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Showing articles 0 to 39 of 39

Filter Applied: genetic neurologic disorders (Click to remove)

Clinical Syndromes of Myasthenia in Infancy & Childhood
Arch Neurol 35:97, Fenichel,G.M., 1978

A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002

Familial Autoimmune Myasthenia Gravis
Neurol 44:551-554, Bergoffen,J.,et al, 1994

Genetic Factors in Myasthenia Gravis:A Family Study
Neurol 38:38-42, Kerzin-Storrar,L.,et al, 1988

Myasthenia Gravis in Identical Twins
Neurol 36:78-80, Murphy,J.&Murphy,S.F., 1986

Familial Neuromuscular Disease with Type 1 Fiber Hypoplasia, Tubular Aggregates, Cardiomyopathy, & Myasthenic Features
Neurol 28:1135-1140, Dobkin,B.H.,et al, 1978

Cause of Weakness in Myasthenia Gravis
NEJM 294:722, Grob,D., 1976

Epidemiology of Motor-Neuron Diseases
NEJM 288:1047, Bobwick,A.R.,et al, 1973

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

A 22-Year-Old Man with Progressive Bilateral Visual Loss
Neurol 94:625-630, Yang, S.L.,et al, 2020

Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
NEJM 377:2376-2385, Case 38-2017, 2017

Huntington Disease: Clinical Features and Diagnosis
UptoDate Dec 2017, Oksana Suchowersky, 2017

MRI Findings of Biotin-Responsive Basal Ganglia Disease Before and After Treatment
Neurol 86:e71-e72, Saeedan, M.B. & Dogar, M.A., 2016

Huntingtons Disease
BMJ 341:34-40, Novak,M.J. &Tabrizi,S.J., 2010

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

A Worldwide Study of the Huntington's Disease Mutation, The Sensitivity & Specificity of Measuring CAG Repeats
NEJM 330:1401-1406, 14501994., Kremer,B.,et al, 1994

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

Clinical Consequences of Isolating the Gene for Huntington's Disease
BMJ 307:397-398, Harper,P.S., 1993

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

Clinicopath Conf
Huntington's Diseae, Case2-1992, NEJM 326:117-125992., , 1992

Localization of Idiopathic Generalized Epilepsy on Chromosome 6p in Families of Juvenile Myoclonic epilepsy patients
Neurol 41:1651-1655, Durner,M.,et al, 1991

Problems in Genetic Prediction for Huntington's Disease
Lancet 2:601-603, Morris,M.J.,et al, 1989

Uptake of Presymptomatic Predictive Testing for Huntington's Disease
Lancet 2:603-605, Craufurd,D.,et al, 1989

Dopa Responsive Dystonia:A Treatable Condition Misdiagnosed as Cerebral Palsy
BMJ 298:1019-1020, Boyd,K.&Patterson,V., 1989

Juvenile Myoclonic Epilepsy:An Autosomal Recessive Disease
Ann Neurol 25:440-443, Panayiotopoulos,C.P.&Obeid,T., 1989

Predictive Testing for Huntington's Disease with Use of a Linked DNA Marker
NEJM 318:535-542, Meissen,G.J.,et al, 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

The Combined Use of Positron Emission Tomography & DNA Polymorphisms for Preclinical Detection of Huntington's Disease
Neurol 37:1441-1447, Hayden,M.R.,et al, 1987

Hereditary Dystonia-Parkinsonism Syndrome of Juvenile Onset
Neurol 36:1424-1428, Nygaard,T.C.&Duvoisin,R.C., 1986

Clinicopathological Conference Metachromatic Leukodystrophy (juvenile type)
Case 7-1984, NEJM 310:445-4551984., , 1984

Parental Transmission in Huntington's Disease
Lancet 1:1100-1102, Went,L.N.,et al, 1984

Genetic Testing in Huntington's Disease
Ann Neurol 16:511-513, Koller,W.C.,et al, 1984

Huntington's Chorea:Neglected Opportunities for Preventive Medicine
Lancet 1:634-636, Martindale,B.,et al, 1983

Juvenile Metachromatic Leukodystrophy
Arch Neurol 37:42-46, Haltia,T.,et al, 1980

Huntington's Disease:Abnormality of Lymphocyte Capping
Ann Neurol 6:447-450, Noronha,A.B.C.,et al, 1979

Juvenile Neuroaxonal Dystrophy:Clinical, Electrophysiological, & Neuropathological Features
Ann Neurol 3:419, Dorfman,L.J.,et al, 1978

Juvenile Parkinsonism Treated with Levodopa
Arch Neurol 34:244, Sachdev,K.K.,et al, 1977

Huntington's Chorea
Bruyn, G. W. In Vinken & Bruyn, Handbk of Clin Neurol, North-Holland Publ Co, Amsterdam, 6:298, , 1968



Showing articles 0 to 39 of 39