Amyotrophic Lateral Sclerosis
Lancet 369:2031-2041, Mitchell,J.D. & Borasio,G.D., 2007
Clinicopath Conf, Charcot-Marie-Tooth Disease Type 2, with Aides Pupil and a Mutation in MPZ Gene
NEJM 354:2584-2592, Case 18-2006, 2006
Hereditary Hemorrhagic Telangiectasia
NEJM 333:918-924, Guttmacher,A.E.,et al, 1995
Clinical and Electrodignostic Features of X-Linked Recessive Bulbospinal Neuronopathy
Neurol 41:823-828, Olney,R.K.,et al, 1991
Genetics of Cluster Headache Takes a Leap
Ann Neurol 90:191-192, Palotie, A., 2021
Fibromuscular Dysplasia and Its Neurologic Manifestations
JAMA Neurol 76:217-226, Touze, E.,et al, 2019
Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
Lancet Neurol 18:1136-1146, Shribman,S.,et al, 2019
FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
Mol Genet Metab 125:281-291, Almannai, M.,et al, 2018
Wilson Disease
NIDDK Oct2018, , 2018
Neurological Management of Von Hippel-Lindau Disease
Neurologist 21:73-78, Hodgson, T.S.,et al, 2016
Clinical Reasoning: A Case of Treatable Spastic Paraparesis
Neurol 79: e50-e53, McKinnon, J.H. & Bosch E.P., 2012
GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
Neurol 77:1287-1294, Prust, M.,et al, 2011
New Aspects on Patients Affected by Dysferlin Deficient Muscular Dystrophy
JNNP 81:946-953, Klinge,L.,et al, 2010
Aicardi-Gouti�res Syndrome
Br Med Bull 89:183-201, Orcesi, S.,et al, 2009
Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts & Leukoencephalopathy (CADASIL)
UpToDate (www.uptodate.com) Aug 21, Dichgans,M.,et al., 2007
Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
Brain 129:1674-1684, Horvath, R.,et al, 2006
The Hereditary Spastic Paraplegias
Arch Neurol 60:1045-1049, Fink,J.K., 2003
The Clinical Spectrum of Familial Hemiplegic Migraine Associated with Mutations in a Neuronal Calcium Channel
NEJM 345:17-24,57, Ducros,A.,et al, 2001
Clinical and Genetic Aspects of Distal Myopathies
Muscle Nerve 24:1440-1450, Saperstein,D.S.,et al, 2001
Hereditary Spastic Paraparesis: A Review of New Developments
JNNP 69:150-160, McDermott,C.J. et al, 2000
Prader-Willi and Angelman Syndromes
Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998
X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
JNNP 63:4-14, vanGeel,B.M.,et al, 1997
Mapping of Hereditary Neuralgic Amyotrophy (Familial Brachial Plexus Neuropathy) to Distal Chromosome 17q
Neurol 46:1128-1132, Pellegrino,J.E.,et al, 1996
Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
NEJM 335:1169-1175, 12221996., Durr,A.,et al, 1996
Gene Analysis of L1 Neural Cell Adhesion Molecule in Prenatal Diagnosis of Hydrocephalus
Lancet 345:161-162, Jouet,M.&Kenwrick,S., 1995
Clinical Spectrum of CADASIL:A Study of 7 Families
Lancet 346:934-939, Chabriat,H.,et al, 1995
Wilson Disease
Medicine 71:139-164, Brewer,G.J.&Yuzbasiyan-Gurkan,V., 1992
Anderson-Fabry Disease
Editorial, Lancet 336:24-251990., , 1990
Von Hippel-Lindau Disease Affecting 43 Members of a Single Kindred
Medicine 68:1-29, Lamiell,J.M.,et al, 1989
Molecular Biology of Duchenne and Becker's Muscular Dystrophy:Clinical Applications
Ann Neurol 26:189-194, Gutmann,D.H.&Fischbeck,K.H., 1989
Anderson-Fabray Disease, A Commonly Missed Diagnosis
BMJ 297:872-873, Morgan,S.H.&Crawfurd,M., 1988