A 63-Year-Old Woman with Urinary Incontinence and Progressive Gait Disorder
Neurol 72:1607-1613, Lossos,A.,et al, 2009
Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, and KCNJ10 Mutations
NEJM 360:1960-1970, Bockenhauer,D.,et al, 2009
Clinicopath Conf., Atypical Hemolytic-Uremic Syndrome
NEJM 361:389-400, Case 23-2009, 2009
Disclosure of APOE Genotype for Risk of Alzheimers Disease
NEJM 361:245-254,298, Green,R.C.,et al, 2009
A Large-Scale International Meta-Analysis of Paraoxonase Gene Polymorphisms in Sporadic ALS
Neurol 73:16-24,11, Wills,A.-M.,et al, 2009
Parkinsons Disease
Lancet 373:2055-2066, Lees,A.J.,et al, 2009
Diagnosis and New Treatments in Muscular Dystrophies
JNNP 80:706-714, Manzur,A.Y. &Muntoni,F., 2009
Neurofibromatosis Type 2
Lancet 373:1974-1986, Astagiri,A.R.,et al, 2009
Clinical Spectrum of Ataxia-Telangiectasia in Adulthood
Neurol 73:430-437, Verhagen,M.M.M.,et al, 2009
Screening for Intracranial Aneurysms in ADPKD: A More Accurate Risk Assignment Model Is Needed
BMJ 339:706-707, Ong,A., 2009
Practice Parameter: Evaluation of the Child with Microcephaly (An Evidence-Based Review): Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society
Neurol 73:887-897, Ashwal,S.,et al, 2009
Aicardi-Gouti�res Syndrome
Br Med Bull 89:183-201, Orcesi, S.,et al, 2009
The Hot Cross Bun Sign in the Patients with Spinocerebellar Ataxia
Eur J Neurol 16:513-516, Lee, Y.-C.,et al, 2009
Decoding Cryptogenic Cardioembolism
Ann Neurol 64:364-365, Meschia,J.F., 2008
Familiality in Brain Tumors
Neurol 71:1015-1020, Blumenthal,D.T.&Cannon-Albright,L.A., 2008
Two Sets of Identical Twins with Cervical Artery Dissection Concordant for Temporal Artery Pathology
Neurol 71:1035-1037, V�lker,W.,et al, 2008
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
Neurol 71:925-929, Van Gerpen,J.A.,et al, 2008
Overview of Phenylketonuria
UptoDate (May), Bodamer,O.A., 2008
Neurofibromatosis
JAMA 300:352, Torpy,J.M.,et al., 2008
Tuberous Sclerosis
Lancet 372:657-658, Curatolo,P.,et al., 2008
SLC01B1 Variants and Statin-Induced Myopathy -- A Genomewide Study
NEJM 359:789-799, The SEARCH Collaborative Group, 2008
Update on Blepharospasm: Report from the BEBRF International Workshop
Neurol 71:1275-1282, Hallett,M.,et al, 2008
Extension of the Clinical Spectrum of Danon Disease
Neurol 70:1358-1359, van der Kooi,A.J.,et al, 2008
Tuberous Sclerosis Complex: A Tale of Two Genes
Neurol 70:904-905, Nass,R. &Crino,P.B., 2008
Nearly Completely Reversible Brain Abnormalities in a Patient With Incontinentia Pigmenti
AJNR 29:431-433, Lou,H.,et al, 2008
Autosomal Dominant Moyamoya Disease Maps to Chromosome 17q25.3
Neurol 70:2357-2363, Mineharu,Y.,et al, 2008
Spinal Muscular Atrophy
Lancet 371:2120-2133, Lunn,M.R. &Wang,C.H., 2008
Diagnosis and Etiology of Congenital Muscular Dystrophy
Neurol 71:312-321,308, Peat,R.A.,et al., 2008
Fragile X-Associated Tremor/Ataxia Syndrome: An Aging Face of the Fragile X Gene
Arch Neurol 65:19-25, Amiri,K.,et al, 2008
Genetics of Familial Amyotrophic Lateral Sclerosis
Neurol 70:144-152, Valdmanis,P.N. &Rouleau,G.A., 2008
a-Synuclein Gene Duplication Is Present in Sporadic Parkinson Disease
Neurol 70:43-49,7, Ahn,T.-B.,et al, 2008
A 23-Year-Old Man With Seizures and Visual Deficit
Neurol 70:73-78, Boustany,R.-M.,et al, 2008
Seizures on Hearing the Alarm Clock
Lancet 370:2172, Vollmar,C.,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
Pulmonary Arteriovenous Malformations in Hereditary Hemorrhagic Telangiectasia: A Series of 126 Patients
Medicine 86:1-7, Cottin,V.,et al, 2007
Adult-Onset Vanishing White Matter Leukoencephalopathy Presenting as Psychosis
Neurol 68:1538-1539, Denier,C.,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
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
Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts & Leukoencephalopathy (CADASIL)
UpToDate (www.uptodate.com) Aug 21, Dichgans,M.,et al., 2007
Phenylketonuria
eMedicine (December), Arnold,G.L., 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
Primary Episodic Ataxias:Diagnosis, Pathogenesis and Treatment
Brain 130:2484-2493, Jen, J.C.,et al, 2007
Dopamine-Responsive Dystonia
eMedicine (Apr), Nikhar,N.K., 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