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Neurol 100:1025-1031, Sharma,V. & Soto,O, 2023
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BMJ 368:L7012, Fox, H.,et al, 2020
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BMJ 366:I4966, Ghali, N.,et al, 2019
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Lancet Neurol 18:1136-1146, Shribman,S.,et al, 2019
A Curable Myopathy Manifesting as Exercixe Intolerance and Respirtory Failure
Neurol 91:187-190, Silva,A.M.S.,et al, 2018
Non-Alzheimers Dementia 1 Frontotemporal Dementia
Lancet 386:1672-1682, Bang, Jee.,et al, 2015
Brain Arteriovenous Malformation Multiplicity Predicts the Diagnosis of Hereditary Hemorrhagic Telangiectasia Quantitive Assessment
Stroke 43:72-78, Bharatha, A.,et al, 2012
Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
Brain 133:655-670, Leen,W.G., et al, 2010
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Br Med Bull 89:183-201, Orcesi, S.,et al, 2009
Amyotrophic Lateral Sclerosis
Lancet 369:2031-2041, Mitchell,J.D. & Borasio,G.D., 2007
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Neurologist 13:305-312, Paprocka,J.,et al, 2007
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
Pediatrics 102:98-100, Cabana,M.D.,et al, 1998
Prader-Willi and Angelman Syndromes
Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998
The Phenotypic Spectrum of CADASIL:Clinical Findings in 102 Cases,
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X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy
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Psychosis as the Initial Manifestation of Adult-Onset Niemann-Pick Disease Type C
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Dopa Responsive Dystonia:A Treatable Condition Misdiagnosed as Cerebral Palsy
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Phosphorylase Deficiency
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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,et al, 2024
A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
Neurol 100:206-212, Stamm,B.,et al, 2023
Genetic Causes of Cerebral Small Vessel Diseases, A Parctical Guide for Neurologists
Neurol 100:766-783, Manini,A.,&Pantoni,L., 2023
Neonatal Seizures
NEJM 388:1692-1700, Ropper.A.H., 2023
Thyrotoxic Periodic Paralysis
UptoDate Jan, Gutmann, L. & Conwit, R., 2022
A 6-Year-Old Girl with Progressive Toe Walking
Neurol 98:e769-e773, Libdeh, A.A. & Ibrahim, A., 2022
Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
UptoDate 2022 Jan, Darras, B.T., 2022
More Than a Little Unsteady
NEJM 387:e9, Kraft, A.W.,et al, 2022
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Lancet 400:1363-1380, Feldman, E.L.,et al, 2022
Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022
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Lancet 397:1577-1590, Scheltens, P.,et al, 2021
Imaging Patterns Characterizing Mitochondrial Leukodystrophies
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Ann Neurol 90:1001-1002, Landis,T.M.,et al, 2021
A 22-Year-Old Man with Progressive Bilateral Visual Loss
Neurol 94:625-630, Yang, S.L.,et al, 2020
Pediatric Leigh Syndrome
Ann Neurol 88:218-232, Alves, C.A.P.F.,et al, 2020
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Lancet 394:2025-2038, Mercuri, E.,et al, 2019
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AIAN 22:267-276, Batla, A. & Gaddipati, C., 2019
Clinical Reasoning: A Teenager with Left Arm Weakness
Neurol 90:e907-e910, Al-Ghamdi, F.,et al, 2018
Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia: An MRI Study of 16 French Cases
AJNR 39:1657-1661, Codjia, P.,et al, 2018
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AJNR 38:1467-1474, Bond, K.M.,et al, 2017
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MRI Findings of Biotin-Responsive Basal Ganglia Disease Before and After Treatment
Neurol 86:e71-e72, Saeedan, M.B. & Dogar, M.A., 2016
Hydrocephalus in Children
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