A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,et al, 2024
Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
Neurol 90:e625-e631, Set, K.K.,et al, 2018
Central Core Disease, Clinical Features in 13 Patients
Medicine 66:389-396, Shuaid,A.,et al, 1987
Parkinson's Disease
In Handbk of Clinical Neurology, Vinken, P. J. & Bruyn, G. W. , Ed, North-Holland Publ Co, Amsterdam, 6:173, 1968. Selby, G., 1968
Clinical Reasoning: Cardioembolic Stroke in a 23-year-old Man with Elbow Contracture
Neurol 90:e172-e176, Roy, B. & Raynor, E., 2018
Disability in adults with arthrogryposis is severe, partly invisible, and varies by genotype
Neurol 90:e1596-e1604, Dai, S.,et al, 2018
A 49-Year-Old Man with Contractures, Weakness, and Cardiac Arrhythmia
Neurol 72:2036-2043, Kissel,J.T.,et al, 2009
Congenital Muscular Dystrophy
eMedicine (Jan), Lopate,G., 2007
Congenital Muscular Dystrophy:Clinical & Pathologic Study of 50 Pts with Classical (Occidental) Merosin-Positive Form
Neurol 46:815-818, Kobayashi,O.,et al, 1996
Congenital Muscular Dystrophy Syndromes Distinguished by Alkaline and Acid Phosphatase, Merosin, & Dystrophin Staining
Neurol 46:810-814, Connolly,A.M.,et al, 1996
The Synd of Autosomal Recessive Pontocerbellar Hypoplasia, Microcephaly, & Extrapyr Dyskinesia (Pontocereb Hypopl Type 2)
Neurol 45:311-317, Barth,P.G.,et al, 1995
Peripheral Nerve Injury and Causalgia Secondary to Routine Venipuncture
Neurol 44:962-964, Horowitz,S.H., 1994
Clinicopath Conf
Emery-Dreifus Muscular Dystrophy, NEJM 327:548-5571992., , 1992
Cockayne Syndrome: Review of 140 Cases
Am J Med Genet 42:68-84, Nance,M.A. &Berry,S.A., 1992
Polymyositis, Dermatomyositis, and Inclusion-Body Myositis
NEJM 325:1487-1498, Dalakas,M.C., 1991
Fucosidosis Revisited:A Review of 77 Patients
Am J Med Genet 38:111-131, Willems,P.J.,et al, 1991
Improved Diagnosis of Becker Muscular Dystrophy by Dystrophin Testing
Neurol 39:1011-1017, Hoffman,E.P.,et al, 1989
Congenital Muscular Dystrophy
J Pediatr 115:214-221, Leyten,Q.H.,et al, 1989
Rigid Spine Syndrome and Rigid Spine Sign in Myopathies
J Child Neurol 4:273-282, Merlini,L.,et al, 1989
Autoantibodies to Glutamic Acid Decarboxylase in Pt with Stiff-Man Syndr, Epilepsy & Type I Diabetes Mellitus
NEJM 318:1012-1020, Solimena,M.,et al, 1988
Early-Onset Benign Autosomal Dominant Limb-Girdle with Contractures (Bethlem Myopathy)
Neurol 38:573-580, Mohire,M.D.,et al, 1988
Emery-Dreifuss Muscular Dystrophy:Disease Spectrum and Differential Diagnosis
Neuropediatrics 19:62-71, Voit,T.,et al, 1988
Clinical Epidemology of Toxic-Oil Syndrome
NEJM 309:1408-1414, Kilbourne,E.M.,et al, 1983
Congenital Myotonic Dystrophy
Arch Neurol 37:693-696, Argov,Z.,et al, 1980
Emery-Dreifuss Muscular Dystrophy
Ann Neurol 5:111-117, Rowland,L.P.,et al, 1979
Familial Neuromuscular Disease with Type 1 Fiber Hypoplasia, Tubular Aggregates, Cardiomyopathy, & Myasthenic Features
Neurol 28:1135-1140, Dobkin,B.H.,et al, 1978
The Spectrum of Mild X-Linked Recessive Muscular Dystrophy
Arch Neurol 34:408, Ringer,S.P.,et al, 1977