Deep IntronicGBE1Mutation in Manifesting Heterozygous Patients With Adult Polyglucosan Body Disease-Reference-Cited by-同舟云学术

Deep IntronicGBE1Mutation in Manifesting Heterozygous Patients With Adult Polyglucosan Body Disease

Published:2015-04-01 Issue:4 Volume:72 Page:441
ISSN:2168-6149
Container-title:JAMA Neurology
language:en
Short-container-title:JAMA Neurol

Author:

Akman H. Orhan¹,Kakhlon Or²,Coku Jorida¹,Peverelli Lorenzo¹,Rosenmann Hanna²,Rozenstein-Tsalkovich Lea²,Turnbull Julie³,Meiner Vardiella⁴,Chama Liat⁴,Lerer Israela⁵,Shpitzen Shoshi⁵,Leitersdorf Eran⁵,Paradas Carmen⁶,Wallace Mary⁷,Schiffmann Raphael⁷,DiMauro Salvatore¹,Lossos Alexander²,Minassian Berge A.³

Affiliation:

1. Houston Merritt Neuromuscular Disease Research Center, Columbia University Medical Center, New York, New York

2. The Agnes Ginges Center for Human Neurogenetics, Department of Neurology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel

3. Program in Genetics and Genome Biology, Department of Pediatrics (Neurology), Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada

4. Department of Human Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel

5. Center for Research, Prevention, and Treatment of Atherosclerosis, Hadassah-Hebrew University Medical Center, Jerusalem, Israel

6. Unidad de Enfermedades Neuromusculares, Servicio de Neurología, Hospital Universitario Virgen del Rocío, Instituto de Biomédicina de Sevilla, Consejo Superior de Investigaciónes Científicas, Universidad de Sevilla, Seville, Spain

7. Institute of Metabolic Disease, Baylor Research Institute, Dallas, Texas

Publisher

American Medical Association (AMA)

Subject

Clinical Neurology

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