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Showing articles 0 to 43 of 43

Filter Applied: genetic neurologic disorders (Click to remove)

Essential Tremor:Clinical Correlates in 350 Patients
Neurol 41:234-238, Lou,J.&Jankovic,J., 1991

Fragile X-Associated Tremor or Ataxia Syndrome in a Patient with Difficulty Walking, Falls, a Tremor, and Erectile Dysfunction
Lancet 400:1144, Sabino de Oliveira, D.,et al, 2022

Clinicopathologic Conference, Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome
NEJM 385:165-175, Case 20-2021, 2021

Hypotonia and Delayed Teeth Eruption in a 2-Year-Old Girl
Neurol 97:875-878, Dinov, D.,et al, 2021

Complex Ataxia
Neurol 95:136-141, Abkur, T.,et al, 2020

A 58-year-old Man with Hand Tremor and Episodes of Neck Pain
Neurol 93:557-561, Urso, D.,et al, 2019

Wilson Disease
NIDDK Oct2018, , 2018

Gradually Progressive Spastic Ataxia in a Young Man Steadily Unsteady
JAMA Neurol 74:238-241, Dubey, D.,et al, 2017

A Neonate with Micrognathia and Hypotonia
Neurol 86:e80-e84, Vawter-Lee, M.M.,et al, 2016

Degenerative Diseases of the Nervous System, Machado-Joseph-Azorean Disease
Adams & Victors Principles of Neurology, Chp 39, pg 1107, Ropper, A.H.,et al, 2014

The Autosomal Recessive Cerebellar Ataxias
NEJM 366:636-646, Anheim,M.,et al, 2012

Clinicopathologic Conference, Kufs Disease (Autosomal Dominant) Parry Type Neuronal Ceroid Lypofuscinosis
NEJM 364:1062-1074, Case 8-2011, 2011

Fragile X-Associated Tremor/Ataxia Syndrome: An Aging Face of the Fragile X Gene
Arch Neurol 65:19-25, Amiri,K.,et al, 2008

Dystonia
NEJM 355:818-829, Tarsy,D. &Simon,D.K., 2006

Fragile X Premutation Carriers: Characteristic MR Imaging Findings of Adult Male Patients with Progressive Cerebellar and Cognitive Dysfunction.
AJNR 23:1757-1766, Brunberg,J.A.,et al, 2002

SCA-12: Tremor with Cerebellar and Cortical Atrophy is Associated with a CAG Repeat Expansion
Neruol 56:299-303,287, O'Hearn,E.,et al, 2001

Diagnosis and Treatment of Wilson's Disease
Semin Neurol 19:261-270, Brewer,G.J.,et al, 1999

Parkinson's Disease
NEJM 339:1044-1053,1130-1143, Lang,A.E.&Lozano,A.M., 1998

Wilson Disease
Medicine 71:139-164, Brewer,G.J.&Yuzbasiyan-Gurkan,V., 1992

Wilson's Disease:Current Status
Am J Med 92:643-654, Yarze,J.C.,et al, 1992

Prenatal Diagnosis of Wilson's Disease by Analysis of DNA Polymorphism
NEJM 327:57, Cossu,P.,et al, 1992

Clinicopath Conf
Infantile Striatonigral Regeneration, with Cerebellar Degeneration, Familial, Case 30-1992, NEJM 327, 261-1992., 1992

Causal Heterogeneity in Isolated Lissencephaly
Neurol 42:1375-1388, Dobyns,W.B.,et al, 1992

Angelman Syndrome: Clinical Profile
J Child Neurol 7:270-280, Zori,R.T.,et al, 1992

Nystagmus of Pelizaeus-Merzbacher Disease
Arch Neurol 48:87-91, Trobe,J.D.,et al, 1991

Clinical and Electrodignostic Features of X-Linked Recessive Bulbospinal Neuronopathy
Neurol 41:823-828, Olney,R.K.,et al, 1991

Hallervorden-Spatz Syndrome and Brain Iron Metabolism
Arch Neurol 48:1285-1293, Swaiman,K.F., 1991

The Dystonias
BMJ 300:139-144, Marsden,C.D.&Quinn,N.P., 1990

Homing in on Wilson's Disease
Editorial, Lancet 1:822-8231989., , 1989

Clinical Assessment of 31 Patients with Wilson's Disease, Correlations with Struct. Changes on MRI
Arch Neurol 44:365-370, Starosta-Rubinstein,S.,et al, 1987

Fatal Familial Insomnia & Dysautonomia with Selective Degeneration of Thalamic Nuclei
NEJM 315:997-1003, Lugaresi,E.,et al, 1986

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

Wilson's Disease
BMJ 288:1180-1181, Parkes,D., 1984

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

An Autosomal Dominant Syndrome of Hemiplegic Migraine, Nystagmus, & Tremor
Ann Neurol 8:329-332, Zifkin,B.,et al, 1980

Marfan's Syndrome
NEJM 301:273, Barr,M., 1979

Diagnosis of Treatable Wilson's Disease
NEJM 298:1347, Cartwright,G.E., 1978

Dominant Spinopontine Atrophy
Arch Neurol 35:156, Pogacar,S.,et al, 1978

Azorean Disease of the Nervous System
NEJM 296:1505, Romanul,F.C.A.,et al, 1977

Reversible Cerebellocerebral Disorder in Primary Hemochromatosis
Arch Neurol 34:123, Singh,N.,et al, 1977

Familial Idiopathic Cerebral Calcifications
et al. , JNNP 40:280977., Boller,F., 1977

Familial Essential Myoclonus
Brain 93:131-138, Korten,J.J.,et al, 1977

Spastic Pseudosclerosis (Creutzfeldt-Jakob Dis) Van Rossum A. , In:Vinken, P. J.
Handbk of Clin Neurol Vol 6 North-Holland Publ. Amster 1968 Ch 28, p 726., Bruyn,G.W., 1968



Showing articles 0 to 43 of 43