Spinal Muscular Atrophy
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Diagnosis and Etiology of Congenital Muscular Dystrophy
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Muscular Dystrophies
Lancet 394:2025-2038, Mercuri, E.,et al, 2019
Clinical Reasoning: Encephalopathy in a 10-year-old boy
Neurol 79:e12-e18, Rodan, L. & Tein, I., 2012
LMNA Cardiomyopathy:Cell Biology and Genetics Meet Clinical Medicine
Disease Models & Mechanisms 4:562-568, Lu,J.T., et al, 2011
Mitochondrial DNA Polymerase-y and Human Disease
Hum Mol Genet 15:R244-R252, Hudson, G.,et al, 2006
Progressive Myoclonic Epilepsies: A Review of Genetic and Therapeutic Aspects
Lancet Neurol 4:239-248, Shahwan, A., et al, 2005
A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002
The Muscular Dystrophies
BMJ 317:991-995, Emery,A.E.H., 1998
From Enigmatic to Problematic:The New Molecular Genetics of Childhood Spinal Muscular Atrophy
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Investigation of Muscle Disease
JNNP 60:256-274, Mastaglia,F.L.&Laing,N.G., 1996
Mitochondrial DNA and Disease
NEJM 333:638-644, Johns,D.R., 1995
Genetic Homogeneity Between Childhood-Onset and Adult-Onset Autosomal Recessive Spinal Muscular Atrophy
Lancet 346:741-742, Brahe,C.,et al, 1995
Trinucleotide Repeat Expansion in Neurological Disease
Ann Neurol 36:814-822, LaSpada,A.R.,et al, 1994
Myotonic Dystrophy
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Molecular Genetics in Neurology
Ann Neurol 34:757-773, Martin,J.B., 1993
Clinicopath Conf
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Familial Creutzfeldt-Jakob Disease (Codon 200 Mutation) with Supranuclear Palsy
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Prevalence and Incidence of Becker Muscular Dystrophy
Lancet 337:1022-1024, Bushby,K.M.D.,et al, 1991
Primary Brain Tumours in Adults
Lancet 402:1564-1579, van den Bent,M.,et al, 2023
Molecular Diagnostic Yield of Exome Sequencing in Patients with Cerebral Palsy
JAMA 325:467-475, Moreno-De-Luca, A.,et al, 2021
Ehlers-Danlos Syndromes
BMJ 366:I4966, Ghali, N.,et al, 2019
Diagnosis and Misdiagnosis of Adult Neuronal Ceroid Lipofuscinosis
Neurol 87:579-584, Berkovic, S.F.,et al, 2016
Dystonia in Children and Adolescents: A Systematic Review and a New Diagnostic Algorithm
JNNP 86:774-781, Van Egmond, M.E.,et al, 2015
Actionable Diagnosis of Neuroleptospirosis by Next-Generation Sequencing
NEJM 370:Doi:10.1056/NEJMoal1401268, Wilson, M.R.,et al, 2014
Intracranial Neoplasms and Paraneoplastic Disorders
Adams & Victors Principles of Neurology, Chp 31, pg 639, Ropper, A.H.,et al, 2014
Spinal Muscular Atrophy A Timely Review
Arch Neurol 68:979-984, Kolb, S.J.,et al, 2011
Detection of Human Herpesvirus-6 in Cerebrospinal Fluid of Patients with Encephalitis
Ann Neurol 65:257-267,235, Yao,K.,et al, 2009
Diagnosis and New Treatment in Muscle Channelopathies
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Neurofibromatosis Type 2
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Clinical and Mutational Spectrum of Neurofibromatosis Type 1-Like Syndrome
JAMA 302:2111-2118, 2150, 2170, Messian,L.,et al, 2009
A 23-Year-Old Man With Seizures and Visual Deficit
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Tuberous Sclerosis
Lancet 372:657-658, Curatolo,P.,et al., 2008
Whipples Disease
NEJM 356:55-66, Fenollar,F.,et al, 2007
Parkinson Disease, 10 Years After Its Genetic Revolution: Multiple Clues to a Complex Disorder
Neurol 69:2093-2104, Klein,C. &Schlossmacher,M.G., 2007
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
The Tuberous Sclerosis Complex
NEJM 355:1345-1356, Crino,P.B.,et al, 2006
Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
Brain 129:1674-1684, Horvath, R.,et al, 2006
Unusual Variants of Alexander's Disease
Ann Neurol 57:327-338, van der Knaap,M.S., et al, 2005
Myotonic Dystrophy Type 2
Neurol 60:657-664, Day,J.W.,et al, 2003
Von Recklinghausen's Neurofibromatosis: Neurofibromatosis Type 1
Lancet 361:1552-1554, Reynolds,R.M., et al, 2003
von Hippel-Lindau Disease
Lancet 361:2059-2067, Lonser,R.R.,et al, 2003
The Hereditary Spastic Paraplegias
Arch Neurol 60:1045-1049, Fink,J.K., 2003
Primary Anaplastic Large Cell Lymphoma of the Central Nervous System
Am J Surg Pathol 27:487-493, George, D.H.,et al, 2003
CSF Evaluation in Primary CNS Lymphoma Patients by PCR of the CDR III IgH Genes
Neurol 58:390-396,339, Gleissner,B.,et al, 2002
Hearing Loss is a Common Feature of Symptomatic Children with Profound Biotinidase Deficiency
J Pediatr 140:242-246, Wolf,B.,et al, 2002
Alzheimer Disease
JAMA 287:2335-2338, Cummings,J.L. &Cole,G., 2002
Sickle Cell Disease: The Neurological Complications
Ann Neurol 51:543-552, Prengler,M.,et al, 2002
Impact of the Human Genome Projects and Identification of a Stroke Gene
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