Clinical Genetics in Neurological Disease
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A 53-year-old Woman with Lower Extremity Paresthesias
Neurol 94:1105-1108, Dehbashi, S.,et al, 2020
Man with Recurrent Paralysis and Cerebral White Matter Lesions
JAMA Neurol 74:599-600, Xiao, F., 2017
Chronic and Slowly Progressive Weakness of the Legs and Hands
BMJ 348:g459, Nightingale, H.,et al, 2014
Clinical Reasoning: A Young Man with Reversible Paralysis, Cerebral White Matter Lesions, and Peripheral Neuropathy
Neurol 79: e70-e72, Zhong, L.,et al, 2012
Clinical Reasoning: A 34-Year-Old Woman with Recurrent Bouts of Acral Paresthesias
Neurol 74:775-778, Karam,C. &Scelsa,S., 2010
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
Finding the Causes of Inherited Neuropathies
Arch Neurol 63:812-816, Scherer,S.S., 2006
Charcot-Marie-Tooth Disease:Extensive Cranial Nerve Involvement on CT and MR Imaging
AJNR 25:494-497, Aho,T.R.,et al, 2004
The CNS Phenotype of X-Linked Charcot-Marie-Tooth Disease
Neurol 61:1475-1478, Taylor,R.A.,et al, 2003
MR Imaging of the Cauda Equina in Hereditary Motor Sensory Neuropathies: Correlations with Sural Nerve Biopsy
AJNR 21:1793-1798,1779, Cellerini,M.,et al, 2000
Hypertrophy of Multiple Cranial Nerves and Spinal Roots in Chronic Inflammatory Demyelinating Neuropathy
JNNP 67:685-687, Duarte,J.,et al, 1999
Charcot-Marie-Tooth Disease and Related Inherited Neuropathies
Medicine 75:233-250, Murakami,T.,et al, 1996
Charcot-Marie-Tooth Neuropathies:From Clinical Description to Molecular Genetics
Muscle & Nerve 18:267-275995., Ionasecu,V.V., 1995
De-Novo Mutation in Hereditary Motor and Sensory Neuropathy Type I
Lancet 339:1081-1082, Hoogendijk,J.E.,et al, 1992
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
Compression Syndromes Due to Hypertrophic Nerve Roots in Hereditary Motor Sensory Neuropathy Type I
Neurol 39:1173-1177, Rosen,S.A.,et al, 1989
Hereditary Motor & Sensory Neuropathy, X-Linked:A Half Century Follow-Up
Neurol 37:1460-1465, Rozear,M.P.,et al, 1987
Lower Motor & Primary Sensory Neuron Diseases with Peroneal Muscular Atrophy (II)
Arch Neurol 18:619, Dyck,P.,et al, 1968