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Showing articles 0 to 25 of 25

Filter Applied: chromosomal abnormality (Click to remove)

Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
Brain 129:1674-1684, Horvath, R.,et al, 2006

Diagnosis of Merosin (Laminin-2) Deficient Congenital Muscular Dystrophy by Skin Biopsy
Lancet 347:582-584, Sewry,C.A.,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

Brief Report:Reverse Mutation in Myotonic Dystrophy
NEJM 328:476-480, Brunner,H.G.,et al, 1993

Genetics and Physiology of the Myotonic Muscle Disorders
NEJM 328:482-489, Ptacek,L.J.,et al, 1993

Unstable DNA Sequence in Myotonic Dystrophy
Lancet 339:1125-1128, Harley,H.G.,et al, 1992

Location of Facioscapulohumeral Muscular Dystrophy Gene on Chromosome 4
Lancet 336:651-653, Wijmenga,C.,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

Genetic Linkage in Neurologic Diseases
Editorial, NEJM 316:1018-10201987., Martin,J.B., 1987

Prenatal Genetic Diagnosis in 3000 Amniocenteses
NEJM 300:157-163, Golbus,M.S.,et al, 1979

Spinal Muscular Atrophy A Timely Review
Arch Neurol 68:979-984, Kolb, S.J.,et al, 2011

Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
NEJM 348:33-40, Hayflick,S.J.,et al, 2003

Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
NEJM 347:672-680, Case 27-2002, 2002

Amyotrophic Lateral Sclerosis
NEJM 344:1688-1700, Rowland,L.P. & Shneider,N.A., 2001

Linkage of Familial Amyotrophic Lateral Sclerosis with Frontotemporal Dementia to Chromosome 9q21-q22
JAMA 284:1664-1669, Hosler,B.A.,et al, 2000

From Enigmatic to Problematic:The New Molecular Genetics of Childhood Spinal Muscular Atrophy
Neurol 46:335-340, Crawford,T.O., 1996

Natural History in Proximal Spinal Muscular Atrophy
Arch Neurol 52:518-523, Zerres,K.&Rudnik-Schoneborn,R., 1995

Cockayne Syndrome: Review of 140 Cases
Am J Med Genet 42:68-84, Nance,M.A. &Berry,S.A., 1992

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

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

Corneal Opacification in Infancy
MCV Quart 8:230, Ching,F., 1972



Showing articles 0 to 25 of 25