A Middle-aged Woman with Severe Scoliosis and Encephalopathy
JAMA Neurol 78:251-252, Mohan, G.,et al, 2021
Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
Lancet Neurol 18:1136-1146, Shribman,S.,et al, 2019
Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Myotonic Dystrophy
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Paraneoplastic Myeloneuropathies
Neurol 96:e632-e639, Shah, S.,et al, 2021
Clinicopathologic Conference, Normal Pressure Hydrocephalus
NEJM 384:1350-1358, Case 10-2021, 2021
Clinical Characteristics, Risk Factors, and Outcomes of POEMS Syndrome
Neurol 95:e268-e279, Keddie, S.,et al, 2020
Multiple-System Atrophy
NEJM 372:249-263, Fanciulli, A. & Wenning, G.K., 2015
Evaluation of a Patient with Spinal Cord Infarction after a Hypotensive Episode
Stroke 45:e203-e205, Vongveeranonchai, N.,et al, 2014
New Aspects on Patients Affected by Dysferlin Deficient Muscular Dystrophy
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Clinical Spectrum of Ataxia-Telangiectasia in Adulthood
Neurol 73:430-437, Verhagen,M.M.M.,et al, 2009
Progressive Supranuclear Palsy: A Current Review
The Neurologist 14:79-88, Lubarsky,M. &Juncos,J.L., 2008
Curable Cause of Paraplegia: Spinal Dural Arteriovenous Fistulae
Stroke 39:2756-2759, Aghakhani,N.,et al, 2008
Silent Infarcts Demonstrated by Diffusion-Weighted MRI in CADASIL
Eur Neurol 49: 178-180, Moon,S.Y.,et al, 2003
Desmin Myopathy, a Skeletal Myopathy with Cardiomyopathy Caused by Mutations in the Desmin Gene
NEJM 342:770-780, Dalakas,M.C.,et al, 2000
The Muscular Dystrophies
BMJ 317:991-995, Emery,A.E.H., 1998
Age on Onset, Sex, & Cardiomyopathy as Predictors of Disability and Survival in Friedreich's Disease
Neurol 47:1260-1264, DeMichele,G.,et al, 1996
Primary Lateral Sclerosis, Clin Features, Neuropath & Dx Criteria
Brain 115:495-520, Pringle,C.E.,et al, 1992
Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,et al, 2024
Slowly rogressive Cerebellar Ataxia in a 55-Year-Old Female Patient
JAMA Neurol 80:107-108, Bernaola,M.T.,et al, 2023
Ears of the Lynx Magnetic Resonance Imaging Sign
Ann Neurol 88:16-17, Baghbanian, S.M.,et al, 2020
A 72-year-old Man with a Progressive Cognitive and Cerebellar Syndrome
Neurol 95:e2707-e2710, Lad, M. & Griffiths, T.D., 2020
Cerebellar Ataxia and Hearing Impairment
JAMA Neurol 74:243-244, Lin, C.Y. & Kuo, S.H., 2017
Clinicopathologic Conference, Biotinthiamine-Responsive Basal Ganglia Disease Due to Mutation SLC19A3
NEJM 377:2376-2385, Case 38-2017, 2017
Spinocerebellar Ataxia Type 2: Clinicogenetic Aspects, Mechanistic Insights, and Management Approaches
Front Neurol doi:10.3389/fneur.2017.00472, Velazquez-Perez, L.C.,et al, 2017
Clinicopathologic Conference, Frontotemporal Lobar Degeneration with Tau-positive Inclusions (Picks Disease Subtype) Due to a Gly389Arg MAPT Mutation, Resulting in the Behavioral Variant of Frontotemporal Dementia with Parkinsonism
NEJM 372:1151-1162, Miller, B.L.,et al, 2015
Mystery Case: A Young Boy with Myoclonic Jerks
Neurol 81:e130-e134, Musleh, C.,et al, 2013
Clinicopath Conf, Dopamine-Responsive-Dystonia Caused by a Mutation in the GCH1 Gene
NEJM 355:831-839, Case 26-2006, 2006