Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
Brain 134:3326-3332, Garone, C.,et al, 2011
Retinitis Pigmentosa
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Rare Cause of Hemiparesis and Ataxia in a 36-Year-Old Man
Neurol 98:251-255, Decker, J. & Singh, M., 2022
Telemedicine in Neurology
Neurol 94:30-38,16, Hatcher-Martin, J.M.,et al, 2020
Duchenne Muscular Dystrophy
BMJ 368:L7012, Fox, H.,et al, 2020
Accuracy of a Machine Learning Muscle MRI - Based Tool for the Diagnosis of Muscular Dystrophies
Neurol 94:e1094-e1102, Verdu-Diaz, J.,et al, 2020
Muscular Dystrophies
Lancet 394:2025-2038, Mercuri, E.,et al, 2019
Behcet Disease
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Clinicopathologic Conference, Paroxysmal Nocturnal Hemoglobinuria
NEJM 377:2581-2590, Case 40-2017, 2017
The Limbic-Girdle Muscular Dystrophies
Neuro Clin 32:729-749, Wicklund, M.P. and Kissel, J.T., 2014
Muscle Histology vs MRI in Duchenne Muscular Dystrophy
Neurol 76:346-353, Kinali,M.,et al, 2011
Clinicopath Conference, Giant Cell Arteritis
NEJM 362:537-546, Case 4-2010, 2010
Clinical Presentation, Pathologic Features, and Diagnosis of Primary Central Nervous System Lymphoma
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Diagnosis and New Treatments in Muscular Dystrophies
JNNP 80:706-714, Manzur,A.Y. &Muntoni,F., 2009
Diagnosis and Therapy in Neuromuscular Disorders: Diagnosis and New Treatments in Mitochondrial Diseases
JNNP 80:943-953, Rahman,S. &Hanna,M.G., 2009
T2* and FSE MRI Distinguishes Four Subtypes of Neurodegeneration With Brain Iron Accumulation
Neurol 70:1614-1619, McNeill,A.,et al, 2008
Diagnosis and Etiology of Congenital Muscular Dystrophy
Neurol 71:312-321,308, Peat,R.A.,et al., 2008
Tuberous Sclerosis
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Neurologic Manifestations of von Hippel-Lindau Disease
JAMA 300:1334-1342, Butman,J.A.,et al, 2008
Insights into the Dynamics of Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids
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Outcome of Neonatal Screening for Medium-Chain acyl-CoA Dehydrogenase Deficiency in Australia: A Cohort Study
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Diagnostic Evaluation of Clinically Normal Subjects with Chronic hyperCKemia
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The Tuberous Sclerosis Complex
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Mitochondrial DNA Polymerase-y and Human Disease
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Susac Syndrome:Report of Four Cases and Review of the Literature
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Myotonic Dystrophy Type 2
Neurol 60:657-664, Day,J.W.,et al, 2003
Insights Into the Diagnosis and Treatment of Lysosomal Storage Diseases
Arch Neurol 60:322-328, Wegner,D.A.,et al, 2003
The Phenotype of Limb-Girdle Muscular Dystrophy Type 21
Neurol 60:1246-1251,1230, Poppe,M.,et al, 2003
von Hippel-Lindau Disease
Lancet 361:2059-2067, Lonser,R.R.,et al, 2003
Polymyositis and Dermatomyositis
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A Novel, Blood-Based Diagnostic Assay for Limb Girdle Muscular Dystrophy 2B and Miyoshi Myopathy
Ann Neurol 51:129-133, Ho,M.,et al, 2002
Diagnostic Criteria Used in Studies of Reflex Sympathetic Dystrophy
Neurol 58:522-526, van de Beek,W.-J.T.,et al, 2002
New Strategy for Prenatal Diagnosis of X-Linked Disorders
NEJM 346:1502, Costa,J.,et al, 2002
A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002
Avoiding Pitfalls in the Diagnosis of Subarachnoid Hemorrhage
NEJM 342:29-36, Edlow,J.A.&Caplan,L.R., 2000
Infantile Neuroaxonal Dystrophy,Clinical Spectrum and Diagnostic Criteria
Neurol 52:1472-1478, Nardocci,N.,et al, 1999
New Developments in the Neurobiology of the Tuberous Sclerosis Complex
Neurol 53:1384-1390, Crino,P.B.&Henske,E.P., 1999
Retinocochleocerebral Vasculopathy
Medicine 77:12-40, Petty,G.W.,et al, 1998
Susac Syndrome
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The Muscular Dystrophies
BMJ 317:991-995, Emery,A.E.H., 1998
X-Linked Emery-Dreifuss Muscular Dystrophy Can Be Diagnosed from Skin Biopsy or Blood Sample
Ann Neurol 42:249-253, Mora,M.,et al, 1997
Diagnosis of Merosin (Laminin-2) Deficient Congenital Muscular Dystrophy by Skin Biopsy
Lancet 347:582-584, Sewry,C.A.,et al, 1996
Prenatal Diagnosis of Duchenne Muscular Dystrophy Using a Single Fetal Nucleated Erythrocyte in Maternal Blood
Neurol 46:1350-1353, Sekizawa,A.,et al, 1996
Investigation of Muscle Disease
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Reversible Blindness Secondary to Acute Sphenoid Sinusitis
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Rapid Direct Diagnosis of Deletions Carriers of Duchenne and Becker Muscular Dystrophies
Lancet 344:302-303, Fassati,A.,et al, 1994
Trinucleotide Repeat Expansion in Neurological Disease
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Direct Diagnosis of Myotonic Dystrophy with a Disease-Specific DNA Marker
NEJM 328:471-475, Shelbourne,P.,et al, 1993
Analysis of Dystrophin Expression after Activation of Myogenesis in Amniocytes, Chorionic-Villus Cells, and Fibroblasts
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