Clinicopath Conf, Charcot-Marie-Tooth Disease Type 2, with Aides Pupil and a Mutation in MPZ Gene
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Charcot-Marie-Tooth Neuropathies:From Clinical Description to Molecular Genetics
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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
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Complex Ataxia
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A 54-year-old man with Dyspnea and Muscle Weakness
Neurol 92:e1136-e1140, Chertcoff, A.,et al, 2019
A 15-year-old Boy with Bilateral Wrist Pain in the Setting of Weight Loss
Neurol 92:486-492, Lau, K.H.V.,et al, 2019
GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy
Ann Neurol 86:962-968,809, Okubo, M.,et al, 2019
Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
Neurol 90:e625-e631, Set, K.K.,et al, 2018
A 42-year-old man with unilateral leg weakness
Neurol 90:e1085-e1090, Schneider, R.,et al, 2018
Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
NEJM 377:2376-2385, Case 38-2017, 2017
Chronic and Slowly Progressive Weakness of the Legs and Hands
BMJ 348:g459, Nightingale, H.,et al, 2014
Degenerative Diseases of the Nervous System, Friedreich Ataxia
Adams & Victors Principles of Neurology, Chp 39, pg 1102, Ropper, A.H.,et al, 2014
Degenerative Diseases of the Nervous System, Machado-Joseph-Azorean Disease
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Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
Brain 134:3326-3332, Garone, C.,et al, 2011
Hereditary Motor and Sensory Neuropathies
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Clinical and Subclinical Neurological Involvement in Children of Conjugal Multiple Sclerosis Patients
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Congenital Myasthenic Syndromes
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The Neurologic Syndrome of Vitamin E Deficiency:A Significant Cause of Ataxia
Neurol 43:2167-2169, Kayden,H.J., 1993
Dopa-Responsive Dystonia:Long-Term Treatment Response and Prognosis
Neurol 41:174-181, Nygaard,T.G.,et al, 1991
Diagnostic Tests for Choreoacanthocytosis
Neurol 41:1000-1006, Feinberg,T.E.,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
Friedreich Ataxia
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Nerve-Growth Factor in Familial Dysautonomia
NEJM 295:671, Montalcini,R.L., 1976