Hereditary Spastic Paraplegia
Arch Neurol 61:849-855,830, Orlacchio,A.,et al, 2004
Hyperhomocysteinemia, Low Folate and Vitamin B12 Concentrations, and Methylene Tetrahydrofolate Reductase Mutation in Cerebral Venous Thrombosis
Stroke 35:1790-1794, Cantu,C.,et al, 2004
Familial Leptomeningeal Amyloidosis With a Transthyretin Variant Asp18Gly Representing Repeated Subarachnoid Haemorrhages With Superficial Siderosis
JNNP 75:1463-1466, Jin,K.,et al, 2004
Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL)
Pract Neurology 4:50-55, Razvi,S.S.M. &Muir,K.W., 2004
Variable Presentation of Brugada Syndrome: Lessons from Three Generations with Syncope
BMJ 326:1078-1079, Plunkett,A.,et al, 2003
von Hippel-Lindau Disease
Lancet 361:2059-2067, Lonser,R.R.,et al, 2003
Can We Prevent Cerebral Palsy?
NEJM 349:1765-1769, Nelson,K.B., 2003
Identification of New Presenilin Gene Mutations in Early-Onset Familial Alzheimer Disease
Arch Neurol 60:1541-1544,1521, Tedde,A.,et al, 2003
Repeated Screening for Intracranial Aneurysms in Familial Subarachnoid Hemorrhage
Stroke 34:2788-2791, Wermer,M.J.H.,et al, 2003
Hereditary Infantile Hemiparesis, Retinal Arteriolar Tortuosity, and Leukoencephalopathy
Neurol 60:57-63,8, Vahedi,K.,et al, 2003
Primary Brain Tumours in Adults
Lancet 361:323-331, Behin,A.,et al, 2003
Insights Into the Diagnosis and Treatment of Lysosomal Storage Diseases
Arch Neurol 60:322-328, Wegner,D.A.,et al, 2003
New Players in the Genetics of Stroke
NEJM 347:1711-1712, Tournier-Lasserve,E., 2002
Subarachnoid Hemorrhage
Stroke 33:1321-1326, Kissela,B.M.,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
Spinocerebellar Ataxia Type 10 is Rare in Populations Other Than Mexicans
Neurol 58:983-984, Matsuura,T.,et al, 2002
A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002
Clinical Profile of Stroke in 900 Patients with Hypertrophic Cardiomyopathy
J Am Coll Cardiol 39:301-307, Maron,B.J.,et al, 2002
Clinical Spectrum of Chronic Acquired Demyelinating Polyneuropathies
Muscle & Nerve 24:311-324, Saperstein,D.S.,et al, 2001
Amyotrophic Lateral Sclerosis
NEJM 344:1688-1700, Rowland,L.P. & Shneider,N.A., 2001
Subclinical Dopaminergic Dysfunction in Asymptomatic Parkinson's Disease Patients' Relatives with a Decreased Sense of Smell
Ann Neurol 50:34-41, Berendse,H.W.,et al, 2001
Advances in the Genetics of Cerebrovascular Disease and Stroke
Neurol 56:997-1008, Hademenos,G.J.,et al, 2001
Inborn Errors of Metabolism as a Cause of Neurological Disease in Adults: An Approach to Investigation
JNNP 69: 5-12, Gray,R.G.F. et al, 2000
Family History and DNA Analysis in Patients With Suspected Huntington's Disease
JNNP 69:54-59, Siesling,S. et al, 2000
Presence of Diarrhea and Absence of Tendon Xanthomas in Patients With Cerebrotendinous Xanthomatosis
Arch Neurol 57:520-524, Verrips,A.,et al, 2000
Recommendations for the Management of Patients with Unruptured Intracranial Aneurysms
Stroke 31:2742-2750, Bederson,J.B.,et al, 2000
Familial Form of Intracranial Cavernous Angioma:MR Imaging Findings in 51 Families
Radiology 214:209-216, Brunereau,L.,et al, 2000
Risk of Subarachnoid Haemorrhage in First Degree Relatives of Patients with Subarachnoid Haemorrhage: Follow Up Study Based on National Registries in Denmark
BMJ 320:141-145, Gaist,D.,et al, 2000
Desmin Myopathy, a Skeletal Myopathy with Cardiomyopathy Caused by Mutations in the Desmin Gene
NEJM 342:770-780, Dalakas,M.C.,et al, 2000
Angiographic and Clinical Characteristics of Patients with Cerebral Arteriovenous Malformations Associated with Hereditary Hemorrhagic Telangiectasia
AJNR 21:1016-1020, Matsubara,S.,et al, 2000
Cardiac Dysfunction in Neuromuscular Diseases
The Neurologist 6:67-82, Pourmand,R., 2000
National Institutes of Health Consensus Conference: Tuberous Sclerosis Complex
Arch Neurol 57:662-665, Hyman,M.H.&Whittemore,V.H., 2000
Bicuspid Aortic Valve - A Silent Danger: Analysis of 50 Cases of Infective Endocarditis
Clin Inf Dis 30:336-341, Lamas, C.C. & Eykyn, S.J., 2000
Diagnosis and Treatment of Wilson's Disease
Semin Neurol 19:261-270, Brewer,G.J.,et al, 1999
MR Angiography as a Screening Tool for Intracranial Aneurysms:Feasibility, Test Characteristics, and Interobserver Agreement
AJR 173:1469-1475, Raaymakers,T.W.M.,et al, 1999
Autosomal Dominant Myofibrillar Myopathy with Arrhythmogenic Right Ventricular Cardiomyopathy Linked to Chromosome 10q
Ann Neurol 46:684-692,681, Melberg,A.,et al, 1999
New Developments in the Neurobiology of the Tuberous Sclerosis Complex
Neurol 53:1384-1390, Crino,P.B.&Henske,E.P., 1999
Altered Brain Activation in Cognitively Intact Individuals at High Risk for Alzheimer's Disease
Neurol 53:1391-1396, Smith,C.D.,et al, 1999
Aneurysms in Relatives of Patients with Subarachnoid Hemorrhage,Frequency and Risk Factors
Neurol 53:982-988, Raaymakers,T.W.M.&the MARS Study Group, 1999
Risks and Benefits of Screening for Intracranial Aneurysms in First-Degree Relatives of Patients with Sporadic Subarachnoid Hemorrhage
NEJM 341:1344-1350, The Magnetic Resonance Angiography in Relatives of, 1999
Familial Subarachnoid Hemorrhage, Outcome Study
Stroke 30:1099-1102, Ronkainen,A.,et al, 1999
MR Angiography and Surgery for Unruptured Familial Intracranial Aneurysms in Persons with a Family History of Cerebral Aneurysms
AJR 173:133-138, Brown,B.M.&Soldevilla,F., 1999
Should We Screen for Familial Intracranial Aneurysm?
Stroke 30:312-316, Crawley,F.,et al, 1999
Initial and Follow-up Screening for Aneurysms in Families with Familial Subarachnoid Hemorrhage
Neurol 51:1125-1130, Raaymakers,T.W.M.,et al, 1998
Sneddon's Syndrome:Neuro-Ophthalmologic Manifestations in a Possible Autosomal Recessive Pattern
Neurol 51:1185-1187, Rehany,U.,et al, 1998
The Phenotypic Spectrum of CADASIL:Clinical Findings in 102 Cases,
Ann Neurol 44:731-739,715, Dichgans,M.,et al, 1998
Factor V Leiden Mutation is a Risk Factor for Cerebral Venous Thrombosis,A Case-Control Study of 55 Patients
Stroke 29:2507-2510, Ludemann,P.,et al, 1998
Prader-Willi and Angelman Syndromes
Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998
Genetic Analysis Enables Definite and Rapid Diagnosis of Cerebrotendinous Xanthomatosis
Neurol 51:865-867, Chen,W.,et al, 1998
CADASIL in a North American Family:Clinical, Pathological, and Radiologic Findings
Neurol 51:844-849, Desmond,D.W.,et al, 1998