Clinicopathologic Conference, Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome
NEJM 385:165-175, Case 20-2021, 2021
Degenerative Diseases of the Nervous System, Machado-Joseph-Azorean Disease
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Clinical and Electrodignostic Features of X-Linked Recessive Bulbospinal Neuronopathy
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Dominant Spinopontine Atrophy
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Azorean Disease of the Nervous System
NEJM 296:1505, Romanul,F.C.A.,et al, 1977
Charcot-Marie-Tooth Disease Associated With"Essential Tremor"
Neurol Sciences 28:17-40, Salisachs,P.J., 1976
Slowly rogressive Cerebellar Ataxia in a 55-Year-Old Female Patient
JAMA Neurol 80:107-108, Bernaola,M.T.,et al, 2023
A 48-Year-Old Man With Spasticity and Progressive Ataxia
Neurol 101:e1747-e1752, Vizcarra,J.A.,et al, 2023
Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022
A 54-year-old man with Dyspnea and Muscle Weakness
Neurol 92:e1136-e1140, Chertcoff, A.,et al, 2019
A 42-year-old man with unilateral leg weakness
Neurol 90:e1085-e1090, Schneider, R.,et al, 2018
Degenerative Diseases of the Nervous System, Friedreich Ataxia
Adams & Victors Principles of Neurology, Chp 39, pg 1102, Ropper, A.H.,et al, 2014
Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
Brain 134:3326-3332, Garone, C.,et al, 2011
Clinicopath Conf., Multifocal Motor Neuropathy With Conduction Block
NEJM 357: 2707-2715, Case 40-2007, 2007
Hereditary Motor and Sensory Neuropathies
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Recessive Ataxia With Ocular Apraxia
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Charcot-Marie-Tooth Disease and Related Inherited Neuropathies
Medicine 75:233-250, Murakami,T.,et al, 1996
Adult-Onset Spinocerebellar Dysfunction Caused by a Mutation in the Gene for the a-Tocopherol-Transfer Protein
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Cerebral Involvement in McLeod Syndrome
Neurol 44:117-120, Danek,A.,et al, 1994
The Neurologic Syndrome of Vitamin E Deficiency:A Significant Cause of Ataxia
Neurol 43:2167-2169, Kayden,H.J., 1993
Thyrotoxic Periodic Paralysis in the US, Report of 7 Cases & Review of the Literature
Medicine 71:109-120, Ober,K.P., 1992
Acute Intermittent Porphyria
JAMA 264:1290-1293, 1315-13161990., Sack,G.H., 1990
Friedreich Ataxia
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Adult-Onset Spinocerebellar Syndrome with Idiopathic Vitamin E Deficiency
Ann Neurol 22:84-87, Yokota,T.,et al, 1987
Central Core Disease, Clinical Features in 13 Patients
Medicine 66:389-396, Shuaid,A.,et al, 1987
Neurological Manifestations in Xeroderma Pigmentosum
Ann Neurol 20:70-75, Mimaki,T.,et al, 1986
Ultrastructural, Neurological, & Glycosaminoglycan Abnormalities in Lowe's Syndrome
Ann Neurol 16:40-49, Wisniewski,K.E.,et al, 1984
Gerstmann-Straussler-Scheinker Disease with Coincidental Familial Onset
Ann Neurol 14:670-678, Hudson,A.J.,et al, 1983
Abetalipoproteinemia, Report of Two Cases & Review of Therapy
Arch Neurol 37:659-662, Illingworth,D.R.,et al, 1980
Familial Degeneration of the Basal Ganglia with Acanthocytosis:a Clinical Neuropathological, & Neurochemical Study
Ann Neurol 3:253, Bird,T.D.,et al, 1978
Cervical Myelographic Changes in Hypertrophic Interstitial Polyneuropathy
Ann Neurol 2:83, Hammerschlag,S.B.,et al, 1977
Paroxysmal Choreoathetosis as a Presenting Symptom in Idiopathic Hypoparathyroidism
JNNP 40:692, Soffer,D.,et al, 1977
Globoid cells, Glial nodules, & Peculiar Fibrillary Changes in the cerebro-hepato-renal Syndrome of Zellweger
Ann Neurol 2:473, deLeon,G.A.,et al, 1977
Nerve-Growth Factor in Familial Dysautonomia
NEJM 295:671, Montalcini,R.L., 1976
Neurotoxicity of Commonly Used Antineoplastic Agents
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Machado Disease-a Hereditary Ataxia in Portuguese Emigrants to Mass
Neurol 22:49, Nakano,K.K.,et al, 1972