Fragile X Premutation With Atypical Symptoms at Onset
Arch Neurol 63:1135-1138, Cellini,E.,et al, 2006
Trinucleotide Repeat Expansion in Neurological Disease
Ann Neurol 36:814-822, LaSpada,A.R.,et al, 1994
Molecular Genetics in Neurology
Ann Neurol 34:757-773, Martin,J.B., 1993
The Autosomal Recessive Cerebellar Ataxias
NEJM 366:636-646, Anheim,M.,et al, 2012
Practice Parameter: Evaluation of the Child with Global Developmental Delay
Neurol 60:367-380, Shevell,M.,et al, 2003
Advances in Molecular Analysis of Fragile X Syndrome
552, Warren,W.T.&Nelson,D.L.JAMA 271:536-553, 1994
Molecular Genetic Advances in Fragile X Syndrome
J Pediatr 122:169-185, Tarleton,J.C.&Saul,R.A., 1993
Wilson Disease
Medicine 71:139-164, Brewer,G.J.&Yuzbasiyan-Gurkan,V., 1992
Population Screening for Fragile X
Lancet 339:1210-1213, Turner,G.,et al, 1992
Dystonia in Children and Adolescents: A Systematic Review and a New Diagnostic Algorithm
JNNP 86:774-781, Van Egmond, M.E.,et al, 2015
A 23-Year-Old Man With Seizures and Visual Deficit
Neurol 70:73-78, Boustany,R.-M.,et al, 2008
Whipples Disease
NEJM 356:55-66, Fenollar,F.,et al, 2007
Clinicopath Conf, Dopamine-Responsive-Dystonia Caused by a Mutation in the GCH1 Gene
NEJM 355:831-839, Case 26-2006, 2006
Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
Brain 129:1674-1684, Horvath, R.,et al, 2006
Mitochondrial DNA Polymerase-y and Human Disease
Hum Mol Genet 15:R244-R252, Hudson, G.,et al, 2006
Progressive Myoclonic Epilepsies: A Review of Genetic and Therapeutic Aspects
Lancet Neurol 4:239-248, Shahwan, A., et al, 2005
The Hereditary Spastic Paraplegias
Arch Neurol 60:1045-1049, Fink,J.K., 2003
Molecular Basis of the Neurodegenerative Disorders
NEJM 340:1970-1980, Martin,J.B., 1999
Distal Myopathies:Clinical and Molecular Diagnosis and Classification
JNNP 67:703-709, Mastaglia,F.J.&Laing,N.G., 1999
Prader-Willi and Angelman Syndromes
Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998
Machado-Joseph Disease in 4 Chinese Pedigrees:Molecular Analysis of 15 Pts
Neurol 48:482-485, Zhou,Y.X.,et al, 1997
Mutations in the Sarcoglycan Genes in Patients with Myopathy
NEJM 336:618-624, Duggan,D.J.,et al, 1997
The X-Linked Infantile Spasms Syndrome (MIM 308350) Maps to Xp11. 4-Xpter in Two Pedigrees
Ann Neurol 42:360-364, Claes,S.,et al, 1997
Spinocerebellar Ataxia Type 6, Molecular & Clin Features of 35 Japanese Pts (1 Homozygous for CAG Repeat Expan)
Neurol 49:1238-1243, 11961997., Matsumura,R.,et al, 1997
Friedreich's Ataxia GAA Repeat Expansion in Pts with Recessive or sporadic Ataxia
Neurol 49:1004-1009, Geschwind,D.H.,et al, 1997
Misdiagnosis Revealed by Genetic Linkage Analysis in a Family with Wilson Disease
Neurol 46:1485-1486, Vidaud,D.,et al, 1996
Investigation of Muscle Disease
JNNP 60:256-274, Mastaglia,F.L.&Laing,N.G., 1996
The Inherited Ataxias and the New Genetics
JNNP 61:327-332, Hammans,S.R., 1996
Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
NEJM 335:1169-1175, 12221996., Durr,A.,et al, 1996
Dentatorubral-Pallidoluysian Atrophy:Clin Features Closely Related to Unstable Expansion of Trinucleotide (CAG) Repeat
Ann Neurol 37:769-775, Ikeuchi,T.,et al, 1995
The Prevention of Neurogenetic Disease
Arch Neurol 52:356-362, 3451995., Rosenberg,R.N.&Iannaccone,S.T., 1995
Mitochondrial DNA and Disease
NEJM 333:638-644, Johns,D.R., 1995
Genetic Homogeneity Between Childhood-Onset and Adult-Onset Autosomal Recessive Spinal Muscular Atrophy
Lancet 346:741-742, Brahe,C.,et al, 1995
Machado Joseph Disease Maps to Same Region of Chromosome 14 as Spinocerebellar Ataxia Type 3 Locus
J Med Genet 32:25-31, Twist,E.C.,et al, 1995
Trinucleotide Repeat Length and Rate of Progression of Huntington's Disease
Ann Neurol 36:630-635, Illarioshkin,S.N.,et al, 1994
Late-Onset Friedreich's Ataxia, Molecular Genetics, Clinical Neurophysiology, and Magnetic Resonance Imaging
Arch Neurol 50:803-806, Klockgether,T.,et al, 1993
GM1 Gangliosidosis in Adults:Clinical and Molecular Analysis of 16 Japanese Patients
Ann Neurol 31:328-332, Yoshida,K.,et al, 1992
Prenatal Diagnosis of Wilson's Disease by Analysis of DNA Polymorphism
NEJM 327:57, Cossu,P.,et al, 1992
Prevalence and Incidence of Becker Muscular Dystrophy
Lancet 337:1022-1024, Bushby,K.M.D.,et al, 1991
More Bad Luck for the X Chromosome:Thalassaemia/Mental Retardation
Lancet 338:1562-1563, , 1991
Relative Increase of T Cells Expressing Gamma/Delta Rather than Alpha/Beta Receptor in Ataxia-Telangietasia
NEJM 322:73-76, 1241990., Carbonari,M.,et al, 1990
Molecular Genetics of Duchenne and Becker Muscular Dystrophy
J Pediatr 117:1-15, Darras,B.T., 1990
Homing in on Wilson's Disease
Editorial, Lancet 1:822-8231989., , 1989
Molecular Biology of Duchenne and Becker's Muscular Dystrophy:Clinical Applications
Ann Neurol 26:189-194, Gutmann,D.H.&Fischbeck,K.H., 1989