The Hot Cross Bun Sign in the Patients with Spinocerebellar Ataxia
Eur J Neurol 16:513-516, Lee, Y.-C.,et al, 2009
Aicardi-Gouti�res Syndrome
Br Med Bull 89:183-201, Orcesi, S.,et al, 2009
Decoding Cryptogenic Cardioembolism
Ann Neurol 64:364-365, Meschia,J.F., 2008
Overview of Phenylketonuria
UptoDate (May), Bodamer,O.A., 2008
Update on Blepharospasm: Report from the BEBRF International Workshop
Neurol 71:1275-1282, Hallett,M.,et al, 2008
MR Imaging of Familial Creutzfeldt-Jakob Disease: A Blinded and Controlled Study
AJNR 29:1638-1643, Fulbright,R.K.,et al, 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
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
Psychogenic Tremor Occurring After Deep Brain Stimulation Surgery for Essential Tremor
Neurol 70:1498-1499, McKeon,A.,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
Neurofibromatosis
JAMA 300:352, Torpy,J.M.,et al., 2008
Tuberous Sclerosis
Lancet 372:657-658, Curatolo,P.,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
Biochemical Markers in Persons With Preclinical Familial Alzheimer Disease
Neurol 71:85-92,78, Ringman,J.M.,et al., 2008
Downbeat Nystagmus: Aetiology and Comorbidity in 117 Patients
JNNP 79:672-677, Wagner,J.N.,et al, 2008
Klein-Levin Syndrome: A Systematic Study of 108 Patients
Ann Neurol 63:482-492, Arnulf,I.,et al, 2008
Seizures on Hearing the Alarm Clock
Lancet 370:2172, Vollmar,C.,et al, 2007
Phenylketonuria
eMedicine (December), Arnold,G.L., 2007
Clinical Update:Diagnosis and Treatment of Essential Tremor
Lancet 369:1152-1154, Benito-Leon,J&Louis,E.D., 2007
Pulmonary Arteriovenous Malformations in Hereditary Hemorrhagic Telangiectasia: A Series of 126 Patients
Medicine 86:1-7, Cottin,V.,et al, 2007
Wilson Disease: Description of 282 Patients Evaluated Over 3 Decades
Medicine 86:112-121, Taly,A.B., 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
Paroxysmal Extreme Pain Disorder (Previously Familial Rectal Pain Syndrome)
Neurol 69:586-595, Fertleman,C.R.,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
Variability of Age at Onset in Siblings With Familial Alzheimer Disease
Arch Neurol 64:1743-1748, G�mez-Tortosa,E.,et al, 2007
A Genetic Risk Factor for Periodic Limb Movements in Sleep
NEJM 357:639-647, Stefansson,H.,et al, 2007
Parental Transmission of MS in a Population-Based Canadian Cohort
Neurol 69:1208-1212,1202, Herrera,B.M.,et al, 2007
Deep Brain Stimulation
Neurologist 13:237-252, Kem,DS. &Kumar,R., 2007
Angelman Syndrome Revisited
Neurologist 13:305-312, Paprocka,J.,et al, 2007
Differential Diagnosis of Bilateral Thalamic Lesions
Clin Neuroradiol 17:3-22, Linn,J.,et al, 2007
Primary Episodic Ataxias:Diagnosis, Pathogenesis and Treatment
Brain 130:2484-2493, Jen, J.C.,et al, 2007
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
The Clinical Spectrum of Neuralgic Amyotrophy in 246 cases
Brain 129:438-450, Alfen, N.V. & Baziel, G.M., 2006
Glycogen-Storage Disease Type II
eMedicine, May 2, Ibrahim,J. &McGovern,M., 2006
CNS Involvement in Hereditary Neuropathy With Pressure Palsies (HNPP)
Neurol 67:2250-2252, Tackenberg,B.,et al, 2006
Common Misdiagnosis of a Common Neurological Disorder: How Are We Misdiagnosing Essential Tremor?
Arch Neurol 63:1100-1104, Jain,S.,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
Genetics of Parkinsons Disease and Parkinsonism
Ann Neurol 60:389-398, Hardy,J.,et al, 2006