; University of Florida (B.B.), Gainesville; LDRTC (O.G.-A.), Fairfax, VA; Duke University Medical Center (P.S.K., L.D.M.P.), Durham, NC; Barrow Neurological Institute (S.L.), Phoenix, AZ; Centre de Référence des Maladies Neuromusculaires Nord/Est/Ile de France Service de Neurologie (P.L.), Hôpital Raymond-Poincaré, Garches, AP-HP and INSERM U1179, Université Versailles Saint-Quentin-en-Yvelines, Montigny-le-Bretonneux; SphinCS GmbH (K.E.M.), Institute of Clinical Science for LSD, Hochheim, Germany; Cincinnati Children's Hospital Medical Center and University of Cincinnati College of Medicine (L.D.M.P.), OH; Neuromuscular Diseases Centre (S.S.), Department of Clinical Neurosciences, University Hospital of Nice (CHU), France; Newcastle University John Walton Muscular Dystrophy Research Centre (V.S.), Newcastle Hospitals NHS Foundation Trust, United Kingdom; University of Texas Southwestern Medical Center (J.T.), Dallas; Department of Neurosciences (P.V.D.), KU Leuven (Catholic University of Leuven), VIB-Center for Brain & Disease Research, and Department of Neurology, University Hospitals Leuven, Belgium; Erasmus MC University Medical Center (A.T.v.d.P.), Pompe Center & Center for Lysosomal and Metabolic Diseases, Rotterdam, the Netherlands; Copenhagen Neuromuscular Center (J.V.), Rigshospitalet, University of Copenhagen, Denmark; Department of Neurology (P.Y.), Medical Park Bad Feilnbach, Germany; Sanofi (K.A.H., P.M.), Chilly-Mazarin, France; Sanofi (M.F., T.Z.), Cambridge, MA; Elevate Medical Affairs (J.M.G.), Horsham, United Kingdom; Sanofi (O.V.), Montpellier, France; and Friedrich-Baur-Institut (B.S.), Department of Neurology Klinikum München, Germany.; Haack KA; From the University of Kansas Medical Center (M.M.D., R.J.B.), Kansas City; University of Missouri (R.J.B.), Columbia; University of Florida (B.B.), Gainesville; LDRTC (O.G.-A.), Fairfax, VA; Duke University Medical Center (P.S.K., L.D.M.P.), Durham, NC; Barrow Neurological Institute (S.L.), Phoenix, AZ; Centre de Référence des Maladies Neuromusculaires Nord/Est/Ile de France Service de Neurologie (P.L.), Hôpital Raymond-Poincaré, Garches, AP-HP and INSERM U1179, Université Versailles Saint-Quentin-en-Yvelines, Montigny-le-Bretonneux; SphinCS GmbH (K.E.M.), Institute of Clinical Science for LSD, Hochheim, Germany; Cincinnati Children's Hospital Medical Center and University of Cincinnati College of Medicine (L.D.M.P.), OH; Neuromuscular Diseases Centre (S.S.), Department of Clinical Neurosciences, University Hospital of Nice (CHU), France; Newcastle University John Walton Muscular Dystrophy Research Centre (V.S.), Newcastle Hospitals NHS Foundation Trust, United Kingdom; University of Texas Southwestern Medical Center (J.T.), Dallas; Department of Neurosciences (P.V.D.), KU Leuven (Catholic University of Leuven), VIB-Center for Brain & Disease Research, and Department of Neurology, University Hospitals Leuven, Belgium; Erasmus MC University Medical Center (A.T.v.d.P.), Pompe Center & Center for Lysosomal and Metabolic Diseases, Rotterdam, the Netherlands; Copenhagen Neuromuscular Center (J.V.), Rigshospitalet, University of Copenhagen, Denmark; Department of Neurology (P.Y.), Medical Park Bad Feilnbach, Germany; Sanofi (K.A.H., P.M.), Chilly-Mazarin, France; Sanofi (M.F., T.Z.), Cambridge, MA; Elevate Medical Affairs (J.M.G.), Horsham, United Kingdom; Sanofi (O.V.), Montpellier, France; and Friedrich-Baur-Institut (B.S.), Department of Neurology Klinikum München, Germany.; Foster M; From the University of Kansas Medical Center (M.M.D., R.J.B.), Kansas City; University of Missouri (R.J.B.), Columbia; University of Florida (B.B.), Gainesville; LDRTC (O.G.-A.), Fairfax, VA; Duke University Medical Center (P.S.K., L.D.M.P.), Durham, NC; Barrow Neurological Institute (S.L.), Phoenix, AZ; Centre de Référence des Maladies Neuromusculaires Nord/Est/Ile de France Service de Neurologie (P.L.), Hôpital Raymond-Poincaré, Garches, AP-HP and INSERM U1179, Université Versailles Saint-Quentin-en-Yvelines, Montigny-le-Bretonneux; SphinCS GmbH (K.E.M.), Institute of Clinical Science for LSD, Hochheim, Germany; Cincinnati Children's Hospital Medical Center and University of Cincinnati College of Medicine (L.D.M.P.), OH; Neuromuscular Diseases Centre (S.S.), Department of Clinical Neurosciences, University Hospital of Nice (CHU), France; Newcastle University John Walton Muscular Dystrophy Research Centre (V.S.), Newcastle Hospitals NHS Foundation Trust, United Kingdom; University of Texas Southwestern Medical Center (J.T.), Dallas; Department of Neurosciences (P.V.D.), KU Leuven (Catholic University of Leuven), VIB-Center for Brain & Disease Research, and Department of Neurology, University Hospitals Leuven, Belgium; Erasmus MC University Medical Center (A.T.v.d.P.), Pompe Center & Center for Lysosomal and Metabolic Diseases, Rotterdam, the Netherlands; Copenhagen Neuromuscular Center (J.V.), Rigshospitalet, University of Copenhagen, Denmark; Department of Neurology (P.Y.), Medical Park Bad Feilnbach, Germany; Sanofi (K.A.H., P.M.), Chilly-Mazarin, France; Sanofi (M.F., T.Z.), Cambridge, MA; Elevate Medical Affairs (J.M.G.), Horsham, United Kingdom; Sanofi (O.V.), Montpellier, France; and Friedrich-Baur-Institut (B.S.), Department of Neurology Klinikum München, Germany.; Gilbert JM; From the University of Kansas Medical Center (M.M.D., R.J.B.), Kansas City; University of Missouri (R.J.B.), Columbia; University of Florida (B.B.), Gainesville; LDRTC (O.G.-A.), Fairfax, VA; Duke University Medical Center (P.S.K., L.D.M.P.), Durham, NC; Barrow Neurological Institute (S.L.), Phoenix, AZ; Centre de Référence des Maladies Neuromusculaires Nord/Est/Ile de France Service de Neurologie (P.L.), Hôpital Raymond-Poincaré, Garches, AP-HP and INSERM U1179, Université Versailles Saint-Quentin-en-Yvelines, Montigny-le-Bretonneux; SphinCS GmbH (K.E.M.), Institute of Clinical Science for LSD, Hochheim, Germany; Cincinnati Children's Hospital Medical Center and University of Cincinnati College of Medicine (L.D.M.P.), OH; Neuromuscular Diseases Centre (S.S.), Department of Clinical Neurosciences, University Hospital of Nice (CHU), France; Newcastle University John Walton Muscular Dystrophy Research Centre (V.S.), Newcastle Hospitals NHS Foundation Trust, United Kingdom; University of Texas Southwestern Medical Center (J.T.), Dallas; Department of Neurosciences (P.V.D.), KU Leuven (Catholic University of Leuven), VIB-Center for Brain & Disease Research, and Department of Neurology, University Hospitals Leuven, Belgium; Erasmus MC University Medical Center (A.T.v.d.P.), Pompe Center & Center for Lysosomal and Metabolic Diseases, Rotterdam, the Netherlands; Copenhagen Neuromuscular Center (J.V.), Rigshospitalet, University of Copenhagen, Denmark; Department of Neurology (P.Y.), Medical Park Bad Feilnbach, Germany; Sanofi (K.A.H., P.M.), Chilly-Mazarin, France; Sanofi (M.F., T.Z.), Cambridge, MA; Elevate Medical Affairs (J.M.G.), Horsham, United Kingdom; Sanofi (O.V.), Montpellier, France; and Friedrich-Baur-Institut (B.S.), Department of Neurology Klinikum München, Germany.; Miossec P; From the University of Kansas Medical Center (M.M.D., R.J.B.), Kansas City; University of Missouri (R.J.B.), Columbia; University of Florida (B.B.), Gainesville; LDRTC (O.G.-A.), Fairfax, VA; Duke University Medical Center (P.S.K., L.D.M.P.), Durham, NC; Barrow Neurological Institute (S.L.), Phoenix, AZ; Centre de Référence des Maladies Neuromusculaires Nord/Est/Ile de France Service de Neurologie (P.L.), Hôpital Raymond-Poincaré, Garches, AP-HP and INSERM U1179, Université Versailles Saint-Quentin-en-Yvelines, Montigny-le-Bretonneux; SphinCS GmbH (K.E.M.), Institute of Clinical Science for LSD, Hochheim, Germany; Cincinnati Children's Hospital Medical Center and University of Cincinnati College of Medicine (L.D.M.P.), OH; Neuromuscular Diseases Centre (S.S.), Department of Clinical Neurosciences, University Hospital of Nice (CHU), France; Newcastle University John Walton Muscular Dystrophy Research Centre (V.S.), Newcastle Hospitals NHS Foundation Trust, United Kingdom; University of Texas Southwestern Medical Center (J.T.), Dallas; Department of Neurosciences (P.V.D.), KU Leuven (Catholic University of Leuven), VIB-Center for Brain & Disease Research, and Department of Neurology, University Hospitals Leuven, Belgium; Erasmus MC University Medical Center (A.T.v.d.P.), Pompe Center & Center for Lysosomal and Metabolic Diseases, Rotterdam, the Netherlands; Copenhagen Neuromuscular Center (J.V.), Rigshospitalet, University of Copenhagen, Denmark; Department of Neurology (P.Y.), Medical Park Bad Feilnbach, Germany; Sanofi (K.A.H., P.M.), Chilly-Mazarin, France; Sanofi (M.F., T.Z.), Cambridge, MA; Elevate Medical Affairs (J.M.G.), Horsham, United Kingdom; Sanofi (O.V.), Montpellier, France; and Friedrich-Baur-Institut (B.S.), Department of Neurology Klinikum München, Germany.; Vitse O; From the University of Kansas Medical Center (M.M.D., R.J.B.), Kansas City; University of Missouri (R.J.B.), Columbia; University of Florida (B.B.), Gainesville; LDRTC (O.G.-A.), Fairfax, VA; Duke University Medical Center (P.S.K., L.D.M.P.), Durham, NC; Barrow Neurological Institute (S.L.), Phoenix, AZ; Centre de Référence des Maladies Neuromusculaires Nord/Est/Ile de France Service de Neurologie (P.L.), Hôpital Raymond-Poincaré, Garches, AP-HP and INSERM U1179, Université Versailles Saint-Quentin-en-Yvelines, Montigny-le-Bretonneux; SphinCS GmbH (K.E.M.), Institute of Clinical Science for LSD, Hochheim, Germany; Cincinnati Children's Hospital Medical Center and University of Cincinnati College of Medicine (L.D.M.P.), OH; Neuromuscular Diseases Centre (S.S.), Department of Clinical Neurosciences, University Hospital of Nice (CHU), France; Newcastle University John Walton Muscular Dystrophy Research Centre (V.S.), Newcastle Hospitals NHS Foundation Trust, United Kingdom; University of Texas Southwestern Medical Center (J.T.), Dallas; Department of Neurosciences (P.V.D.), KU Leuven (Catholic University of Leuven), VIB-Center for Brain & Disease Research, and Department of Neurology, University Hospitals Leuven, Belgium; Erasmus MC University Medical Center (A.T.v.d.P.), Pompe Center & Center for Lysosomal and Metabolic Diseases, Rotterdam, the Netherlands; Copenhagen Neuromuscular Center (J.V.), Rigshospitalet, University of Copenhagen, Denmark; Department of Neurology (P.Y.), Medical Park Bad Feilnbach, Germany; Sanofi (K.A.H., P.M.), Chilly-Mazarin, France; Sanofi (M.F., T.Z.), Cambridge, MA; Elevate Medical Affairs (J.M.G.), Horsham, United Kingdom; Sanofi (O.V.), Montpellier, France; and Friedrich-Baur-Institut (B.S.), Department of Neurology Klinikum München, Germany.; Zhou T; From the University of Kansas Medical Center (M.M.D., R.J.B.), Kansas City; University of Missouri (R.J.B.), Columbia; University of Florida (B.B.), Gainesville; LDRTC (O.G.-A.), Fairfax, VA; Duke University Medical Center (P.S.K., L.D.M.P.), Durham, NC; Barrow Neurological Institute (S.L.), Phoenix, AZ; Centre de Référence des Maladies Neuromusculaires Nord/Est/Ile de France Service de Neurologie (P.L.), Hôpital Raymond-Poincaré, Garches, AP-HP and INSERM U1179, Université Versailles Saint-Quentin-en-Yvelines, Montigny-le-Bretonneux; SphinCS GmbH (K.E.M.), Institute of Clinical Science for LSD, Hochheim, Germany; Cincinnati Children's Hospital Medical Center and University of Cincinnati College of Medicine (L.D.M.P.), OH; Neuromuscular Diseases Centre (S.S.), Department of Clinical Neurosciences, University Hospital of Nice (CHU), France; Newcastle University John Walton Muscular Dystrophy Research Centre (V.S.), Newcastle Hospitals NHS Foundation Trust, United Kingdom; University of Texas Southwestern Medical Center (J.T.), Dallas; Department of Neurosciences (P.V.D.), KU Leuven (Catholic University of Leuven), VIB-Center for Brain & Disease Research, and Department of Neurology, University Hospitals Leuven, Belgium; Erasmus MC University Medical Center (A.T.v.d.P.), Pompe Center & Center for Lysosomal and Metabolic Diseases, Rotterdam, the Netherlands; Copenhagen Neuromuscular Center (J.V.), Rigshospitalet, University of Copenhagen, Denmark; Department of Neurology (P.Y.), Medical Park Bad Feilnbach, Germany; Sanofi (K.A.H., P.M.), Chilly-Mazarin, France; Sanofi (M.F., T.Z.), Cambridge, MA; Elevate Medical Affairs (J.M.G.), Horsham, United Kingdom; Sanofi (O.V.), Montpellier, France; and Friedrich-Baur-Institut (B.S.), Department of Neurology Klinikum München, Germany.; Schoser B; From the University of Kansas Medical Center (M.M.D., R.J.B.), Kansas City; University of Missouri (R.J.B.), Columbia; University of Florida (B.B.), Gainesville; LDRTC (O.G.-A.), Fairfax, VA; Duke University Medical Center (P.S.K., L.D.M.P.), Durham, NC; Barrow Neurological Institute (S.L.), Phoenix, AZ; Centre de Référence des Maladies Neuromusculaires Nord/Est/Ile de France Service de Neurologie (P.L.), Hôpital Raymond-Poincaré, Garches, AP-HP and INSERM U1179, Université Versailles Saint-Quentin-en-Yvelines, Montigny-le-Bretonneux; SphinCS GmbH (K.E.M.), Institute of Clinical Science for LSD, Hochheim, Germany; Cincinnati Children's Hospital Medical Center and University of Cincinnati College of Medicine (L.D.M.P.), OH; Neuromuscular Diseases Centre (S.S.), Department of Clinical Neurosciences, University Hospital of Nice (CHU), France; Newcastle University John Walton Muscular Dystrophy Research Centre (V.S.), Newcastle Hospitals NHS Foundation Trust, United Kingdom; University of Texas Southwestern Medical Center (J.T.), Dallas; Department of Neurosciences (P.V.D.), KU Leuven (Catholic University of Leuven), VIB-Center for Brain & Disease Research, and Department of Neurology, University Hospitals Leuven, Belgium; Erasmus MC University Medical Center (A.T.v.d.P.), Pompe Center & Center for Lysosomal and Metabolic Diseases, Rotterdam, the Netherlands; Copenhagen Neuromuscular Center (J.V.), Rigshospitalet, University of Copenhagen, Denmark; Department of Neurology (P.Y.), Medical Park Bad Feilnbach, Germany; Sanofi (K.A.H., P.M.), Chilly-Mazarin, France; Sanofi (M.F., T.Z.), Cambridge, MA; Elevate Medical Affairs (J.M.G.), Horsham, United Kingdom; Sanofi (O.V.), Montpellier, France; and Friedrich-Baur-Institut (B.S.), Department of Neurology Klinikum München, Germany.

Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0401060 Publication Model: Electronic Cited Medium: Internet ISSN: 1526-632X (Electronic) Linking ISSN: 00283878 NLM ISO Abbreviation: Neurology Subsets: MEDLINE