The Genetic Causes of Basal Ganglia Calcification, Dementia, and Bone Cysts
Neurol 64:1502-1507, Klunemann,H.H.,et al, 2005
Pallidal Stimulation Improves Pantothenate Kinase-Associated Neurodegeneration
Ann Neurol 57:738-741,613, Castelnau,P.,et al, 2005
Malignant Hyperthermia, Update on Susceptibility Testing
JAMA 293:2918-2924,2958, Litman,R.S.&Rosenberg,H., 2005
Phaeochromocytoma
Lancet 366:665-675, Lenders,J.W.M.,et al, 2005
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
CADASIL: Cerebral Autosomal Subcortical Infarcts and Leukoecephalopathy
, Chabriat, H., Joutel A., Vahedi, K., Tournier-Lasserve, &E., Bousser M.G., 2004
Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL)
Pract Neurology 4:50-55, Razvi,S.S.M. &Muir,K.W., 2004
Clinical Correlations of Mutations in the SCN1A Gene: From Febrile Seizures to Severe Myoclonic Epilepsy in Infancy
Pediatr Neurol 30:236-243, Ceulemans,B.P.G.M.,et al, 2004
Multiminicore Disease in a Family Susceptible to Malignant Hyperthermia: Histology, In Vitro Contracture Tests, and Genetic Characterization
Arch Neurol 61:106-113, Guis,S.,et al, 2004
Gene Transfer for Neurologic Disease
Neurol 63:2225-2232, Mendell,J.R. &Miller,A., 2004
Clinical and Molecular Findings in Patients with Giant Axonal Neuropathy (GAN)
Neurol 62:13-16, Bruno,C.,et al, 2004
Infantile Bilateral Striatal Necrosis Maps to Chromosome 19q
Neurol 62:87-90, Basel-Vanagaite,L.,et al, 2004
The Parkinsonian Phenotype of Spinocerebellar Ataxia Type 2
Arch Neurol 61:35-38, Lu,C.,et al, 2004
Penetrance of the Fragile X-Associated Tremor/Ataxia Syndrome in a Premutation Carrier Population
JAMA 291:460-469, Jacquemont,S.,et al, 2004
Charcot-Marie-Tooth Disease:Extensive Cranial Nerve Involvement on CT and MR Imaging
AJNR 25:494-497, Aho,T.R.,et al, 2004
Practice Parameter:Diagnostic Assessment of the Child with Cerebral Palsy
Neurol 62:851-863, Ashwal,S.,et al, 2004
Developmental Dyslexia
Lancet 363:1451-60, Demonet,J-F.,et al, 2004
Aromatic L-Amino Acid Decarboxylase Deficiency
Neurol 62:1058-1065, Pons,R.,et al, 2004
Parkinson's Disease
Lancet 363:1783-1793, Samii,A.,et al, 2004
Functional Brain Changes in Presymptomatic Hunington's Disease
Ann Neurol 55:879-883, Reading,S.A.,et al, 2004
Recurrent Acroparaesthesia During Febrile Infections
Lancet 363:1698, Bodamer,O.A.,et al, 2004
Familial Multiple Sclerosis and Other Inherited Disorders of the White Matter
The Neurologist 10:201-215, Kalman,B. &Leist,T.P., 2004
Myostatin Mutation Associated with Gross Muscle Hypertrophy in a Child
NEJM 350:2682-2688,2642, Schuelke,M.,et al, 2004
Hereditary Spastic Paraplegia
Arch Neurol 61:849-855,830, Orlacchio,A.,et al, 2004
Impact of Presymptomatic Genetic Testing for Hereditary Ataxia and Neuromuscular Disorders
Arch Neurol 61:875-880, Smith,C.O.,et al, 2004
Neurological Sequelae in Twins Born After Assisted Conception: Controlled National Cohort Study
BMJ 329:311-314, Pinborg,A.,et al, 2004
Pathogenetic Mechanisms of Parkin in Parkinson's Disease
Lancet 364:722-724, Hattori,N. &Mizuno,Y., 2004
Bilateral Extraocular Muscle Atrophy in Myotonic Dystrophy Type 1
Neurol 63:759-760, Yamashita,T.,et al, 2004
The Occurence of Guillain-Barre Syndrome Within Families
Neurol 63:1747-1750, Geleijns,K.,et al, 2004
Natural History of Nonketotic Hyperglycinemia in 65 Patients
Neurol 63:1847-1853, Hoover-Fong,J.E.,et al, 2004
Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
NEJM 348:33-40, Hayflick,S.J.,et al, 2003
Hereditary Infantile Hemiparesis, Retinal Arteriolar Tortuosity, and Leukoencephalopathy
Neurol 60:57-63,8, Vahedi,K.,et al, 2003
Treatment of Sporadic Hemiplegic Migraine with Calcium-Channel Blocker Verapamil
Neurol 60:120-121, Yu,W. &Horowitz,S.H., 2003
Primary Brain Tumours in Adults
Lancet 361:323-331, Behin,A.,et al, 2003
Prenatal Diagnosis Requests for Huntington's Disease when the Father is at Risk, and Does Not Want to Know His Genetic Status: Clinical, Legal, and Ethical Viewpoints
BMJ 326:331-333, Tassicker,R.,et al, 2003
Practice Parameter: Evaluation of the Child with Global Developmental Delay
Neurol 60:367-380, Shevell,M.,et al, 2003
Myotonic Dystrophy Type 2
Neurol 60:657-664, Day,J.W.,et al, 2003
Insights Into the Diagnosis and Treatment of Lysosomal Storage Diseases
Arch Neurol 60:322-328, Wegner,D.A.,et al, 2003
Von Recklinghausen's Neurofibromatosis: Neurofibromatosis Type 1
Lancet 361:1552-1554, Reynolds,R.M., et al, 2003
Association of Multidrug Resistance in Epilepsy with a Polymorphism in the Drug-Transporter Gene ABCB1
NEJM 348:1442-1448,1480, Siddiqui,A.,et al, 2003
Alzheimer's Disease and Parkinson's Disease
NEJM 348:1356-1364, Nussbaum,R.L. &Ellis,C.E., 2003
Variable Presentation of Brugada Syndrome: Lessons from Three Generations with Syncope
BMJ 326:1078-1079, Plunkett,A.,et al, 2003
Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
Neurol 60:1413-1417, Pearl,P.L.,et al, 2003
von Hippel-Lindau Disease
Lancet 361:2059-2067, Lonser,R.R.,et al, 2003
Kennedy Disease
Arch Neurol 60:893-894, Paparounas,K.,et al, 2003
Autosomal Dominant Acute Necrotizing Encephalopathy
Neurol 61:226-230, Neilson,D.E.,et al, 2003
Mental Retardation
Neurol 61:156-157, Patterson,M.C. &Zoghbi,H.Y., 2003
The Hereditary Spastic Paraplegias
Arch Neurol 60:1045-1049, Fink,J.K., 2003
Learning Disability
Lancet 362:811-821, Gillberg,C.&Soderstrom,H., 2003