부산대학교 도서관

Abela, Lucia; Gianfrancesco, Lorita; Tagliatti, Erica; Rossignoli, Giada; Barwick, Katy; Zourray, Clara; Reid, Kimberley M; Budinger, Dimitri; Ng, Joanne; Counsell, John; Simpson, Arlo; Pearson, Toni S; Edvardson, Simon; Elpeleg, Orly; Brodsky, Frances M; Lignani, Gabriele; Barral, Serena; Kurian, Manju A

Brain: A Journal of Neurology. Jun2024, Vol. 147 Issue 6, p2023-2037. 15p.

Bondarenko MS; Neurometabolic Unit and Synaptic Metabolism Lab, Neurology Department, Institut Pediàtric de Recerca, Hospital Sant Joan de Déu, Barcelona, Spain.; Neuropediatric Unit, Pediatric Department, Hospital Universitari Germans Trias I Pujol, Badalona, Spain.; Kuseyri Hübschmann O; Heidelberg University, Medical Faculty Heidelberg, Center for Paediatric and Adolescent Medicine Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg, Germany.; Kulhánek J; Department of Pediatrics and Inherited Metabolic Disorders, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Pons R; First Department of Paediatrics, Agia Sofia Hospital, National and Kapodistrian University of Athens, Athens, Greece.; Pearson TS; Division of Neurology, Nationwide Children's Hospital, The Ohio State University College of Medicine, Columbus, Ohio, USA.; Jeltsch K; Heidelberg University, Medical Faculty Heidelberg, Center for Paediatric and Adolescent Medicine Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg, Germany.; Badnjarevic I; Lil' Brave One (Hrabrisa)-Patient Organization for Rare Neurotransmitter Diseases, Novi Sad, Serbia.; Wassenberg T; Department of Pediatrics, Pediatric Neurology and Metabolic Unit, Research Group Vitality, Universitair Ziekenhuis Brussel, Brussels, Belgium.; Horvath G; Division of Biochemical Genetics, Vancouver General Hospital & BC Children's Hospital, Vancouver, British Columbia, Canada.; Stevanovic G; Clinic for Neurology and Psychiatry for Children and Youth, Belgrade, Serbia.; Kurian MA; Developmental Neurosciences, Zayed Centre for Research, UCL GOS-ICH; Department of Neurology, Great Ormond Street Hospital, London, UK.; Cortès-Saladelafont E; Pediatric Department, Son Llàtzer University Hospital, Palma (Mallorca), Spain.; Roubertie A; Neuropediatric Service, CHU Montpellier, Montpellier, France.; Leuzzi V; Department of Human Neuroscience, Child Neurology and Psychiatry, Sapienza University, Rome, Italy.; Bertoldi M; Department of Neuroscience, Biomedicine and Movement Sciences, Verona University, Verona, Italy.; Mastrangelo M; Child Neurology and Psychiatry Unit, Department of Neuroscience/Mental Health, Policlinico Umberto I, Rome, Italy.; Assmann B; Heidelberg University, Medical Faculty Heidelberg, Center for Paediatric and Adolescent Medicine Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg, Germany.; Garcia-Cazorla A; Neurometabolic Unit and Synaptic Metabolism Lab, Neurology Department, Institut Pediàtric de Recerca, Hospital Sant Joan de Déu, Barcelona, Spain.; Opladen T; Heidelberg University, Medical Faculty Heidelberg, Center for Paediatric and Adolescent Medicine Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg, Germany.

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

Pons R; First Department of Pediatrics, Agia Sofia Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.; Pearson TS; Division of Neurology, Nationwide Children's Hospital, The Ohio State University College of Medicine, Columbus, Ohio, USA.; Perez-Dueñas B; Pediatric Neurology Research Group, Vall d'Hebron Research Institute, Autonomous University of Barcelona, CIBERER, Spanish National Network for Research on Rare Diseases, Barcelona, Spain.; Garcia-Cazorla A; Neurometabolic Unit, Neurology Department, Institut de Recerca, MetabERN and CIBERER, Hospital Sant Joan de Déu, Barcelona, Spain.; Kurian MA; Molecular Neurosciences, Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.; Department of Neurology, Great Ormond Street Hospital, London, United Kingdom.; Dalivigka Z; Pediatric Rehabilitation Department, Pan & Aglaias Kyriakou Children's Hospital, Kallithea, Greece.; Zouvelou V; First Department of Pediatrics, Agia Sofia Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.; Outsika C; First Department of Pediatrics, Agia Sofia Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.; Kokkinou E; First Department of Pediatrics, Agia Sofia Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.; Sigatullina-Bondarenko M; Neurometabolic Unit, Neurology Department, Institut de Recerca, MetabERN and CIBERER, Hospital Sant Joan de Déu, Barcelona, Spain.; Darling A; Neurometabolic Unit, Neurology Department, Institut de Recerca, MetabERN and CIBERER, Hospital Sant Joan de Déu, Barcelona, Spain.; Movement Disorders Unit, Neurology Department, Hospital Sant Joan de Déu, Barcelona, Spain.; O'Callaghan MDM; Neurometabolic Unit, Neurology Department, Institut de Recerca, MetabERN and CIBERER, Hospital Sant Joan de Déu, Barcelona, Spain.; Genetics and Molecular Medicine Service, Hospital Sant Joan de Déu, Barcelona, Spain.; Spaull R; Molecular Neurosciences, Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.; Steel DBD; Molecular Neurosciences, Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.; Salamou E; First Department of Pediatrics, Agia Sofia Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.; Forjaz MJ; Red de Investigación en Cronicidad, Atención Primaria y Promoción de la Salud, Madrid, Spain.; Centro Nacional de Epidemiología, Instituto de Salud Carlos III, Madrid, Spain.; Rodriguez-Blazquez C; Centro Nacional de Epidemiología y Centro de Investigaciones Biomédicas en Red de Enfermedades Neurodegenerativas, Instituto de Salud Carlos III, Madrid, Spain.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8610688 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8257 (Electronic) Linking ISSN: 08853185 NLM ISO Abbreviation: Mov Disord Subsets: MEDLINE

Zheng, Wen-Qiang; Pedersen, Signe Vandal; Thompson, Kyle; Bellacchio, Emanuele; French, Courtney E; Munro, Benjamin; Pearson, Toni S; Vogt, Julie; Diodato, Daria; Diemer, Tue; Ernst, Anja; Horvath, Rita; Chitre, Manali; Ek, Jakob; Wibrand, Flemming; Grange, Dorothy K; Raymond, Lucy; Zhou, Xiao-Long; Taylor, Robert W; Ostergaard, Elsebet

Human Molecular Genetics; 2/15/2022, Vol. 31 Issue 4, p523-534, 12p

Aravamuthan, Bhooma R; Ueda, Keisuke; Miao, Hanyang; Gilbert, Laura; Smith, Sarah E; Pearson, Toni S

Developmental Medicine & Child Neurology. Jun2021, Vol. 63 Issue 6, p748-754. 7p.

Roubertie A; CHU Montpellier, Département de Neuropédiatrie, INM, Univ Montpellier, INSERM U 1298, Montpellier, France.; Opladen T; Division of Child Neurology and Metabolic Medicine, University Children's Hospital Heidelberg, Germany.; Brennenstuhl H; Division of Child Neurology and Metabolic Medicine, University Children's Hospital Heidelberg, Germany.; Institute Human Genetics, University Children's Hospital Heidelberg, Germany.; Kuseyri Hübschmann O; Division of Child Neurology and Metabolic Medicine, University Children's Hospital Heidelberg, Germany.; Flint L; AADC Research Trust, Caterham, UK.; Willemsen MA; Department of Pediatric Neurology, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.; Leuzzi V; Department of Human Neuroscience-Unit of Child Neurology and Psychiatry, University of Rome La Sapienza.; Cazorla AG; Neurometabolism Unit, Department of Neurology, CIBERER and MetabERN, Hospital Sant Joan de Déu, Barcelona, Spain.; Kurian MA; Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, Great Ormond Street Institute of Child Health, University College London, London, UK.; Department of Neurology, Great Ormond Street Hospital for Children, London, UK.; François-Heude MC; CHU Montpellier, Département de Neuropédiatrie, INM, Univ Montpellier, INSERM U 1298, Montpellier, France.; Hwu P; Department of Pediatrics and Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.; Zeev BB; Pediatric Neurology Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.; Kiening K; Division of Stereotactic Neurosurgery, University Hospital Heidelberg, Germany.; Roujeau T; CHU Montpellier, Département de Neurochirurgie, Montpellier, France.; Pons R; First Department of Pediatrics, National and Kapodistrian University of Athens, Aghia Sofia Hospital, Athens, Greece.; Pearson TS; Division of Neurology, Nationwide Children's Hospital, Columbus, Ohio, USA.

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

Keller, Mareike; Brennenstuhl, Heiko; Kuseyri Hübschmann, Oya; Manti, Filippo; Julia Palacios, Natalia Alexandra; Friedman, Jennifer; Yıldız, Yılmaz; Koht, Jeanette Aimee; Wong, Suet-Na; Zafeiriou, Dimitrios I; López-Laso, Eduardo; Pons, Roser; Kulhánek, Jan; Jeltsch, Kathrin; Serrano-Lomelin, Jesus; Garbade, Sven F; Opladen, Thomas; Goez, Helly; Burlina, Alberto; Cortès-Saladelafont, Elisenda; Fernández Ramos, Joaquín Alejandro; García-Cazorla, Angeles; Hoffmann, Georg F; Kiat Hong, Stacey Tay; Honzík, Tomáš; Kavecan, Ivana; Kurian, Manju A; Leuzzi, Vincenzo; Lücke, Thomas; Manzoni, Francesca; Mastrangelo, Mario; Mercimek-Andrews, Saadet; Mir, Pablo; Oppebøen, Mari; Pearson, Toni S; Sivri, H Serap; Steel, Dora; Stevanović, Galina; Fung, Cheuk-Wing

Digital.CSIC. Repositorio Institucional del CSIC
instname
Journal of Inherited Metabolic Disease
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
Institut de Recerca Germans Trias i Pujol (IGTP)
Consejo Superior de Investigaciones Científicas (CSIC)

Ebrahimi-Fakhari, Darius; Teinert, Julian; Behne, Robert; Wimmer, Miriam; D'Amore, Angelica; Eberhardt, Kathrin; Brechmann, Barbara; Ziegler, Marvin; Jensen, Dana M; Nagabhyrava, Premsai; Geisel, Gregory; Carmody, Erin; Shamshad, Uzma; Dies, Kira A.; Yuskaitis, Christopher J; Salussolia, Catherine L; Ebrahimi-Fakhari, Daniel; Pearson, Toni S; Saffari, Afshin; Ziegler, Andreas

Brain: A Journal of Neurology. Oct2020, Vol. 143 Issue 10, p2929-2944. 16p.

Aravamuthan BR; Division of Pediatric Neurology, Department of Neurology, Washington University School of Medicine, St Louis, MO, USA.; Pearson TS; Division of Pediatric Neurology, Department of Neurology, Washington University School of Medicine, St Louis, MO, USA.; Ueda K; Division of Pediatric Neurology, Department of Neurology, Washington University School of Medicine, St Louis, MO, USA.; Miao H; Division of Pediatric Neurology, Department of Neurology, Washington University School of Medicine, St Louis, MO, USA.; Zerafati-Jahromi G; Division of Pediatric Neurology, Department of Neurology, Washington University School of Medicine, St Louis, MO, USA.; Gilbert L; Division of Pediatric Neurology, Department of Neurology, Washington University School of Medicine, St Louis, MO, USA.; Comella C; Department of Neurological Sciences, Rush University, Chicago, IL, USA.; Perlmutter JS; Departments of Neurology, Radiology, Neuroscience, Physical Therapy, and Occupational Therapy, Washington University School of Medicine, St Louis, MO, USA.

Publisher: Blackwell Country of Publication: England NLM ID: 0006761 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1469-8749 (Electronic) Linking ISSN: 00121622 NLM ISO Abbreviation: Dev Med Child Neurol Subsets: MEDLINE

Pearson, Toni S; Gilbert, Laura; Opladen, Thomas; Garcia-Cazorla, Angeles; Mastrangelo, Mario; Leuzzi, Vincenzo; Tay, Stacy K H; Sykut-Cegielska, Jolanta; Pons, Roser; Mercimek-Andrews, Saadet; Kato, Mitsuhiro; Lücke, Thomas; Oppebøen, Mari; Kurian, Manju A; Steel, Dora; Manti, Filippo; Meeks, Kathleen D; Jeltsch, Kathrin; Flint, Lisa

J Inherit Metab Dis

Ueda K; Department of Neurology, Washington University School of Medicine, St. Louis, Missouri, USA.; Aravamuthan BR; Department of Neurology, Washington University School of Medicine, St. Louis, Missouri, USA.; Pearson TS; Department of Neurology, Washington University School of Medicine, St. Louis, Missouri, USA.

Publisher: Blackwell Country of Publication: England NLM ID: 0006761 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1469-8749 (Electronic) Linking ISSN: 00121622 NLM ISO Abbreviation: Dev Med Child Neurol Subsets: MEDLINE

Kuseyri Hübschmann O; University Children's Hospital Heidelberg, Division of Child Neurology and Metabolic Disorders, Heidelberg, Germany.; Juliá-Palacios NA; Inborn Errors of Metabolism Unit, Department of Neurology, Recerca Sant Joan de Déu Institute, CIBERER-ISCIII and MetabERN, Barcelona, Spain.; Olivella M; Bioinformatics and Medical Statistics Group, Faculty of Science and Technology, Vic University-University of Central Catalonia, Barcelona, Spain.; Guder P; Children's Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Zafeiriou DI; First Department of Pediatrics, Aristotle University of Thessaloniki, Thessaloniki, Greece.; Horvath G; Division of Biochemical Genetics, Department of Pediatrics, University of British Columbia, BC Children's Hospital, Vancouver, British Columbia, Canada.; Kulhánek J; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Pearson TS; Department of Neurology, Washington University School of Medicine, St Louis, MO, USA.; Kuster A; Department of Neurometabolism and Metabolic Disorders, University Hospital of Nantes, Nantes, France.; Cortès-Saladelafont E; Inborn Errors of Metabolism Unit, Department of Neurology, Recerca Sant Joan de Déu Institute, CIBERER-ISCIII and MetabERN, Barcelona, Spain.; Inborn Errors of Metabolism and Child Neurology Unit, Department of Pediatrics, Germans Trias i Pujol Hospital, Badalona and Faculty of Medicine, Autonomous University of Barcelona, Barcelona, Spain.; Ibáñez S; Department of Pediatric Neurology, Virgen de la Arrixaca Hospital, Murcia, Spain.; García-Jiménez MC; Metabolic Diseases Unit, Miguel Servet University Hospital, Zaragoza, Spain.; Honzík T; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Santer R; Children's Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Jeltsch K; University Children's Hospital Heidelberg, Division of Child Neurology and Metabolic Disorders, Heidelberg, Germany.; Garbade SF; Dietmar-Hopp Metabolic Center, University Children's Hospital Heidelberg, Heidelberg, Germany.; Hoffmann GF; University Children's Hospital Heidelberg, Division of Child Neurology and Metabolic Disorders, Heidelberg, Germany.; Opladen T; University Children's Hospital Heidelberg, Division of Child Neurology and Metabolic Disorders, Heidelberg, Germany.; García-Cazorla Á; Inborn Errors of Metabolism Unit, Department of Neurology, Recerca Sant Joan de Déu Institute, CIBERER-ISCIII and MetabERN, Barcelona, Spain.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8249 (Electronic) Linking ISSN: 03645134 NLM ISO Abbreviation: Ann Neurol Subsets: MEDLINE

Baribeau DA; Holland Bloorview Kids Rehabilitation Hospital, Toronto, Ontario, Canada; The Hospital for Sick Children, Toronto, Ontario, Canada. Electronic address: danielle.baribeau@mail.utoronto.ca.; Vorstman JAS; The Hospital for Sick Children, Toronto, Ontario, Canada.; Pearson TS; Nationwide Children's Hospital, The Ohio State University, Columbus, Ohio.

Publisher: Elsevier Country of Publication: United States NLM ID: 8704565 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1527-5418 (Electronic) Linking ISSN: 08908567 NLM ISO Abbreviation: J Am Acad Child Adolesc Psychiatry Subsets: MEDLINE

Kuseyri Hübschmann O; University Children's Hospital Heidelberg, Division of Child Neurology and Metabolic Disorders, Heidelberg, Germany.; Horvath G; University of British Columbia, Department of Pediatrics, Division of Biochemical Genetics, BC Children's Hospital, Vancouver, BC, Canada.; Cortès-Saladelafont E; Inborn errors of metabolism Unit, Department of Neurology, Institut de Recerca Sant Joan de Déu and CIBERER-ISCIII, Barcelona, Spain.; Inborn Errors of Metabolism and Child Neurology Unit, Department of Pediatrics, Hospital Germans Trias i Pujol, Badalona and Faculty of Medicine, Universitat Autònoma de Barcelona, Barcelona, Spain.; Yıldız Y; Hacettepe University, Faculty of Medicine, Department of Pediatrics, Section of Metabolism, Ankara, Turkey.; Mastrangelo M; Department of Human Neuroscience, Unit of Child Neurology and Psychiatry, Università degli Studi di Roma La Sapienza, Rome, Italy.; Pons R; First Department of Pediatrics of the University of Athens, Aghia Sofia Hospital, Athens, Greece.; Friedman J; UCSD Departments of Neuroscience and Pediatrics; Rady Children's Hospital Division of Neurology, Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.; Mercimek-Andrews S; Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children 555 University Avenue Toronto, Toronto, ON, Canada.; Wong SN; Department of Pediatrics and Adolescent Medicine, The Hong Kong Childrenś Hospital, Hong Kong, Hong Kong.; Pearson TS; Department of Neurology, Washington University School of Medicine, St. Louis, MO, USA.; Zafeiriou DI; First Department of Pediatrics Aristotle University of Thessaloniki Egnatia St. 106, Thessaloniki, Greece.; Kulhánek J; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Kurian MA; Developmental Neurosciences, UCL Great Ormond Street-Institute of Child Health and Department of Neurology, Great Ormond Street Hospital, London, UK.; López-Laso E; Pediatric Neurology Unit, Department of Pediatrics, University Hospital Reina Sofía, IMIBIC and CIBERER, Córdoba, Spain.; Oppebøen M; Childrenś Department Division of Child Neurology Oslo University Hospital Rikshospitalet Pb 4956 Nydalen, Oslo, Norway.; Kılavuz S; Çukurova University, Faculty of Medicine, Department of Pediatrics, Division of Pediatric Metabolism and Nutrition, Adana, Turkey.; Wassenberg T; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Pediatrics, Pediatric Neurology Unit, UZ Brussel VUB, Brussels, Belgium.; Goez H; Department of Pediatrics, University of Alberta Glenrose Rehabilitation Hospital, Edmonton, AB, Canada.; Scholl-Bürgi S; Clinic for Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria.; Porta F; Department of Pediatrics, AOU Città della Salute e della Scienza, Torino, Italy.; Honzík T; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Santer R; Children's Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Burlina A; U.O.C. Malattie Metaboliche Ereditarie, Dipartimento della Salute della Donna e del Bambino, Azienda Ospedaliera Universitaria di Padova - Campus Biomedico Pietro d'Abano, Padova, Italy.; Sivri HS; Hacettepe University, Faculty of Medicine, Department of Pediatrics, Section of Metabolism, Ankara, Turkey.; Leuzzi V; Department of Human Neuroscience, Unit of Child Neurology and Psychiatry, Università degli Studi di Roma La Sapienza, Rome, Italy.; Hoffmann GF; University Children's Hospital Heidelberg, Division of Child Neurology and Metabolic Disorders, Heidelberg, Germany.; Jeltsch K; University Children's Hospital Heidelberg, Division of Child Neurology and Metabolic Disorders, Heidelberg, Germany.; Hübschmann D; German Cancer Consortium (DKTK), Heidelberg, Germany.; Computational Oncology, Molecular Diagnostics Program, National Center for Tumor Diseases, DKFZ, Heidelberg, Germany.; Heidelberg Institute for Stem cell Technology and Experimental Medicine (HI-STEM), Heidelberg, Germany.; Department of Pediatric Immunology, Hematology and Oncology, Heidelberg University Hospital, Heidelberg, Germany.; Garbade SF; University Children's Hospital Heidelberg, Dietmar-Hopp Metabolic Center, Heidelberg, Germany.; García-Cazorla A; Inborn errors of metabolism Unit, Department of Neurology, Institut de Recerca Sant Joan de Déu and CIBERER-ISCIII, Barcelona, Spain.; Opladen T; University Children's Hospital Heidelberg, Division of Child Neurology and Metabolic Disorders, Heidelberg, Germany. Thomas.Opladen@med.uni-heidelberg.de.

Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

Abreu, Damien; Stone, Stephen I; Pearson, Toni S; Bucelli, Robert C; Simpson, Ashley N; Hurst, Stacy; Brown, Cris M; Kries, Kelly; Onwumere, Chinyere; Gu, Hongjie; Hoekel, James; Tychsen, Lawrence; Van Stavern, Gregory P; White, Neil H; Marshall, Bess A; Hershey, Tamara; Urano, Fumihiko

JCI Insight
JCI Insight, Vol 6, Iss 15 (2021)

Pearson TS; Department of Neurological Surgery, University of California San Francisco, San Francisco, CA, USA.; Department of Neurology, Washington University School of Medicine, St. Louis, MO, USA.; Gupta N; Department of Neurological Surgery, University of California San Francisco, San Francisco, CA, USA.; San Sebastian W; Department of Neurological Surgery, University of California San Francisco, San Francisco, CA, USA.; Imamura-Ching J; Department of Neurological Surgery, University of California San Francisco, San Francisco, CA, USA.; Viehoever A; Department of Neurology, University of California San Francisco, San Francisco, CA, USA.; Grijalvo-Perez A; Department of Neurology, University of California San Francisco, San Francisco, CA, USA.; Fay AJ; Department of Neurology, University of California San Francisco, San Francisco, CA, USA.; Seth N; Department of Rehabilitative Services, University of California San Francisco, San Francisco, CA, USA.; Lundy SM; Department of Pediatrics, University of California San Francisco, San Francisco, CA, USA.; Seo Y; Department of Radiology and Biomedical Imaging, University of California San Francisco, San Francisco, CA, USA.; Pampaloni M; Department of Radiology and Biomedical Imaging, University of California San Francisco, San Francisco, CA, USA.; Hyland K; Medical Neurogenetics Laboratories, Atlanta, GA, USA.; Smith E; Therapy Services, St. Louis Children's Hospital, St. Louis, MO, USA.; de Oliveira Barbosa G; School of Health and Rehabilitation Sciences, The Ohio State University, Columbus, OH, USA.; Heathcock JC; School of Health and Rehabilitation Sciences, The Ohio State University, Columbus, OH, USA.; Minnema A; Department of Neurological Surgery, The Ohio State University, Columbus, OH, USA.; Lonser R; Department of Neurological Surgery, The Ohio State University, Columbus, OH, USA.; Elder JB; Department of Neurological Surgery, The Ohio State University, Columbus, OH, USA.; Leonard J; Department of Neurological Surgery, The Ohio State University, Columbus, OH, USA.; Department of Neurological Surgery, Nationwide Children's Hospital, Columbus, OH, USA.; Larson P; Department of Neurological Surgery, University of California San Francisco, San Francisco, CA, USA.; Bankiewicz KS; Department of Neurological Surgery, University of California San Francisco, San Francisco, CA, USA. Krzysztof.Bankiewicz@osumc.edu.; Department of Neurological Surgery, The Ohio State University, Columbus, OH, USA. Krzysztof.Bankiewicz@osumc.edu.

Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

Jaleel F; Division of Pediatric Neurology, Department of Neurology, Washington University School of Medicine, St. Louis, Missouri, USA.; Rust A; Division of Pediatric Neurology, Department of Neurology, Washington University School of Medicine, St. Louis, Missouri, USA.; Cheung S; Division of Pediatric Neurology, Department of Neurology, Washington University School of Medicine, St. Louis, Missouri, USA.; Pearson TS; Division of Pediatric Neurology, Department of Neurology, Washington University School of Medicine, St. Louis, Missouri, USA.; Division of Neurology, Nationwide Children's Hospital, Ohio State University, Columbus, Ohio, USA.; Ueda K; Division of Pediatric Neurology, Department of Neurology, Washington University School of Medicine, St. Louis, Missouri, USA.; Robichaux-Viehoever A; Division of Pediatric Neurology, Department of Neurology, Washington University School of Medicine, St. Louis, Missouri, USA.; Leger K; Division of Pediatric Neurology, Department of Neurology, Washington University School of Medicine, St. Louis, Missouri, USA.; Chintalapati K; Division of Pediatric Neurology, Department of Neurology, Washington University School of Medicine, St. Louis, Missouri, USA.; Guez-Barber D; Division of Child Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Shusterman M; The Cerebral Palsy Research Network, Salt Lake City, Utah, USA.; Aravamuthan B; Division of Pediatric Neurology, Department of Neurology, Washington University School of Medicine, St. Louis, Missouri, USA.

Publisher: Wiley Periodicals, Inc on behalf of American Neurological Association Country of Publication: United States NLM ID: 101623278 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2328-9503 (Electronic) Linking ISSN: 23289503 NLM ISO Abbreviation: Ann Clin Transl Neurol Subsets: MEDLINE

Pearson, Toni S; Pons, Roser; Engelstad, Kristin; Kane, Steven A; Goldberg, Michael E; De Vivo, Darryl C

Neurology

Chintalapati K; Division of Pediatric Neurology, Department of Neurology, Washington University School of Medicine and St. Louis Children's Hospital, St. Louis, Missouri.; Pearson TS; Division of Pediatric Neurology, Department of Neurology, Washington University School of Medicine and St. Louis Children's Hospital, St. Louis, Missouri; Nationwide Children's Hospital, Columbus, Ohio.; Ueda K; Division of Pediatric Neurology, Department of Neurology, Washington University School of Medicine and St. Louis Children's Hospital, St. Louis, Missouri.; Aravamuthan BR; Division of Pediatric Neurology, Department of Neurology, Washington University School of Medicine and St. Louis Children's Hospital, St. Louis, Missouri. Electronic address: aravamuthanb@wustl.edu.

Publisher: Elsevier Science Publishing Country of Publication: United States NLM ID: 8508183 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-5150 (Electronic) Linking ISSN: 08878994 NLM ISO Abbreviation: Pediatr Neurol Subsets: MEDLINE

Accogli A; Division of Medical Genetics, Department of Specialized Medicine, Montreal Children's Hospital, McGill University Health Centre (MUHC), Montreal, Canada; Department of Human Genetics, McGill University, Montreal, QC, Canada.; Lin SJ; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK.; Severino M; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Kim SH; Goodman Cancer Institute, McGill University, Montreal, Canada; Department of Biochemistry, McGill University, Montreal, Canada.; Huang K; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK.; Rocca C; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom.; Landsverk M; University of South Dakota Sanford School of Medicine Sioux Falls, SD; Sanford Research, Pediatrics and Rare Diseases Group, Sioux Falls, SD.; Zaki MS; Human Genetics and Genome Research Institute, Clinical Genetics Department, National Research Centre, Cairo, Egypt.; Al-Maawali A; Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman; Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, Muscat, Oman.; Srinivasan VM; Indira Gandhi Institute of Child Health, Bangalore, India.; Al-Thihli K; Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman; Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, Muscat, Oman.; Schaefer GB; Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR.; Davis M; Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR.; Tonduti D; Unit of Pediatric Neurology, COALA (Center for Diagnosis and Treatment of Leukodystrophies), V. Buzzi Children's Hospital, Milan, Italy; Department of Biomedical and Clinical Sciences, University of Milan, Milan, Italy.; Doneda C; Pediatric Radiology and Neuroradiology Department, Children's Hospital Vittore Buzzi, Milan, Italy.; Marten LM; Department of Pediatrics and Adolescent Medicine, University Medical Center Göttingen, Germany.; Mühlhausen C; Department of Pediatrics and Adolescent Medicine, University Medical Center Göttingen, Germany.; Gomez M; Centro de Obsetricia y Ginecologia & Centro Medico Moderno, Santo Domingo, Dominican Republic.; Lamantea E; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Mena R; Division of Neonatology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH; Centro de Obsetricia y Ginecologia, Santo Domingo, Dominican Republic.; Nizon M; Service de Génétique Médicale, CHU de Nantes, Nantes Université, Nantes, France; Nantes Université, CNRS, INSERM, l'Institut du Thorax, Nantes, France.; Procaccio V; University of Angers, MitoLab Team, Unité MitoVasc, UMR CNRS 6015, INSERM U1083, SFR ICAT, Angers, France; Department of Genetics, CHU Angers, Angers, France.; Begtrup A; GeneDx, Gaithersburg, MD.; Telegrafi A; GeneDx, Gaithersburg, MD.; Cui H; GeneDx, Gaithersburg, MD.; Schulz HL; Human Genetic center Tübingen, Baden-Württemberg, Germany.; Mohr J; Human Genetic center Tübingen, Baden-Württemberg, Germany.; Biskup S; Human Genetic center Tübingen, Baden-Württemberg, Germany; CeGaT GmbH, Germany.; Loos MA; Department of Neurology, Hospital de Pediatría Juan P. Garrahan, Buenos Aires, Argentina.; Aráoz HV; Genomics Laboratory, Hospital de Pediatría Juan P. Garrahan, Buenos Aires, Argentina.; Salpietro V; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Biotechnological and Applied Clinical Sciences, University of L'Aquila, L'Aquila, Italy.; Keppen LD; University of South Dakota Sanford School of Medicine Sioux Falls, SD; Sanford Research, Pediatrics and Rare Diseases Group, Sioux Falls, SD.; Chitre M; Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom.; Petree C; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK.; Raymond L; Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom.; Vogt J; West Midlands Regional Genetics Service, Birmingham Women and Children's Hospital NHS Foundation Trust, Birmingham, United Kingdom.; Sawyer LB; Children's Hospital of the King's Daughters, Norfolk, Virginia, VA.; Basinger AA; Children's Hospital of the King's Daughters, Norfolk, Virginia, VA.; Pedersen SV; Department of Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.; Pearson TS; Department of Neurology, Washington University School of Medicine, St. Louis, MO.; Grange DK; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO; Center for the Investigation of Membrane Excitability Diseases (CIMED), St. Louis, MO.; Lingappa L; Rainbow Children Hospital, Hyderabad, India.; McDunnah P; Division of Medical Genetics, Nemours/A I duPont Hospital for Children, Wilmington, DE.; Horvath R; Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom.; Cognè B; Service de Génétique Médicale, CHU de Nantes, Nantes Université, Nantes, France; Nantes Université, CNRS, INSERM, l'Institut du Thorax, Nantes, France.; Isidor B; Service de Génétique Médicale, CHU de Nantes, Nantes Université, Nantes, France.; Hahn A; Department of Child Neurology, University Hospital, Gießen, Germany.; Gripp KW; Division of Medical Genetics, Nemours/A I duPont Hospital for Children, Wilmington, DE.; Jafarnejad SM; Patrick G. Johnston Centre for Cancer Research, Queen's University Belfast, Belfast, United Kingdom.; Østergaard E; Department of Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.; Prada CE; Division of Genetics, Genomics, and Metabolism, Ann & Robert Lurie Children's Hospital of Chicago, Chicago; Department of Pediatrics, Feinberg School of Medicine, Northwestern University, Chicago; Fundacion Cardiovascular de Colombia, Floridablanca, Colombia.; Ghezzi D; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.; Gowda VK; Indira Gandhi Institute of Child Health, Bangalore, India.; Taylor RW; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, United Kingdom; NHS Highly Specialized Service for Rare Mitochondrial Disorders of Adults and Children, Newcastle University, Newcastle upon Tyne, United Kingdom.; Sonenberg N; Goodman Cancer Institute, McGill University, Montreal, Canada; Department of Biochemistry, McGill University, Montreal, Canada.; Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom.; Sissler M; ARNA - UMR5320 CNRS - U1212 INSERM, Université de Bordeaux, IECB, Pessac, France.; Varshney GK; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK. Electronic address: gauravvarshney@omrf.org.; Maroofian R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom. Electronic address: r.maroofian@ucl.ac.uk.

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