부산대학교 도서관

Hamilton EM; Polder E; Vanderver A; Naidu S; Schiffmann R; Fisher K; Raguz AB; Blumkin L; H-ABC Research Group; Battini R; Van Berkel CG; Waisfisz Q; Simons C; Taft RJ; Abbink TE; Wolf NI; Van Der Knaap MS

Hamilton, E M C, Polder, E, Vanderver, A, Naidu, S, Schiffmann, R, Fisher, K, Raguz, A B, Blumkin, L, van Berkel, C G M, Waisfisz, Q, Simons, C, Taft, R J, Abbink, G E M, Wolf, N I & van der Knaap, M S 2014, 'Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation', Brain, vol. 137, pp. 1921-1930. https://doi.org/10.1093/brain/awu110

Engl; CG; Priest T; Zhang G; Sun X; Patel DN; McNally LR; van Berkel V; Gobin AM; Frieboes HB

International Journal of Nanomedicine, Vol 2013, Iss Issue 1, Pp 3603-3617 (2013)

Hamilton, EM; Vanderver, A; Siriwardena, K; Pinelli, L; Schiffmann, R; Blaser, S; Naidu, S; van Berkel, CG; Polder, E; Abbink, TE; Wolf, NI; van der Knaap, MS

European Journal of Paediatric Neurology. 17:S13-S13

Hamilton, EM; van Berge, L; Steenweg, ME; Linnankivi, T; Uziel, G; Krägeloh-Mann, I; Brautaset, NJ; Andrews, I; de Coo, IF; van Berkel, CG; Polder, E; Scheper, GC

European Journal of Paediatric Neurology. 17:S7-S7

Theunissen TE; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, Netherlands; Department of Genetics and Cell Biology, School for Oncology and Developmental Biology, Maastricht University Medical Centre, Maastricht, Netherlands.; Szklarczyk R; Department of Clinical Genetics, Maastricht University Medical Centre , Maastricht , Netherlands.; Gerards M; Maastricht Centre for Systems Biology (MaCSBio) , Maastricht , Netherlands.; Hellebrekers DM; Department of Clinical Genetics, Maastricht University Medical Centre , Maastricht , Netherlands.; Mulder-Den Hartog EN; Department of Neurology , Erasmus MC, Rotterdam , Netherlands.; Vanoevelen J; Department of Clinical Genetics, Maastricht University Medical Centre , Maastricht , Netherlands.; Kamps R; Department of Clinical Genetics, Maastricht University Medical Centre , Maastricht , Netherlands.; de Koning B; Department of Clinical Genetics, Maastricht University Medical Centre , Maastricht , Netherlands.; Rutledge SL; Department of Neurology and Genetics, University of Alabama at Birmingham , Birmingham, AL , USA.; Schmitt-Mechelke T; Department of Neuropediatrics, Luzerner Kantonsspital , Kinderspital, Luzern , Switzerland.; van Berkel CG; Department of Child Neurology, Neuroscience Campus Amsterdam, VU University Medical Center , Amsterdam , Netherlands.; van der Knaap MS; Department of Child Neurology, Neuroscience Campus Amsterdam, VU University Medical Center , Amsterdam , Netherlands.; de Coo IF; Department of Neurology , Erasmus MC, Rotterdam , Netherlands.; Smeets HJ; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, Netherlands; Department of Genetics and Cell Biology, School for Oncology and Developmental Biology, Maastricht University Medical Centre, Maastricht, Netherlands; Maastricht Centre for Systems Biology (MaCSBio), Maastricht, Netherlands.

Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101546899 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2295 (Print) Linking ISSN: 16642295 NLM ISO Abbreviation: Front Neurol Subsets: PubMed not MEDLINE

Dallabona C; 1 Department of Life Sciences, University of Parma, Parma, Italy.; Abbink TE; 2 Department of Child Neurology, VU University Medical Center, Amsterdam, The Netherlands.; Carrozzo R; 3 Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, 'Bambino Gesù' Children's Hospital, IRCCS, Rome, Italy.; Torraco A; 3 Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, 'Bambino Gesù' Children's Hospital, IRCCS, Rome, Italy.; Legati A; 4 Unit of Molecular Neurogenetics, Foundation IRCCS Neurological Institute C. Besta, Milan, Italy.; van Berkel CG; 2 Department of Child Neurology, VU University Medical Center, Amsterdam, The Netherlands.; Niceta M; 5 Molecular Genetics and Genomics Unit, Division of Genetics and Rare Diseases, 'Bambino Gesù' Children's Hospital, IRCCS, Rome, Italy.; Langella T; 4 Unit of Molecular Neurogenetics, Foundation IRCCS Neurological Institute C. Besta, Milan, Italy.; Verrigni D; 3 Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, 'Bambino Gesù' Children's Hospital, IRCCS, Rome, Italy.; Rizza T; 3 Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, 'Bambino Gesù' Children's Hospital, IRCCS, Rome, Italy.; Diodato D; 3 Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, 'Bambino Gesù' Children's Hospital, IRCCS, Rome, Italy.; Piemonte F; 3 Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, 'Bambino Gesù' Children's Hospital, IRCCS, Rome, Italy.; Lamantea E; 4 Unit of Molecular Neurogenetics, Foundation IRCCS Neurological Institute C. Besta, Milan, Italy.; Fang M; 6 BGI-Shenzhen, Shenzhen 518083, China 7 Shenzhen Key Laboratory of Neurogenomics, BGI-Shenzhen, Shenzhen 518083, China.; Zhang J; 6 BGI-Shenzhen, Shenzhen 518083, China 7 Shenzhen Key Laboratory of Neurogenomics, BGI-Shenzhen, Shenzhen 518083, China.; Martinelli D; 8 Division of Metabolism, 'Bambino Gesù' Children's Hospital, Rome, Italy.; Bevivino E; 8 Division of Metabolism, 'Bambino Gesù' Children's Hospital, Rome, Italy.; Dionisi-Vici C; 8 Division of Metabolism, 'Bambino Gesù' Children's Hospital, Rome, Italy.; Vanderver A; 9 Department of Neurology, Children's National Medical Center, Washington, USA.; Philip SG; 10 Department of Pediatric Neurology, Birmingham Children's Hospital, Birmingham, UK.; Kurian MA; 11 Department of Neurology, Great Ormond Street Hospital, London, UK 12 Developmental Neurosciences, UCL-Institute of Child Health, London, UK.; Verma IC; 13 Department of Genetic Medicine, Sir Ganga Ram Hospital, New Delhi, India.; Bijarnia-Mahay S; 13 Department of Genetic Medicine, Sir Ganga Ram Hospital, New Delhi, India.; Jacinto S; 14 Paediatric Neurology Department, Hospital Dona Estefânia, Centro Hospitalar de Lisboa Central, Lisbon, Portugal.; Furtado F; 15 Paediatric Department, Unidade Local de Saúde do Baixo Alentejo, Beja, Portugal.; Accorsi P; 16 Child Neuropsychiatry Unit, Spedali Civili, Brescia, Italy.; Ardissone A; 17 Child Neurology Unit, Foundation IRCCS Neurological Institute C. Besta, Milan, Italy.; Moroni I; 17 Child Neurology Unit, Foundation IRCCS Neurological Institute C. Besta, Milan, Italy.; Ferrero I; 1 Department of Life Sciences, University of Parma, Parma, Italy.; Tartaglia M; 5 Molecular Genetics and Genomics Unit, Division of Genetics and Rare Diseases, 'Bambino Gesù' Children's Hospital, IRCCS, Rome, Italy.; Goffrini P; 1 Department of Life Sciences, University of Parma, Parma, Italy.; Ghezzi D; 4 Unit of Molecular Neurogenetics, Foundation IRCCS Neurological Institute C. Besta, Milan, Italy enricosilvio.bertini@opbg.net ms.vanderknaap@vumc.nl dghezzi@istituto-besta.it.; van der Knaap MS; 2 Department of Child Neurology, VU University Medical Center, Amsterdam, The Netherlands enricosilvio.bertini@opbg.net ms.vanderknaap@vumc.nl dghezzi@istituto-besta.it.; Bertini E; 3 Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, 'Bambino Gesù' Children's Hospital, IRCCS, Rome, Italy enricosilvio.bertini@opbg.net ms.vanderknaap@vumc.nl dghezzi@istituto-besta.it.

Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

van Berge L; 1 Department of Child Neurology, VU University Medical Centre, Neuroscience Campus, Amsterdam, De Boelelaan 1117, 1081 HV Amsterdam, The Netherlands.; Hamilton EM; Linnankivi T; Uziel G; Steenweg ME; Isohanni P; Wolf NI; Krägeloh-Mann I; Brautaset NJ; Andrews PI; de Jong BA; al Ghamdi M; van Wieringen WN; Tannous BA; Hulleman E; Würdinger T; van Berkel CG; Polder E; Abbink TE; Struys EA; Scheper GC; van der Knaap MS

Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

Kevelam SH; Department of Child Neurology, VU Medical Center, Amsterdam, The Netherlands; Department of Clinical Genetics, Medical Genomics Section, Amsterdam, The Netherlands.; van Engelen BG; van Berkel CG; Küsters B; van der Knaap MS

Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 7803146 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-4598 (Electronic) Linking ISSN: 0148639X NLM ISO Abbreviation: Muscle Nerve Subsets: MEDLINE

Steenweg ME; VU University Medical Centre, De Boelelaan 1117, Amsterdam, The Netherlands. ms.vanderknaap@vumc.nl; Ghezzi D; Haack T; Abbink TE; Martinelli D; van Berkel CG; Bley A; Diogo L; Grillo E; Te Water Naudé J; Strom TM; Bertini E; Prokisch H; van der Knaap MS; Zeviani M

Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

van Berge L; van Berkel CG; Scheper GC; van der Knaap MS

Publisher: Sage Country of Publication: United States NLM ID: 8606714 Publication Model: Print Cited Medium: Internet ISSN: 1708-8283 (Electronic) Linking ISSN: 08830738 NLM ISO Abbreviation: J Child Neurol Subsets: MEDLINE

de Winter JP; Department of Clinical Genetics, Free University, Amsterdam, The Netherlands.; Rooimans MA; van Der Weel L; van Berkel CG; Alon N; Bosnoyan-Collins L; de Groot J; Zhi Y; Waisfisz Q; Pronk JC; Arwert F; Mathew CG; Scheper RJ; Hoatlin ME; Buchwald M; Joenje H

Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print Cited Medium: Print ISSN: 1061-4036 (Print) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

Wijker M; Department of Human Genetics, Free University of Amsterdam, The Netherlands.; Morgan NV; Herterich S; van Berkel CG; Tipping AJ; Gross HJ; Gille JJ; Pals G; Savino M; Altay C; Mohan S; Dokal I; Cavenagh J; Marsh J; van Weel M; Ortega JJ; Schuler D; Samochatova E; Karwacki M; Bekassy AN; Abecasis M; Ebell W; Kwee ML; de Ravel T; CG Mathew; et. al.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print Cited Medium: Print ISSN: 1018-4813 (Print) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

Scheper GC; Department of Pediatrics and Child Neurology, Vrije University Medical Center, 1081 HV Amsterdam, The Netherlands. gc.scheper@vumc.nl; van der Klok T; van Andel RJ; van Berkel CG; Sissler M; Smet J; Muravina TI; Serkov SV; Uziel G; Bugiani M; Schiffmann R; Krägeloh-Mann I; Smeitink JA; Florentz C; Van Coster R; Pronk JC; van der Knaap MS

Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1061-4036 (Print) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

Leegwater PA; Department of Child Neurology, Free University Medical Center, Van der Boechorststraat 7, 1081 BT Amsterdam, The Netherlands.; Vermeulen G; Könst AA; Naidu S; Mulders J; Visser A; Kersbergen P; Mobach D; Fonds D; van Berkel CG; Lemmers RJ; Frants RR; Oudejans CB; Schutgens RB; Pronk JC; van der Knaap MS

Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print Cited Medium: Print ISSN: 1061-4036 (Print) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

Waisfisz Q; Department of Clinical Genetics and Human Genetics, Free University, Amsterdam, The Netherlands.; Morgan NV; Savino M; de Winter JP; van Berkel CG; Hoatlin ME; Ianzano L; Gibson RA; Arwert F; Savoia A; Mathew CG; Pronk JC; Joenje H

Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print Cited Medium: Print ISSN: 1061-4036 (Print) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

Cleton-Jansen AM; Department of Pathology, Leiden University Medical Center, The Netherlands.; Moerland EW; Pronk JC; van Berkel CG; Apostolou S; Crawford J; Savoia A; Auerbach AD; Mathew CG; Callen DF; Cornelisse CJ

Publisher: Nature Publishing Group on behalf of Cancer Research UK Country of Publication: England NLM ID: 0370635 Publication Model: Print Cited Medium: Print ISSN: 0007-0920 (Print) Linking ISSN: 00070920 NLM ISO Abbreviation: Br J Cancer Subsets: MEDLINE

van Kollenburg, B; Thomas, AAM; Vermeulen, G; Bertrand, GAM; van Berkel, CGM; Pronk, JC; Proud, CG; van der Knaap, MS; Scheper, GC

NEUROBIOLOGY OF DISEASE; MAR 2006, 21 3, p496-p504, 9p.

Van der Horst, Armando; Schavemaker, Jolanda M.; Berkel, Wendy Pellis-Van; Burgering, Boudewijn M.T.

Mechanisms of Ageing and Development. April, 2007, Vol. 128 Issue 4, p346, 4 p.

de Winter JP; Department of Human Genetics, Free University, Amsterdam, The Netherlands.; Waisfisz Q; Rooimans MA; van Berkel CG; Bosnoyan-Collins L; Alon N; Carreau M; Bender O; Demuth I; Schindler D; Pronk JC; Arwert F; Hoehn H; Digweed M; Buchwald M; Joenje H

Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print Cited Medium: Print ISSN: 1061-4036 (Print) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

van der Knaap, MS; van Berkel, CGM; Herms, J; van Coster, R; Baethmann, M; Naidu, S; Boltshauser, E; Willemsen, MAAP; Plecko, B; Hoffmann, GF; Proud, CG; Scheper, GC; Pronk, JC

AMERICAN JOURNAL OF HUMAN GENETICS; NOV 2003, 73 5, p1199-p1207, 9p.