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Filter Applied: genetic neurologic disorders (Click to remove)

Clinicopathologic Conference, Facioscapulohumeral Muscular Dystrophy
NEJM 388:2379-2387, Case 19-2023, 2023

Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
UptoDate 2022 Jan, Darras, B.T., 2022

Duchenne Muscular Dystrophy
BMJ 368:L7012, Fox, H.,et al, 2020

The Limbic-Girdle Muscular Dystrophies
Neuro Clin 32:729-749, Wicklund, M.P. and Kissel, J.T., 2014

Impact of Presymptomatic Genetic Testing for Hereditary Ataxia and Neuromuscular Disorders
Arch Neurol 61:875-880, Smith,C.O.,et al, 2004

Myotonic Dystrophy
In Myology, Engel & Franzini-Armstrong, McGraw-Hill, Inc, New York V2, Ch 43, P1192, Harper,P.S.&Rudel,R., 1994

Molecular Genetics in Neurology
Ann Neurol 34:757-773, Martin,J.B., 1993

Muscular Dystrophies
Lancet 394:2025-2038, Mercuri, E.,et al, 2019

Heart Transplantation in a Patient with Myotonic Dystrophy Type 1 and End-Stage Dilated Cardiomyopathy: A Short Term Follow-up
Acta Myologica 37:267-271, Papa, A.A.,et al, 2018

A 52-year-old Woman with Progressive Proximal Weakness
Neurol 83:e106-e109, Enduri, S.,et al, 2014

Diagnosis and New Treatments in Muscular Dystrophies
JNNP 80:706-714, Manzur,A.Y. &Muntoni,F., 2009

The Floppy Infant: Evaluation of Hypotonia
Pediatrics in Review 30:e66-e76, Peredo, D. & Hannibal M., 2009

Clinical and Genetic Aspects of Distal Myopathies
Muscle Nerve 24:1440-1450, Saperstein,D.S.,et al, 2001

Mutations in the Sarcoglycan Genes in Patients with Myopathy
NEJM 336:618-624, Duggan,D.J.,et al, 1997

Brief Report:Deficiency of a Dystrophin-Assoc Glycoprotein (Adhalin) in Pt with Muscular Dystrophy & Cardiomyopathy
NEJM 334:362-366, Fadic,R.,et al, 1996

Proximal Myotonic Myopathy, Clin Features of Disorder Similar to Myotonic Dystrophy
Arch Neurol 52:25-31, Ricker,K.,et al, 1995

The Prevention of Neurogenetic Disease
Arch Neurol 52:356-362, 3451995., Rosenberg,R.N.&Iannaccone,S.T., 1995

Trinucleotide Repeat Expansion in Neurological Disease
Ann Neurol 36:814-822, LaSpada,A.R.,et al, 1994

Clinicopath Conf
Emery-Dreifus Muscular Dystrophy, NEJM 327:548-5571992., , 1992

Familial Adult-Onset Muscular Dystrophy with Leukoencephalopathy
Ann Neurol 32:577-580, vanEngelen,B.G.M.,et al, 1992

Autosomal Recessive Distal Dystrophy
Neurol 41:1365-1370, Barohn,R.J.,et al, 1991

Congenital Muscular Dystrophy
J Pediatr 115:214-221, Leyten,Q.H.,et al, 1989

DNA Restriction Fragment Length Polymorphisms in Diff Dx of Genetic Disease:Appl in Neuromusc Dis
Hum Genet 82:55-58, Defesche,J.C.,et al, 1989

Early-Onset Benign Autosomal Dominant Limb-Girdle with Contractures (Bethlem Myopathy)
Neurol 38:573-580, Mohire,M.D.,et al, 1988

Characterization of Dystrophin in Muscle-Biopsy Spec from Pts with Duchenne's or Becker's Muscular Dystrophy
NEJM 318:1363-1368, 13921988., Hoffman,E.P.,et al, 1988

The Molecular Genetic Revolution, Its Impact on Clinical Neurology
Arch Neurol 45:1366-1376, Payne,C.S.&Roses,A.D., 1988

Emery-Dreifuss Muscular Dystrophy:Disease Spectrum and Differential Diagnosis
Neuropediatrics 19:62-71, Voit,T.,et al, 1988

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

Prenatal Diagnosis & Detection of Carriers with DNA Probes in Duchenne's Muscular Dystrophy
NEJM 316:985-993, 1018-10201987., Darras,B.T.,et al, 1987

Adult-Onset Autosomal Dominant Limb-Girdle Muscular Dystrophy
Ann Neurol 20:240-248, Chutkow,J.G.,et al, 1986

Facioscapulohumeral Dystrophy, in Myology, Basic & Clinical
McGraw-Hill Book Co, NY, p1251986., Munsat,T.L., 1986

Autosomal Recessive Distal Muscular Dystrophy:A Comparative Study with Distal Myopathy with Rimmed Vacuole Formation
Ann Neurol 17:51-59, Nonaka,I.,et al, 1985

Recognising & Preventing Duchenne Muscular Dystrophy
BMJ 287:1083-1084, Firth,M.A.,et al, 1983

An Autosomal-dominant Dystrophy with Humeropelvic Distribution & Cardiomyopathy
Neurol 32:1399-1401, Fenichel,G.M.,et al, 1982

Myotonic Dystrophy
In Harrison's Principles of Internal Medicine, 9th Ed, McGraw-Hill Book Co, NY 206180., Adams,R.D.,et al, 1980

Quadriceps Myopathy in Two Brothers
Rhode Island Med J 62:125, Finelli,P.F., 1979

Emery-Dreifuss Muscular Dystrophy
Ann Neurol 5:111-117, Rowland,L.P.,et al, 1979

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

Muscular Dystrophy in Six Young Girls
Neurol 29:1486-1491, Hazama,R.,et al, 1979

Abnormal Iris Vasculature in Myotonic Dystrophy
Arch Neurol 35:224, Stern,L.Z.,et al, 1978

Systemic Membrane Defect in the Proximal Muscular Dystrophies
NEJM 299:841-846, Pickard,N.A.,et al, 1978

The Spectrum of Mild X-Linked Recessive Muscular Dystrophy
Arch Neurol 34:408, Ringer,S.P.,et al, 1977

Prenatal Diagnosis of Duchenne's Muscular Dystrophy
NEJM 297:968, Mahoney,M.J.,et al, 1977

X-linked Muscular Dystrophy
Ann Neurol 2:414, Furukawa,T.,et al, 1977

Cardiac Features of Unusual X-linked Humeroperoneal Neuromuscular Disease
et al NEJM 293:1017, Waters,D.D., 1975

Ocular Myopathy
Arch Neurol 20:1, Magora,A.,et al, 1969

Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022

Imaging Patterns Characterizing Mitochondrial Leukodystrophies
AJNR 42:1334-1340, Roosendaal, S.D.,et al, 2021

Personality Changes, Executive Dysfunction, and Motor and Memory Impairment
JAMA Neurol 74:245-246, Lopez Chiriboga, A.S.,et al, 2017



Showing articles 0 to 50 of 243 Next >>