A 6-Year-Old Girl with Progressive Toe Walking
Neurol 98:e769-e773, Libdeh, A.A. & Ibrahim, A., 2022
Neurodegeneration with Brain Iron Accumulation
AIAN 22:267-276, Batla, A. & Gaddipati, C., 2019
Huntington Disease: Clinical Features and Diagnosis
UptoDate Dec 2017, Oksana Suchowersky, 2017
Spinal Muscular Atrophy A Timely Review
Arch Neurol 68:979-984, Kolb, S.J.,et al, 2011
Ipsilateral Stroke in a Patient with Horizontal Gaze Palsy with Progressive Scoliosis and a Subcortical Infarct
Stroke 42:e1-e3, Ng, A.S.L.,et al, 2011
Neurologic Manifestations of von Hippel-Lindau Disease
JAMA 300:1334-1342, Butman,J.A.,et al, 2008
Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
Brain 129:1674-1684, Horvath, R.,et al, 2006
Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
NEJM 348:33-40, Hayflick,S.J.,et al, 2003
Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
Neurol 60:1413-1417, Pearl,P.L.,et al, 2003
The Hereditary Spastic Paraplegias
Arch Neurol 60:1045-1049, Fink,J.K., 2003
Amyotrophic Lateral Sclerosis
NEJM 344:1688-1700, Rowland,L.P. & Shneider,N.A., 2001
Hereditary Spastic Paraparesis: A Review of New Developments
JNNP 69:150-160, McDermott,C.J. et al, 2000
Linkage of Familial Amyotrophic Lateral Sclerosis with Frontotemporal Dementia to Chromosome 9q21-q22
JAMA 284:1664-1669, Hosler,B.A.,et al, 2000
Diagnosis of Merosin (Laminin-2) Deficient Congenital Muscular Dystrophy by Skin Biopsy
Lancet 347:582-584, Sewry,C.A.,et al, 1996
From Enigmatic to Problematic:The New Molecular Genetics of Childhood Spinal Muscular Atrophy
Neurol 46:335-340, Crawford,T.O., 1996
Creutzfeldt-Jakob Disease in a Young Woman
Lancet 347:945-948, Tabrizi,S.J.,et al, 1996
Confirmation of Linkage of Oculopharyngeal Muscular Dystrophy to Chromosome 14q11. 2-q13
Ann Neurol 40:801-804, Stajich,J.M.,et al, 1996
Natural History in Proximal Spinal Muscular Atrophy
Arch Neurol 52:518-523, Zerres,K.&Rudnik-Schoneborn,R., 1995
Familial Hemiplegic Migraine and Autosomal Dominant Arteriopathy with Leukoencephalopathy (CADASIL)
Ann Neurol 38:817-824, Hutchinson,M.,et al, 1995
Clinical Spectrum of CADASIL:A Study of 7 Families
Lancet 346:934-939, Chabriat,H.,et al, 1995
Phenotype of Chromosome 14-Linked Familial Alzheimer's Disease in a Large Kindred
Ann Neurol 36:368-378, Lampe,T.H.,et al, 1994
Chromosome 14-Encoded Alzheimer's Disease:Genetic and Clinicopathological Description
Ann Neurol 36:362-367, Haltia,M.,et al, 1994
Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991
Linkage of a Gene Causing Familial ALS to Chromosome 21 & Evidence of Genetic-Locus Heterogeneity
NEJM 324:1381-1384, 1430-14321991., Siddique,T.,et al, 1991
Location of Facioscapulohumeral Muscular Dystrophy Gene on Chromosome 4
Lancet 336:651-653, Wijmenga,C.,et al, 1990
Mapping of Acute (Type 1) Spinal Muscular Atrophy to Chromosome 5q12-q14
Lancet 336:271-273, Melki,J.,et al, 1990
Spinal Muscular Atrophies
Editorial, Lancet 336:280-2811990., , 1990
Phenotypic Heterogeneity of Spinal Muscular Atrophy Mapping to Chromosome 5q11. 2-12. 3 (SMA5q)
Neurol 40:1831-1836, Munsat,T.L.,et al, 1990
Dystrophin
Editorial, Lancet 2:429-4301988., , 1988
The Molecular Genetic Revolution, Its Impact on Clinical Neurology
Arch Neurol 45:1366-1376, Payne,C.S.&Roses,A.D., 1988
The Autosomal Dominant Form of"Pure"Familial Spastic Paraplegia:Clinical Findings & Linkage Analysis of a Pedigree
Neurol 37:910-915, Boustany,R.M.N.,et al, 1987