De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy-Reference-Cited by-同舟云学术

De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy

Published:2014-11-27 Issue:1 Volume:36 Page:69-78
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Lee Jae-Ran¹,Srour Myriam²,Kim Doyoun³,Hamdan Fadi. F.²,Lim So-Hee¹,Brunel-Guitton Catherine²,Décarie Jean-Claude⁴,Rossignol Elsa²⁵⁶,Mitchell Grant A.²⁵,Schreiber Allison⁷,Moran Rocio⁷,Van Haren Keith⁸,Richardson Randal⁹,Nicolai Joost¹⁰,Oberndorff Karin M.E.J.¹¹,Wagner Justin D.¹²,Boycott Kym M.¹²,Rahikkala Elisa¹³,Junna Nella¹⁴,Tyynismaa Henna¹⁴,Cuppen Inge¹⁵,Verbeek Nienke E.¹⁶,Stumpel Connie T.R.M.¹⁷,Willemsen Michel A.¹⁸,de Munnik Sonja A.¹⁹,Rouleau Guy A.²⁰,Kim Eunjoon³²¹,Kamsteeg Erik-Jan¹⁹,Kleefstra Tjitske¹⁹,Michaud Jacques L.²⁵⁶

Affiliation:

1. Biomedical Proteomics Research Center; Korea Research Institute of Bioscience and Biotechnology; Daejeon Korea

2. CHU Sainte-Justine Research Center; Montreal Canada

3. Center for Synaptic Brain Dysfunctions; Institute for Basic Science (IBS); Daejeon Korea

4. Department of Medical Imaging; CHU Sainte-Justine; Montreal Canada

5. Department of Pediatrics; University of Montreal; Montreal Canada

6. Department of Neurosciences; University of Montreal; Montreal Canada

7. Genomic Medicine Institute; Cleveland Clinic; Cleveland Ohio

8. Department of Neurology; Stanford University; Division of Child Neurology; Lucile Packard Children's Hospital; Stanford California

9. Gillette Children's Specialty Healthcare; St. Paul Minnesota

10. Department of Neurology; Maastricht University Medical Center; Maastricht The Netherlands

11. Orbis Medical Center; Sittard The Netherlands

12. Children's Hospital of Eastern Ontario Research Institute; University of Ottawa; Ottawa Canada

13. Department of Clinical Genetics; Medical Research Center; Oulu University Hospital and University of Oulu; Oulu Finland

14. Research Programs Unit; Molecular Neurology; University of Helsinki; Helsinki Finland

15. Department of Neurology; University Medical Centre Utrecht; Utrecht The Netherlands

16. Department of Medical Genetics; University Medical Center Utrecht; Utrecht The Netherlands

17. Department of Clinical Genetics and School for Oncology and Developmental Biology (GROW); Maastricht University Medical Center; Maastricht The Netherlands

18. Department of Pediatric Neurology; Radboud University Medical Centre; Nijmegen The Netherlands

19. Department of Human Genetics; Radboud University Medical Center; Nijmegen The Netherlands

20. Montreal Neurological Institute; McGill University; Montreal Canada

21. Department of Biological Sciences; Korea Advanced Institute of Science and Technology (KAIST); Daejeon Korea

Funder

Fondation Jean-Louis LÃ©vesque

Genome Canada

Genome Quebec

National Research Foundation of Korea

Ontario Genomics Institute

Ontario Research Fund

The Netherlands Organization for Health Research and Development

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference30 articles.

1. A method and server for predicting damaging missense mutations;Adzhubei;Nat Methods,2010

2. Diagnostic exome sequencing in persons with severe intellectual disability;Ligt;N Engl J Med,2012

3. Schrödinger 2010 PyMOL The PyMOL Molecular Graphics System, Version 1.3, Schrödinger, LLC

4. Novel de novo SPOCK1 mutation in a proband with developmental delay, microcephaly and agenesis of corpus callosum;Dhamija;Eur J Med Genet,2014

5. Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis;Erlich;Genome Res,2011

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