Hereditary Recurrent Focal Neuropathies, Clinical and Molecular Features
Neurol 54:546-551, Stogbauer,F.,et al, 2000
Neurogenic Muscle Hypertrophy
Muscle & Nerve 19:811-818996., Gutmann,L., 1996
Clinicopath Conf
Tangier Disease, Case 16-1996, NEJM 334:1389-1394996., , 1996
Inherited Primary Peripheral Neuropathies
JAMA 270:2326, 23301993., Lupski,J.R.,et al, 1993
A 26-Year-Old Woman with Recurrent Pain, Weakness, and Atrophy in Bilateral Upper Limbs During Pregnancy and Puerperium
Neurol 100:631-637, Zeng,T.f.,et al, 2023
MR Neurography for the Diagnosis of Hypertrophic Neuropathies
Neurol 89:e201, Sgobbi de Souza, P.V.,et al, 2017
Clinicopath Conf, Charcot-Marie-Tooth Disease Type 2, with Aides Pupil and a Mutation in MPZ Gene
NEJM 354:2584-2592, Case 18-2006, 2006
Autonomic Peripheral Neuropathy
Lancet 365:1259-1270, Freeman,R., 2005
Indications and Usefulness of Nerve Biopsy
Arch Neurol 59:1532-1535, Said,G., 2002
Clinical Spectrum of Chronic Acquired Demyelinating Polyneuropathies
Muscle & Nerve 24:311-324, Saperstein,D.S.,et al, 2001
PCR-Based Strategy for Dx of Hered Neuropathy with Liability to Pressure Palsies & Charcot-Marie-Tooth Dis Type 1A
Neurol 50:760-763, Young,P.,et al, 1998
Detection of a Varient Protein in Hair:New Diagnostic Method in Portuguese Type Familial Amyloid Polyneuropathy
BMJ 316:1500-1501, Ando,Y.,et al, 1998
Hereditary Sensory and Autonomic Neuropathy with Cataracts, Mental Retardation, and Skin Lesions:Five Cases
Neurol 45:1405-1408, Heckmann,J.M.,et al, 1995
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
Corticosteroid-Responsive Dominantly Inherited Neuropathy in Childhood
Neurol 41:437-439, Bird,S.J.&Sladky,J.T., 1991
Tangier Disease in a Black Patient:An Unusual Clinical Presentation
Am J Med 89:105-108, Lo,W.D.,et al, 1990
Refsum Disease
In Rowland's Merritt's Textbk of Neurology, Lea & Febiger, Phila, 8thEd, p. 509, Menkes,J.H., 1989
Familial Oculoleptomeningeal Amyloidosis, Report of a New Family with Unusual Features
Arch Neurol 45:1118-1122, Uitti,R.J.,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
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
Intensive Evaluation of Referred Unclassified Neuropathies Yields Improved Diagnosis
Ann Neurol 10:222-226, Dyck,P.J.,et al, 1981
Nerve Growth Factor (three parts)
NEJM 297:1096, 1149, 1211977., Mobley,W.C.,et al, 1977
Scalloped Pupils in Familial Amyloidosis
NEJM 293:914, Lessell,S.,et al, 1975