Sturge-Weber Syndrome
UptoDate , Nov, Bodensteiner, J.B., 2014
Clinical Manifestations and Diagnosis of Bicuspid Aortic Valve in Adults
UpToDate Nov, Braverman, D.C., 2014
The Limbic-Girdle Muscular Dystrophies
Neuro Clin 32:729-749, Wicklund, M.P. and Kissel, J.T., 2014
Chediak-Higashi Syndrome: Pathognomonic Feature
Lancet 382:1514, Antunes, H.,et al, 2013
Extending the KCNQ2 encephalopathy Spectrum
Neurol 81:1697-1703, Weckhuysen, S.,et al, 2013
Clinical Features of MS Associated with Leber Hereditary Optic Neuropathy mtDNA Mutations
Neurol 81:2073-2081, Pfeffer, G.,et al, 2013
Sturge-Weber Syndrome
MedLink Neurology, July, Comi, A.M., 2013
Efficacy and Safety of Everolimus for Subependymal Giant Cell Astrocytomas Associated with Tuberous Sclerosis Complex (EXIST-1): A Multicenter, Randomized, Placebo-Controlled Phase 3 Trial
Lancet 381:125-132, Franz, D.,et al, 2013
Parkin Disease
JAMA Neurol 70:571-579, Doherty, K.,et al, 2013
Ataxia, Dementia, and Hypogonadotropism Caused by Disordered Ubiquitination
NEJM 368:1992-2003, Margolin, D.,et al, 2013
Sturge-Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQ
NEJM 368:1971-1979, Shirley, M.,et al, 2013
Mystery Case: A Young Boy with Myoclonic Jerks
Neurol 81:e130-e134, Musleh, C.,et al, 2013
The Cerebral Autosomal-Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) Scale
Stroke 43:2871-2876, Pescini, F.,et al, 2012
Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
NEJM 367:1921-1929, Ligt, J.,et al, 2012
Dopa-Responsive Dystonia Revisited
Arch Neurol 69:1558-1562, Tadic, V.,et al, 2012
Brain Arteriovenous Malformation Multiplicity Predicts the Diagnosis of Hereditary Hemorrhagic Telangiectasia Quantitive Assessment
Stroke 43:72-78, Bharatha, A.,et al, 2012
MELAS
MedLink.com, August, Klopstock, T., 2012
The Autosomal Recessive Cerebellar Ataxias
NEJM 366:636-646, Anheim,M.,et al, 2012
Clinical Reasoning: A 13-year-old Boy Presenting with Dystonia,Myoclonus,and Anxiety
Neurol 78:e72-e76, Blackburn,J.S. and Cirillo,M.L., 2012
CNS Involvement at the Onset of Primary Hemophagocytic Lymphohistiocytosis
Neurol 78:1150-1156, Deiva,K.,et al, 2012
A Prematurely Aging Patient Presenting with Severe Leukoaraiosis and Stroke
Neurol 78:e113-e114, Seixas,J.C.,et al, 2012
Restricted Diffusion in Vanishing White Matter
Arch Neurol 69:723-727, Van de Lei, H.D.W.,et al, 2012
Progressive Gait Deterioration in Adolescents with Dravet Syndrome
Arch Neurol 69:873-878, Rodda, J.M.,et al, 2012
The Ever-Expanding Spectrum of Congenital Muscular Dystrophies
Ann Neurol 72:9-17, Mercuri, E. & Muntoni, F., 2012
Clinical Reasoning: A Case of Treatable Spastic Paraparesis
Neurol 79: e50-e53, McKinnon, J.H. & Bosch E.P., 2012
Clinical Reasoning: A Young Man with Reversible Paralysis, Cerebral White Matter Lesions, and Peripheral Neuropathy
Neurol 79: e70-e72, Zhong, L.,et al, 2012
Range of Genetic Mutations Associated with Severe Non-Syndromic Sporadic Intellectual Disability: An Exome Sequencing Study
Lancet 380:1674-1682, Rauch, A.,et al, 2012
Diagnostic Exome, Sequencing in Persons with Severe Intellectual Disability
NEJM 367:1921-1929, Ligt, J.,et al, 2012
Heterozygous de-Novo Mutations in ATP1A3 in Patients with Alternating Hemiplegia of Childhood:A Whole-Exome Sequencing Gene-Identification Study
Lancet Neurol 11:764-773, Rosewich,H.,et al, 2012
Ipsilateral Stroke in a Patient with Horizontal Gaze Palsy with Progressive Scoliosis and a Subcortical Infarct
Stroke 42:e1-e3, Ng, A.S.L.,et al, 2011
Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
Brain 134:3326-3332, Garone, C.,et al, 2011
Spinal Muscular Atrophy A Timely Review
Arch Neurol 68:979-984, Kolb, S.J.,et al, 2011
Clinicopathologic Conference, Kufs Disease (Autosomal Dominant) Parry Type Neuronal Ceroid Lypofuscinosis
NEJM 364:1062-1074, Case 8-2011, 2011
Genes Associated With Adult Cerebral Venous Thrombosis
Stroke 42:913-918, Marjot,T.,et al, 2011
LMNA Cardiomyopathy:Cell Biology and Genetics Meet Clinical Medicine
Disease Models & Mechanisms 4:562-568, Lu,J.T., et al, 2011
GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
Neurol 77:1287-1294, Prust, M.,et al, 2011
Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
UpToDate, Feb, Shovlin, C., 2011
An unusual cause of stroke and hypoxia
BMJ 342:c7200, Bell, S.L. & Eveson, D.J., 2011
The Use of Neuroimaging in the Diagnosis of Mitochondrial Disease
Dev Disabil Res Rev 16:129-135, Friedman, S.D.,et al, 2010
Recent Insights into Cerebral Cavernous Malformations: The Molecular Genetics of CCM
FEBS J 277:1070-1075, Riant, F.,et al, 2010
Genetic Susceptibility to Stuttering
NEJM 362:750-752, Fisher,S.E. &Phil,D., 2010
The Spectrum of Mutations in Progranulin: A Collaborative Study Screening 545 Cases of Neurodegeneration
Arch Neurol 67:161-170,145, Yu,C.-E.,et al, 2010
Familial Mediterranean Fever and Central Nervous System Involvement: A Case Series
Medicine 89:75-84, Kalyoncu,U.,et al, 2010
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
Whole-Genome Sequencing in a Patient with Charcot-Marie-Tooth Neuropathy
NEJM 362:1181-1191, Lupski,J.R., et al, 2010
Clinical Spectrum of CADASIL and the Effect of Cardiovascular Risk Factors on Phenotype: Study in 200 Consecutively Recruited Individuals
Stroke 41:630-634, Adib-Samii,P., et al, 2010
Absence Epilepsies With Widely Variable Onset are a Key Feature of Familial GLUT1 Deficiency
Neurol 75:432-440, Mullen,S.A., et al, 2010
Redefining Dysferlinopathy Phenotypes Based on Clinical Findings and Muscle Imaging Studies
Neurol 75:316-323,298, Paradas,C., et al, 2010
A Hereditary Moyamoya Syndrome With Multisystemic Manifestations
Neurol 75:259-264, Herv�,D., et al, 2010
Clinicopath Conf, Rapid-Onset-Dystonia-Parkinsonism Due to a Mutation in the ATP1A3 Gene
NEJM 362:2213-2219, Case 17-2010, 2010