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A 53-year-old Woman with Lower Extremity Paresthesias
Neurol 94:1105-1108, Dehbashi, S.,et al, 2020
Nusinersen in Adult Patients with Spinal Muscular Atrophy
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Leg Weakness and Stiffness at the Emergency Room
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Strokelike Episodes in a Patient with Chronic Gait Abnormalities
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Nusinersen Versus Sham Control in Later-Onset Spinal Muscular Atrophy
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Cerebral White Matter Abnormalities in Patients with Charcot-Marie-Tooth Disease
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Man with Recurrent Paralysis and Cerebral White Matter Lesions
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MR Neurography for the Diagnosis of Hypertrophic Neuropathies
Neurol 89:e201, Sgobbi de Souza, P.V.,et al, 2017
Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy
NEJM 377:1713-1722,1786, Mendell, J.R.,et al, 2017
Nusinersen Versus Sham Control in Infantile-Onset Spinal Muscular Atrophy
NEJM 377:1723-1732,1786, Finkel, R.S.,et al, 2017
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Brugada Syndrome in Spinal and Bulbar Muscular Atrophy
Neurol 82:1813-1821, Araki, A.,et al, 2014
Degenerative Diseases of the Nervous System, Werdnig-Hoffman Disease, Spinal Muscular Atrophy
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Degenerative Diseases of the Nervous System, Kugelberg-Welander Syndrome SMAIII
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Chronic and Slowly Progressive Weakness of the Legs and Hands
BMJ 348:g459, Nightingale, H.,et al, 2014
Clinicopathologic Conference, Adult T-cell Leukemia-lymphoma Associated with HTLV-1
NEJM 367:552-563, Case 24-2012, 2012
Clinical Reasoning: A Young Man with Reversible Paralysis, Cerebral White Matter Lesions, and Peripheral Neuropathy
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Spinal Muscular Atrophy A Timely Review
Arch Neurol 68:979-984, Kolb, S.J.,et al, 2011
Clinical Reasoning: A 34-Year-Old Woman with Recurrent Bouts of Acral Paresthesias
Neurol 74:775-778, Karam,C. &Scelsa,S., 2010
Whole-Genome Sequencing in a Patient with Charcot-Marie-Tooth Neuropathy
NEJM 362:1181-1191, Lupski,J.R., et al, 2010
The Floppy Infant: Evaluation of Hypotonia
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Spinal Muscular Atrophy
Lancet 371:2120-2133, Lunn,M.R. &Wang,C.H., 2008
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
Natural History of Human T-Lymphotropic Virus 1-Associated Myelopathy: A 14-Year Follow-Up Study
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Hereditary Motor and Sensory Neuropathies
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NT-3 Promotes Nerve Regeneration and Sensory Improvement in CMT1A Mouse Models and in Patients
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Quality of Life in Patients with Charcot-Marie-Tooth Disease
Neurol 65:922-924, Vinci,P.,et al, 2005
Charcot-Marie-Tooth Disease:Extensive Cranial Nerve Involvement on CT and MR Imaging
AJNR 25:494-497, Aho,T.R.,et al, 2004
CMT with Pyramidal Features
Neurol 60:696-699, Vucic,S.,et al, 2003
Post-transplantation HTLV-1 Myelopathy in Three Recipients From a Single Donor
JNNP 74:1080-1084, Zarranz Imirizaldu,J.J., et al, 2003
The CNS Phenotype of X-Linked Charcot-Marie-Tooth Disease
Neurol 61:1475-1478, Taylor,R.A.,et al, 2003
Prevalence and Clinical Features of HTLV Neurologic Disease in the HTLV Outcomes Study
Neurol 61:1588-1594, Orland,J.R.,et al, 2003
Disability and Quality of Life in Charcot-Marie-Tooth Disease Type 1
JNNP 70:548-550, Pfeiffer,G.,et al, 2001
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
Compression of Spinal Cord and Cauda Equina in Charcot-Marie-Tooth Disease Type 1A
Neurol 52:890-891, Butefisch,C.,et al, 1999
Molecular Basis of the Neurodegenerative Disorders
NEJM 340:1970-1980, Martin,J.B., 1999
HTLV-I-Associated Myelopathy:Acute Progression and Atypical MR Findings
AJNR 20:1417-1421, Shakudo,M.,et al, 1999
The Roussy-Levy Family:From the Original Description to the Gene
Ann Neurol 46:770-773, Plante-Bordeneuve,V.,et al, 1999
Hypertrophy of Multiple Cranial Nerves and Spinal Roots in Chronic Inflammatory Demyelinating Neuropathy
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MR Findings of Werdnig-Hoffmann Disease in Two Infants
AJNR 19:550-552, Hsu,C.,et al, 1998
PCR-Based Strategy for Dx of Hered Neuropathy with Liability to Pressure Palsies & Charcot-Marie-Tooth Dis Type 1A
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HTLV-Associated Myelopathy in a Cohort of HTLV-I and HTLV-II Infected Blood Donors
neurol 48:315-320, Murphy,E.L.,et al, 1997
Immunologic Analysis of Spinal Cord-Biopsy Specimen from a Pt with HTLV-I-Associated Neurologic Disease
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Charcot-Marie-Tooth Disease and Related Inherited Neuropathies
Medicine 75:233-250, Murakami,T.,et al, 1996
From Enigmatic to Problematic:The New Molecular Genetics of Childhood Spinal Muscular Atrophy
Neurol 46:335-340, Crawford,T.O., 1996
Human T-Cell Lymphotropic Virus Type 1-Associated Myelopathy, Sjogren Syndrome, and Lymphocytic Pneumonitis
Arch Neurol 53:940-942, Kompoliti,A.,et al, 1996