Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
Neurol 100:766-783, Manini,A.,&Pantoni,L., 2023
Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
Lancet Neurol 18:1136-1146, Shribman,S.,et al, 2019
Dystonia in Children and Adolescents: A Systematic Review and a New Diagnostic Algorithm
JNNP 86:774-781, Van Egmond, M.E.,et al, 2015
The Autosomal Recessive Cerebellar Ataxias
NEJM 366:636-646, Anheim,M.,et al, 2012
An unusual cause of stroke and hypoxia
BMJ 342:c7200, Bell, S.L. & Eveson, D.J., 2011
Genetic Aspects of Alzheimer Disease
The Neurologist 15:80-86, Williamson,J.,et al, 2009
Screening for von Hippel-Lindau Disease by DNA Polymorphism Analysis
JAMA 267:1226-1231, Glenn,G.M.,et al, 1992
VonHippel-Lindau Disease
Editorial, Lancet 337:10651991., , 1991
Molecular Genetics of Duchenne and Becker Muscular Dystrophy
J Pediatr 117:1-15, Darras,B.T., 1990