A 45-year-old man with Weakness and Myalgia after Orthopedic Surgery
Neurol 88:e185-e189, Vazquez do Campo, R.,et al, 2017
Degenerative Diseases of the Nervous System, Amyotrophic Lateral Sclerosis
Adams & Victors Principles of Neurology, Chp 39, pg 1109, Ropper, A.H.,et al, 2014
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
Reversible Cortical and Basal Ganglia Lesions in Late-Onset Methylmalonic Aciduria
JAMA Neurol 81:1-82, Chu,X.C.,et al, 2024
A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
Neurol 102:e209358, Barbosa,A.R.,et al, 2024
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
Wilson Disease Presenting with Catatonia
Neurol 96:e2781-e2782, Patel, R.A. & Bailey, M., 2021
Clinicopathologic Conference, Vascular Ehlers-Danlos Syndrome
NEJM 385:1317-1325, Case 30-2021, 2021
A 22-Year-Old Man with Progressive Bilateral Visual Loss
Neurol 94:625-630, Yang, S.L.,et al, 2020
Ears of the Lynx Magnetic Resonance Imaging Sign
Ann Neurol 88:16-17, Baghbanian, S.M.,et al, 2020
Complex Ataxia
Neurol 95:136-141, Abkur, T.,et al, 2020
Spinal Xanthomatosis
Neurol 95:e1615-e1616, Valencia-Sanchez, C.,et al, 2020
"Ears of the Lynx" MRI Sign is Associated with SPG11 and SPG15 Hereditary Spastic Paraplegia
AJNR 40:199-203, Pascual, B.,et al, 2019
Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement
AJNR 40:903-907, Hartin, I.,et al, 2019
Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
Lancet Neurol 18:1136-1146, Shribman,S.,et al, 2019
Review of the Neurological Implications of von Hippel-Lindau Disease
JAMA Neurol 75:620-627, Dornbos, D.,et al, 2018
FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
Mol Genet Metab 125:281-291, Almannai, M.,et al, 2018
Sudden-Onset Pulsatile Headache in a Previously Healthy Young Man
Neurol 88:e26-e29, Qin, C.,et al, 2017
Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
NEJM 376:1668-1678, CASE 13-2017, 2017
A Middle-aged man with Progressive Ophthalmoparesis, Ataxia, and Spastic Paraparesis
JAMA Neurol 74:733-736, Kung, N.H.,et al, 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
SPG7 Mutations Explain a Significant Proportion of French Canadian Spastic Ataxia Cases
Eur J Hum Genet 24:1016-1021, Choquet,K.,et al, 2016
DARS-Associated Leukoencephalopathy can Mimic a Steroid-Responsive Neuroinflammatory Disorder
Neurol 84:226-230,218, Wolf, N.I.,et al, 2015
Mystery Case: A 21-Year-Old Man with Visual Loss Following Marijuana Use
Neurol 84:e165-e169, Whitlock, J.B.,et al, 2015
A 51-year-old Woman with Weakness and Stiff Neck
Neurol 85:e32-e36, Kassardjian, C.D. & Milone, M., 2015
Characyeristic features and progression of abnormalities on MRI for CARASIL
Neurol 85:459-463, Sekine, Y., etal, 2015
Polycythemia Vera Presenting with Ischemic Strokes in Multiple Arterial Territories
Neurol 82:e168-e170, Billakota, S. & Husseini, N.E., 2014
Degenerative Diseases of the Nervous System, Kugelberg-Welander Syndrome SMAIII
Adams & Victors Principles of Neurology, Chp 39, pg 1118, Ropper, A.H.,et al, 2014
Degenerative Diseases of the Nervous System, Hereditary Spastic Paraplagia
Adams & Victors Principles of Neurology, Chp 39, pg 1119, Ropper, A.H.,et al, 2014
Clinical Reasoning: A Case of Treatable Spastic Paraparesis
Neurol 79: e50-e53, McKinnon, J.H. & Bosch E.P., 2012
MELAS
MedLink.com, August, Klopstock, T., 2012
GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
Neurol 77:1287-1294, Prust, M.,et al, 2011
Late-Onset Metachromatic Leukodystrophy: Genotype Strongly Influences Phenotype
Neurol 67:859-863, Rauschka,H.,et al, 2006
Clinicopath Conf, Dopamine-Responsive-Dystonia Caused by a Mutation in the GCH1 Gene
NEJM 355:831-839, Case 26-2006, 2006
A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002
Hereditary Spastic Paraparesis: A Review of New Developments
JNNP 69:150-160, McDermott,C.J. et al, 2000
Exercise Intolerance Due to Mutations in the Cytochrome b Gene of Mitochondrial DNA
NEJM 341:1037-1044, 1077, Andreu,A.L.,et al, 1999
Adult-Onset Krabbe Disease with Mutation in the Galactocerebrosidase Gene, MRI of Corticospinal Tract Demyelin
Neurol 49:1392-1399, Satoh,J.-I.,et al, 1997
The Spectrum of Fragile X Disorders
NEJM 393:281-288, Hagerman,R.H. & Hagerman,P.J., 2025
A 2-Year-Old Girl with Acute Encephalopathy After Febrile Systemic Illness
Neurol 105:e213970, Westendfortp,W.F.,et al, 2025
A 50-YEar-Old Man with Intracerebral Hemorrhage and Tortuous Retinal Arterioles
Neurol 103:e209796, Bouchart,J.,et al, 2024
Focusing on the Eye Signs of Alport Syndrome in a 40-Year-Old Man Who Previously Had a Kidney Transplant and Hearing Loss
Lancet 401:e2, Kovalchuk,B. & Khoramnia,R., 2023
Neuroimaging Features of Biotinidase Deficiency
AJNR 44:328-333, Biswas,A.,et al, 2023
Spectrum of Neuroradiologic Findings Associated with Monogenic Interferonopathies
AJNR 43:2-10, Benjamin, P.,et al, 2022
Multiple Cranial Nerve Gadolinium Enhancement in Norrie Disease
Ann Neurol 91:158-159, Jokela, M.,et al, 2022
A 31-Year-Old Man with Sequential Vision Loss
Neurol 98:163-169, Fortes, B.,et al, 2022
Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
NEJM 386;674-687, Case 5-2022, 2022
Leber Hereditary Optic Neuropathy with Longitudinal Spinal Cord Lesion Mimicking Spinal Cord Infarction
Neurol 98:468-469, Zhao, B.,et al, 2022
Updates on Sturge-Weber Syndrome
Stroke 53:3769-3779, Yeom,S.E.&Comi,A.M., 2022