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Showing articles 0 to 22 of 22

Filter Applied: genetic neurologic disorders (Click to remove)

A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
Neurol 102:e209358, Barbosa,A.R.,et al, 2024

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

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 45-year-old man with Weakness and Myalgia after Orthopedic Surgery
Neurol 88:e185-e189, Vazquez do Campo, R.,et al, 2017

Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016

Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
NEJM 370:911-920, Zhou, Q.,et al, 2014

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

Aicardi-Gouti�res Syndrome: Neuroradiologic Findings and Follow-up
AJNR 30:1971-1976, Uggetti,C.,et al, 2009

Aicardi-Gouti�res Syndrome
Br Med Bull 89:183-201, Orcesi, S.,et al, 2009

Malignant Hyperthermia, Update on Susceptibility Testing
JAMA 293:2918-2924,2958, Litman,R.S.&Rosenberg,H., 2005

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

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

The Nondystrophic Myotonias
In Myology, McGraw-Hill, 2nd Ed, Ch49, p1291-13024., Rudel,R.,et al, 1994

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

Detecting Susceptibility to Malignant Hyperthermia
BMJ 304:791-792, Ellis,F.R., 1992

Clinicopath Conf
Mastoiditis with Right Transverse-Sinus and Sigmoid-Sinus Thrombosis, Case Record 20-1988, NEJM 318:, 321328,1988., 1988

Central Nervous System Infections Associated with Hereditary Hemorrhagic Telangiectasia
Am J Med 77:86-92, Press,O.L.W.,et al, 1984

The Malignant Hyperthermia Syndrome
NEJM 309:416-418, Nelson,T.E.,et al, 1983

Periodic Meningitis & Familial Mediterranean Fever
Arch Int Med 142:378-379, Vilaseca,J.,et al, 1982

Pathogenesis of Pseudotumor Cerebri Syndromes
Neurol 31:877-880, Donaldson,J.O., 1981

Malignant Hyperthermia & Central Core Disease in a Child with Congenital Dislocating Hips
Arch Neurol 35:189, Eng,G.D.,et al, 1978

Pathology of Malignant Hyperpyrexia
BMJ Editorial 249, 1973, Feb., , 1973



Showing articles 0 to 22 of 22