Charcot-Marie-Tooth Disease and Related Inherited Neuropathies
Medicine 75:233-250, Murakami,T.,et al, 1996
Clin Electrophy & Molec Correl in 13 Families with Hered Neurop with Liabil to Press Palsies & Chromosome 17p11. 2 Deletion
Neurol 45:2018-2023, Gouider,R.,et al, 1995
Acute Anterior Interosseous Neuropathy in Pt with Hereditary Neuropathy with Liability to Press Palsies:Clin & EMG Study
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Charcot-Marie-Tooth Neuropathies:From Clinical Description to Molecular Genetics
Muscle & Nerve 18:267-275995., Ionasecu,V.V., 1995
Hered Neuralgic Amyotrophy & Hered Neuropathy with Liability to Pressure Palsies:Distinct Clin, Electrophy & Genetic Entities
Neurol 44:2250-2252, Gouider,R.,et al, 1994
Hereditary Neuralgic Amyotrophy & Hereditary Neuropathy with Liability to Pressure Palsies:Distinct Genetic Dis
Neurol 44:2253-2257, Chance,P.F.,et al, 1994
DNA Analysis in Finnish Patients with Hereditary Neuropathy with Liability to Pressure Palsies (HNPP)
JNNP 57:1260-1262, Silander,K.,et al, 1994
Liver Transplantation as a Treatment for Familial Amyloidotic Polyneuropathy
Ann Int Med 120:133-134, Skinner,M.,et al, 1994
Clinical Genetics in Neurological Disease
JNNP 57:7-15, MacMillan,J.C.&Harper,P.S., 1994
Inherited Primary Peripheral Neuropathies
JAMA 270:2326, 23301993., Lupski,J.R.,et al, 1993
Hereditary Motor-Sensory Neuropathy (Charcot-Marie-Tooth Disease) with Nerve Deafness:A New Variant
J Pediatr 123:431-434, Hamiel,O.P.,et al, 1993
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
Erythromelalgia:Association with Hereditary Sensory Neuropathy and Response to Amitriptyline
Neurol 43:621-622, Herskovitz,S.,et al, 1993
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
Corticosteroid-Responsive Dominantly Inherited Neuropathy in Childhood
Neurol 41:437-439, Bird,S.J.&Sladky,J.T., 1991
Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991
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
Refsum Disease
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Hereditary Sensory Neuropathy with Deafness:A Familial Multisystem Atrophy
Neurol 39:244-248, Horoupian,D.S., 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
Friedreich Ataxia
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REcurrent Familial Brachial Plexus Palsies as the ONly Clinical Expression of'Tomaculous'Neuropathy
Eur Neurol 29:61-66, Martinelli,P.,et al, 1989
Familial Oculoleptomeningeal Amyloidosis, Report of a New Family with Unusual Features
Arch Neurol 45:1118-1122, Uitti,R.J.,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
Retinitis Pigmentosa
Surv Ophthalmol 33:137-177, Pagon,R.A., 1988
Hereditary Motor & Sensory Neuropathy, X-Linked:A Half Century Follow-Up
Neurol 37:1460-1465, Rozear,M.P.,et al, 1987
Ocular Complications of Tangier Disease
Am J Med 83:991-994, Pressley,T.A.,et al, 1987
Hereditary Neuropathy with Liability to Pressure Palsies
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Chronic Demyelinating Peripheral Neuropathy in Cerebrotendinous Xanthomatosis
Ann Neurol 20:89-91, Argov,Z.,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
Neurogenic Arthropathy & Recurring Fractures with Subclinical Inherited Neuropathy
Neurol 33:357-367, Dyck,P.J.,et al, 1983
Clinicopathological Conference
Maroteaux-Lamy Syndrome, Case 44-1983, NEJM 309:1109-1117983., , 1983
Exacerbation of Charcot-Marie-Tooth Disease in Pregnancy
Neurol 32:1311-1314, Pollock,M.,et al, 1982
Intensive Evaluation of Referred Unclassified Neuropathies Yields Improved Diagnosis
Ann Neurol 10:222-226, Dyck,P.J.,et al, 1981
Bilateral Vocal Cord Paralysis in a Patient With Familial Hypertrophic Neuropathy
Arch Neurol 38:532, Johnson,J.A.,et al, 1981
Pattern Reversal Visual Evoked Potentials
Arch Neurol 38:739-741, Bird,T.D.,et al, 1981
Dejerine-Sottas Disease Revisited
Arch Neurol 37:67-68, Stran,R., 1980
Central Vestibular Involvement in Peroneal Muscle Atrophy:A Preliminary Report
Ann Neurol 5:118-120, Melgaard,B.,et al, 1979
Meningiomas & Aneurysms of the Cavernous Sinus, Neuro-ophthalmolicic Features
Arch Ophthalmol 96:457-467, Trobe,J.D.,et al, 1978
Cervical Myelographic Changes in Hypertrophic Interstitial Polyneuropathy
Ann Neurol 2:83, Hammerschlag,S.B.,et al, 1977
Nerve Growth Factor (three parts)
NEJM 297:1096, 1149, 1211977., Mobley,W.C.,et al, 1977
Nerve-Growth Factor in Familial Dysautonomia
NEJM 295:671, Montalcini,R.L., 1976
Charcot-Marie-Tooth Disease Associated With"Essential Tremor"
Neurol Sciences 28:17-40, Salisachs,P.J., 1976