De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy-Reference-Cited by-同舟云学术

De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy

Published:2015-05 Issue:6 Volume:2 Page:623-635
ISSN:2328-9503
Container-title:Annals of Clinical and Translational Neurology
language:en
Short-container-title:Ann Clin Transl Neurol

Author:

Esmaeeli Nieh Sahar¹,Madou Maura R. Z.¹,Sirajuddin Minhajuddin²³,Fregeau Brieana¹,McKnight Dianalee⁴,Lexa Katrina⁵,Strober Jonathan¹,Spaeth Christine⁶,Hallinan Barbara E.⁷,Smaoui Nizar⁴,Pappas John G.⁸,Burrow Thomas A.⁶⁹,McDonald Marie T.¹⁰,Latibashvili Mariam¹¹¹,Leshinsky‐Silver Esther¹²,Lev Dorit¹³,Blumkin Luba¹⁴,Vale Ronald D.²,Barkovich Anthony James¹⁵,Sherr Elliott H.¹

Affiliation:

1. Department of Neurology University of California San Francisco California 94158

2. Department of Cellular and Molecular Pharmacology and the Howard Hughes Medical Institute University of California San Francisco California

3. Cardiovascular Biology and Diseases Institute of Stem Cell Biology and Regenerative Medicine NCBS‐TIFR Bangalore India

4. GeneDx Gaithersburg Maryland

5. Department of Pharmaceutical Chemistry University of California San Francisco San Francisco California

6. Division of Human Genetics Cincinnati Children's Hospital Medical Center Cincinnati Ohio

7. Division of Neurology Cincinnati Children's Hospital Medical Center Cincinnati Ohio

8. Department of Pediatrics Clinical Genetic Services NYU School of Medicine New York New York

9. Department of pediatrics University of Cincinnati School of Medicine Cincinnati Ohio

10. Section of Medical Genetics Department of Pediatrics Duke University Durham North Carolina

11. University of California San Diego California

12. Molecular Genetics Laboratory, and Metabolic‐Neurogenetic Service Wolfson Medical Center and Sackler Medical School Tel Aviv University Tel Aviv Israel

13. Institute of Medical Genetics and Metabolic Neurogenetic Service Wolfson Medical Center and Sackler Medical School Tel Aviv University Tel Aviv Israel

14. Pediatric Neurology Unit and Metabolic Neurogenetic Service Wolfson Medical Center, Holon and Sackler Medical School Tel Aviv University Tel Aviv Israel

15. Department of Radiology and Biomedical Imaging University of California San Francisco California

Funder

National Institute of Neurological Disorders and Stroke

Publisher

Wiley

Subject

Neurology (clinical),General Neuroscience

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/acn3.198

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