Diagnostic Value of Ultrastructural Skin Biopsy Studies in CADASIL
Neurol 68:1430-1432, Malandrini,A.,et al, 2007
Neuroimaging Findings in Human Prion Disease
JNNP 78:664-670, Macfarlane,R.G.,et al, 2007
Amyotrophic Lateral Sclerosis
Lancet 369:2031-2041, Mitchell,J.D. & Borasio,G.D., 2007
Safety and Tolerability of Gene Therapy With an Adeno-Associated Virus (AAV) Borne GAD gene for Parkinsons Disease: An Open Label, Phase I Trial
Lancet 369:2097-2105,2056, Kaplitt,M.G.,et al, 2007
Prothombotic Mutations as Risk Factors for Cryptogenic Ischemic Cerebrovascular Events in Young Subjects With Patent Foramen Ovale
Stroke 38:2070-2073, Botto,N.,et al, 2007
Paroxysmal Extreme Pain Disorder (Previously Familial Rectal Pain Syndrome)
Neurol 69:586-595, Fertleman,C.R.,et al, 2007
A Genetic Risk Factor for Periodic Limb Movements in Sleep
NEJM 357:639-647, Stefansson,H.,et al, 2007
Outcome in Adult Low-Grade Glioma: The Impact of Prognostic Factors and Treatment
Neurol 69:1366-1373, Schiff,D.,et al, 2007
Parental Transmission of MS in a Population-Based Canadian Cohort
Neurol 69:1208-1212,1202, Herrera,B.M.,et al, 2007
Angelman Syndrome Revisited
Neurologist 13:305-312, Paprocka,J.,et al, 2007
Gene Therapy for Duchenne Muscular Dystrophy: Expectations and Challenges
Arch Neurol 64:1236-1241, Rodino-Klapac,L.R.,et al, 2007
Clinicopath conf., Human Prion Disease, Sporadic CJD
Neurol 69:1881-1887, Geschwind,M.D., et al, 2007
Phenylketonuria
eMedicine (December), Arnold,G.L., 2007
Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts & Leukoencephalopathy (CADASIL)
UpToDate (www.uptodate.com) Aug 21, Dichgans,M.,et al., 2007
Primary Episodic Ataxias:Diagnosis, Pathogenesis and Treatment
Brain 130:2484-2493, Jen, J.C.,et al, 2007
Wolff-Parkinson-White Syndrome in Patients with MELAS
Arch Neurol 64:1625-1627, Sproule,D.M.,et al, 2007
Dopamine-Responsive Dystonia
eMedicine (Apr), Nikhar,N.K., 2006
Glycogen-Storage Disease Type II
eMedicine, May 2, Ibrahim,J. &McGovern,M., 2006
Alexander Disease, Ventricular Garlands and Abnormalities of the Medulla and Spinal Cord
Neurol 66:494-498,468, van der Knaap,M.S.,et al, 2006
Familial Dopa-Responsive Cervical Dystonia
Neurol 66:599-601, Schneider,S.A.,et al, 2006
Metabolic Disease and Stroke: MELAS
emedicine.com, Mandava,P.,et al, 2006
Benign Tremulous Parkinsonism
Arch Neurol 63:354-357,321, Josephs,K.A.,et al, 2006
Role of COL4A1 in Small-Vessel Disease and Hemorrhagic Stroke
NEJM 354:1489-1496, Gould,D.B.,et al, 2006
Neuropathology of the Neuroradiologist: Rosenthal Fibers
AJNR 27:958-961, Wippold,F., II,et al, 2006
Clinical Spectrum of Mutations in SCN1A Gene: Severe Myoclonic Epilepsy in Infancy and Related Epilepsies
Epilepsy Res 70S:S223-S230, Fujiwara,T., 2006
Epilepsy Syndromes in Infancy
Pediatr Neurol 34:253-263, Korff,C.M. &Nordii,D.R.,Jr., 2006
Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
Brain 129:1674-1684, Horvath, R.,et al, 2006
Mitochondrial DNA Polymerase-y and Human Disease
Hum Mol Genet 15:R244-R252, Hudson, G.,et al, 2006
Prevalence of Fabry Disease in Patients with Cryptogenic Stroke: A Prospective Study
Lancet 366:1794-1796,1754, Rolfs,A.,et al, 2006
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
Finding the Causes of Inherited Neuropathies
Arch Neurol 63:812-816, Scherer,S.S., 2006
Early Clinical Signs and Imaging Findings in Gerstmann-Straussler-Scheinker Syndrome (Pro102Leu)
Neurol 66:1672-1678, Arata,H.,et al, 2006
Kuru in the 21st Century--An Acquired Human Prion Disease With Very Long Incubation Periods
Lancet 367:2068-2074, Collinge,J.,et al, 2006
Onset of Creutzfeldt-Jakob Disease Mimicking an Acute Cerebrovascular Event
Neurol 67:538-539, Hohler,A.D. &Flynn,F.G., 2006
GAMT Deficiency: Features, Treatment, and Outcome in an Inborn Error of Creatine Synthesis
Neurol 67:480-484, Mercimek-Mahmutoglu,S.,et al, 2006
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
Dystonia
NEJM 355:818-829, Tarsy,D. &Simon,D.K., 2006
Collaborative Analysis of a-Synuclein Gene Promotor Variability and Parkinson Disease
JAMA 296:661-670, Maraganore,D.M.,et al, 2006
Restless Legs Syndrome: Is Treatable But Under-Recognised
BMJ 333:457-458, Medcalf,P. &Bhatia,K.P., 2006
Parkinsons Disease and Genetics
The Neurologist 12:240-244, Lester,J.&Otero-Siliceo,E., 2006
The Tuberous Sclerosis Complex
NEJM 355:1345-1356, Crino,P.B.,et al, 2006
Familial Cervical Artery Dissections: Clinical, Morphologic, and Genetic Studies
Stroke 37:2924-2929, Martin,J.J.,et al, 2006
Case 35-2006: A Newborn Boy with Hypotonia
NEJM 355:2132-2142, Brown,R.H.,et al, 2006
Genetics of Parkinsons Disease and Parkinsonism
Ann Neurol 60:389-398, Hardy,J.,et al, 2006
Prognosis of Migraine Headaches in Adolescents: A 10-Year Follow-Up Study
Neurol 67:1353-1356, Monastero,R.,et al, 2006
Clinical Presentation and Pre-Mortem Diagnosis of Variant Creutzfeldt-Jakob Disease Associated With Blood Transfusion: A Case Report
Lancet 368:2061-2067, Wroe,S.J.,et al, 2006
Adrenoleukodystrophy
JAMA 294:3131-3134, Moser,H.W.,et al, 2005
Clinicopath Conf, Prion Disease (Sporadic Creutzfeldt-Jakob Disease)
NEJM 353:1042-1050, Case 27-2005, 2005
Science and Ethics of Sham Surgery, A Survey of Parkinson Disease Clinical Researchers
Arch Neurol 62:1357-1360,1343, Kim,S.Y.H.,et al, 2005