Charcot-Marie-Tooth Disease Type 1A:Association with a Spontaneous Point Mutation in the PMP22 Gene
NEJM 329:96-101, Roa,B.B.,et al, 1993
Giant Axonal Neuropathy:Progressive Clinical and Radiologic CNS Involvement
Neurol 42:2220-2221, Richen,P.&Tandan,R., 1992
Duplication of Part of Chromosome 17 is Commonly Associated with HMSN Type I (Charcot-Marie-Tooth Disease Type 1)
Ann Neurol 31:570-572, Hallam,P.J.,et al, 1992
De-Novo Mutation in Hereditary Motor and Sensory Neuropathy Type I
Lancet 339:1081-1082, Hoogendijk,J.E.,et al, 1992
Brain MRI and Electrophysiologic Abnormalities in Preclinical and Clinical Adrenomyeloneuropathy
Neurol 42:85-91, Aubourg,P.,et al, 1992
MR Imaging of the Spinal Cord in 23 Subjects with ALD-AMN Complex
AJR 158:413-416, Snyder,R.D.,et al, 1992
Cerebromeningeal Haemophagocytic Lymphohistiocytosis
Lancet 239:104-107, Henter,J.&Elinder,G., 1992
Corticosteroid-Responsive Dominantly Inherited Neuropathy in Childhood
Neurol 41:437-439, Bird,S.J.&Sladky,J.T., 1991
Diagnostic Tests for Choreoacanthocytosis
Neurol 41:1000-1006, Feinberg,T.E.,et al, 1991
Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991
Classification and Treatment of Tremor
JAMA 266:1115-1117, Hallett,M., 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
Globoid Cell Leukodystrophy:A Family with Both Late-Infantile and Adult Type
Neurol 41:1382-1384, Verdru,P.,et al, 1991
Polyneuropathy, Ophthalmoplegia, Leukoencephalopathy, and Intestinal Pseudo-Obstruction:POLIP Syndrome
Ann Neurol 28:349-360, Simon,L.T.,et al, 1990
Genetic Linkage of Hereditary Motor & SensoryNeuro Type I (Charcot-Marie-Tooth Disease) to Chrom 1 & 17
Neurol 40:1450-1453, Defesche,J.C.,et al, 1990
Tangier Disease in a Black Patient:An Unusual Clinical Presentation
Am J Med 89:105-108, Lo,W.D.,et al, 1990
Hereditary Motor and Sensory Neuropathies and Hereditary Spastic Paraplegia:A Magnetic Stimulation Study
Ann Neurol 28:43-49, Claus,D.,et al, 1990
Familial Multiple Symmetric Lipomatosis with Peripheral Neuropathy
Neurol 40:1246-1250, Chalk,C.H.,et al, 1990
Hyperostosis Cranialis Interna
NEJM 322:450-463, Manni,J.J.,et al, 1990
Clinicopath Conf
Familial Visceral Myopathy (Oculogastrointestinal Muscular Dystrophy) , Case 12-1990, NEJM 322:829-8, 1, 19, 1990
Neurologic Crises in Hereditary Tyrosinemia
NEJM 322:432-437, Mitchell,G.,et al, 1990
Peripheral Neuropathy in Amyotrophic Chorea-Acanthocytosis
Ann Neurol 26:583-587, Vista,G.,et al, 1989
Hereditary Sensory Neuropathy with Deafness:A Familial Multisystem Atrophy
Neurol 39:244-248, Horoupian,D.S., 1989
Ethanol and the Nervous System
NEJM 321:442-454, Charness,M.E.,et al, 1989
Respiratory Muscle Weakness in Charcot-Marie-Tooth Disease, A Field Study
Arch Int med 149:1389-1391, Nathanson,B.N.,et al, 1989
Hereditary Motor & Sensory Neuropathy with Optic Atrophy, Ultrastructural and Morphometic Observations
Arch Neurol 46:973-977, Sommer,C.&Schroder,J.M., 1989
Compression Syndromes Due to Hypertrophic Nerve Roots in Hereditary Motor Sensory Neuropathy Type I
Neurol 39:1173-1177, Rosen,S.A.,et al, 1989
Molecular Genetics of Amyloid Neuropathy in Europe
Lancet 1:524-526, Holt,I.J.,et al, 1989
Refsum Disease
In Rowland's Merritt's Textbk of Neurology, Lea & Febiger, Phila, 8thEd, p. 509, Menkes,J.H., 1989
REcurrent Familial Brachial Plexus Palsies as the ONly Clinical Expression of'Tomaculous'Neuropathy
Eur Neurol 29:61-66, Martinelli,P.,et al, 1989
Follow-up and Diagnostic Reappraisal of 75 Patients with Leber's Congenital Amaurosis
Am J Ophthalmol 107:624-631, Lambert,S.R.,et al, 1989
Retinitis Pigmentosa
Surv Ophthalmol 33:137-177, Pagon,R.A., 1988
Familial Oculoleptomeningeal Amyloidosis, Report of a New Family with Unusual Features
Arch Neurol 45:1118-1122, Uitti,R.J.,et al, 1988
Detection of HTLV-I DNA & Antigen in Spinal Fluid & Blood of Pts with Chronic Progressive Myelopathy
NEJM 318:1141-1147, 11951988., Bhagavati,S.,et al, 1988
Respiratory Muscle Dysfunction in Hereditary Motor Sensory Neuropathy, Type I
Arch Int Med 148:1739-1740, Eichacker,P.Q.,et al, 1988
MR Imaging of a Group I Case of Hallervorden-Spatz Disease
J Comput Assist Tomogr 12:851-853, Mutoh,K.,et al, 1988
Ocular Complications of Tangier Disease
Am J Med 83:991-994, Pressley,T.A.,et al, 1987
Hereditary Motor & Sensory Neuropathy, X-Linked:A Half Century Follow-Up
Neurol 37:1460-1465, Rozear,M.P.,et al, 1987
Hereditary Neuropathy with Liability to Pressure Palsies
In Handbk of Clin Neurol, Elsevier Sci Publ Co, NY 51:551-562987., Cherry,S.&Mayer,R.F., 1987
Familial Long Thoracic Nerve Palsy:A Manifestation of Brachial Plexus Neuropathy
Neurol 36:1251-1253, Phillips,L.H., 1986
Familial Amyloidosis with Cranial Neuropathy & Corneal Lattice Dystrophy
Neurol 36:432-435, Darras,B.T.,et al, 1986
Chronic Demyelinating Peripheral Neuropathy in Cerebrotendinous Xanthomatosis
Ann Neurol 20:89-91, Argov,Z.,et al, 1986
Neurological Manifestations in Xeroderma Pigmentosum
Ann Neurol 20:70-75, Mimaki,T.,et al, 1986
Tangier Disease (Hypo-a-Lipoproteinemia)
Textbook of Child Neurology, 3rd Ed. , Phila, Lea & Febiger, Ch 1, p 86, Menkes,J.H., 1985
Peripheral Neuropathy in Cerebrotendinous Xanthomatosis
Arch Neurol 42:1008-1010, Katz,D.A.,et al, 1985
Clin. Path. Conference
Coproporphyria with Polyneuropathy, Case Record 39-1984, NEJM 311:839-847984., , 1984
Long-Term Treatment of Cerebrotendinous Xanthomatosis with Chenodeoxycholic Acid
NEJM 311:1649-1652, Berginer,V.M.,et al, 1984
Clinicopathological Conference Metachromatic Leukodystrophy (juvenile type)
Case 7-1984, NEJM 310:445-4551984., , 1984
Adrenoleukodystrophy:Clinical & Biochemical Manifestations in Carriers
Neurol 34:798-801, O'Neill,B.P.,et al, 1984
Myeloneuropathy & Macrocytosis Associated with Nitrous Oxide Abuse
Arch Neurol 40:416-418, Bianco,G.,et al, 1983