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Showing articles 0 to 44 of 44

Filter Applied: familial (Click to remove)

Extending the KCNQ2 encephalopathy Spectrum
Neurol 81:1697-1703, Weckhuysen, S.,et al, 2013

A 26-Year-Old Woman with Recurrent Pain, Weakness, and Atrophy in Bilateral Upper Limbs During Pregnancy and Puerperium
Neurol 100:631-637, Zeng,T.f.,et al, 2023

More Than a Little Unsteady
NEJM 387:e9, Kraft, A.W.,et al, 2022

A 59-Year-Old Man with Progressive Proximal Weakness Since Childhood
Neurol 97:958-963, Davalos, L.,et al, 2021

A 14-Year-Old Girl with Headache, Seizures, and Confusion
Neurol 92:e161-e167, Xiao, L.,et al, 2019

A 54-year-old man with Dyspnea and Muscle Weakness
Neurol 92:e1136-e1140, Chertcoff, A.,et al, 2019

Essential Tremor
NEJM 378:1802-1810, Haubenberger, D.,et al, 2018

Chronic and Slowly Progressive Weakness of the Legs and Hands
BMJ 348:g459, Nightingale, H.,et al, 2014

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

CNS Involvement at the Onset of Primary Hemophagocytic Lymphohistiocytosis
Neurol 78:1150-1156, Deiva,K.,et al, 2012

MRI and EEG as long-term seizure outcome predictors in familial mesial temporal lobe epilepsy
Neurol 79:2349-2354, Morita, M.,et al, 2012

Clinicopath Conf, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)
NEJM 360:1656-1665, Case 12-2009, 2009

Seizures on Hearing the Alarm Clock
Lancet 370:2172, Vollmar,C.,et al, 2007

Clinicopath Conf, Charcot-Marie-Tooth Disease Type 2, with Aides Pupil and a Mutation in MPZ Gene
NEJM 354:2584-2592, Case 18-2006, 2006

The Occurence of Guillain-Barre Syndrome Within Families
Neurol 63:1747-1750, Geleijns,K.,et al, 2004

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

Cardiac Dysfunction in Neuromuscular Diseases
The Neurologist 6:67-82, Pourmand,R., 2000

Distribution of Cranial MRI Abnormalities in Patients with Symptomatic and Subclinical CADASIL
BJR 73:256-265, Coulthard, A.,et al, 2000

Distal Hereditary Upper Limb Muscular Atrophy
JNNP 64:217-220, Gross,D.W.,et al, 1998

Creutzfeldt-Jakob Disease and Related Transmissible Spongiform Encephalopathies
NEJM 339:1994-2004, Johnson,R.T. & Gibbs,Jr.,C.J., 1998

Clinicopath Conf,Syndrome of Mitochondrial Encephalopathy,Lactic Acidosis,and Stroke-Like Episodes (MELAS),Case 39-1998
NEJM 339:1914-1923, , 1998

Gene Locus for Autosomal Recessive Distal Myopathy with Rimmed Vacuoles Maps to Chromosome 9
Ann Neurol 41:432-437, Ikeuchi,T.,et al, 1997

Clinical Variability in Adult-Onset Acid Maltase Deficiency:Report of Affected Sibs and Review of Literature
Medicine 74:131-135, Felice,K.J.,et al, 1995

Familial Hemiplegic Migraine and Autosomal Dominant Arteriopathy with Leukoencephalopathy (CADASIL)
Ann Neurol 38:817-824, Hutchinson,M.,et al, 1995

Monomelic Amyotrophy
Muscle & Nerve 17:1129-1134994., Donofrio,P.D., 1994

Migraine Madness:Recurrent Psychosis after Migraine
JNNP 56:416-418, Fuller,G.N.,et al, 1993

Tibial Muscular Dystrophy
Arch Neurol 50:604-608, Udd,B.,et al, 1993

Werdnig-Hoffman Disease & Chronic Distal Spinal Muscular Atrophy with Apparent Autosomal Dom Inherit
Ann Neurol 32:404-407, Boylan,K.B.&Cornblath,D.R., 1992

Juvenile Myoclonic Epilepsy, Underdiagnosed and Treatment May Have to be Life Long
BMJ 305:4-5, Timmings,P.L.&Richens,A., 1992

Familial Rectal Pain:A Type of Reflex Epilepsy?
Ann Neurol 32:824-826, Schubert,R.&Cracco,J.B., 1992

Familial Creutzfeldt-Jakob Disease (Codon 200 Mutation) with Supranuclear Palsy
Bertoni. J. M. , et al, JAMA 268:2413-2415., , 1992

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

Delayed Diagnosis of Juvenile Myoclonic Epilepsy
JNNP 55:497-499, Grunewald,R.A.,et al, 1992

Occurrence of MS-Like Illness in Women Who Have a Leber's Hereditary Optic Neuropathy Mitochondrial DNA Mutation
Brain 115:979-989, Harding,A.E.,et al, 1992

Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991

Welander's Distal Myopathy:Clinical Neurophysiol & Muscle Biopsy Obser in Young & Middle Aged Adults with Early Symptoms
JNNP 54:494-498, Borg,K., 1991

Electroencephalography Laboratory Diagnosis of Prolonged QT Interval
Ann Neurol 28:387-390, Gospe,S.M.&Gabor,A.J., 1990

Familial Creutzfeldt-Jakob Disease without Periodic EEG Activity
Ann Neurol 28:585-588, Tietjen,G.E.&Drury,I., 1990

Hereditary Long Q-T Syndrome Presenting as Epilepsy:Electroencephalography Laboratory Diagnosis
Ann Neurol 25:514-516, Gospe,S.M.&Choy,M., 1989

Paroxysmal Cerebellar Ataxia
Aust NZ J Med 19:113-117, Feeney,G.F.&Boyle,R.S., 1989

Familial Hemiplegic Migraine:EEG & CT Scan Study of Two Cases
Ann Neurol 10:392-295, Gastaut,J.L.,et al, 1981

Familial Paroxysmal Dystonic Choreoathetosis & its Differentiation From Related Syndromes
Ann Neurol 2:285, Lance,J.W., 1977

The Facioscapulohumeral Synd, in Clinical Studies in Myology, Amsterdam, Excerpta Medica
p498-501, VanWijngaarden,G.K.&Bethlem,J., 1973

Polyneroupathies of Undetermined Cause
Acta Neurol Scand (Supp) :5970., Prineas,J., 1970



Showing articles 0 to 44 of 44