Autonomic Peripheral Neuropathy
Lancet 365:1259-1270, Freeman,R., 2005
Progressive Myoclonic Epilepsies: A Review of Genetic and Therapeutic Aspects
Lancet Neurol 4:239-248, Shahwan, A., et al, 2005
Adrenoleukodystrophy
JAMA 294:3131-3134, Moser,H.W.,et al, 2005
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
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
Hereditary Motor and Sensory Neuropathies
Peripheral Neuropathy, Dyck,P.J. & Thomas,P.K. (Ed). Elsevier Publ, Vol 2, Ch 69: 1623-1635, Shy,M.E., et al, 2005
Neuroblastoma -- from Genetic Profiles to Clinical Challenge
NEJM 353:2215-2217, Kushner,B.H. &Cheung,N.-K.V., 2005
Spectrum of Mutations in Biopsy-Proven CADASIL: Implications for Diagnostic Strategies
Arch Neurol 62:1091-1094, Peters,N.,et al, 2005
Neurologic Features of Horizontal Gaze Palsy and Progressive Scoliosis with Mutations in ROBO3
Neurol 64:1196-1203, Bosley, T.M.,et al, 2005
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
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
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
Transmissible Spongiform Encephalopathies
Lancet 363:51-61, Collins,S.J.,et al, 2004
The Parkinsonian Phenotype of Spinocerebellar Ataxia Type 2
Arch Neurol 61:35-38, Lu,C.,et al, 2004
Tissue Distribution of Bovine Spongiform Encephalopathy Agent in Primates after Intravenous or Oral Infection
Lancet 363:422-428,411, Herzog,C.,et al, 2004
Possible Transmission of Variant Creutzfeldt-Jakob Disease by Blood Transfusion
Lancet 363:417-421,411, Llewelyn,C.A.,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
Prion Deposition in Olfactory Biopsy of Sporadic Creutzfeldt-Jakob Disease
Ann Neurol 55:294-296, Tabaton,M.,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
Developmental Dyslexia
Lancet 363:1451-60, Demonet,J-F.,et al, 2004
Parkinson's Disease
Lancet 363:1783-1793, Samii,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
Novel Methods for Disinfection of Prion-Contaminated Medical Devices
Lancet 364:521-526, Fichet,G.,et al, 2004
Preclinical vCJD After Blood Transfusion in a PRNP Codon 129 Heterozygous Patient
Lancet 364:527-529, Peden,A.H.,et al, 2004
Pathogenetic Mechanisms of Parkin in Parkinson's Disease
Lancet 364:722-724, Hattori,N. &Mizuno,Y., 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
Repeated Screening for Intracranial Aneurysms in Familial Subarachnoid Hemorrhage
Stroke 34:2788-2791, Wermer,M.J.H.,et al, 2003
The Clinicopathological Spectrum of Rosenthal Fibre Encephalopathy and Alexanders Disease: A Case Report and Review of the Literature
JNNP 74:807-810, Jacob,J.,et al, 2003
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
Detection of Pathologic Prion Protein in the Olfactory Epithelium in Sporadic Creutzfeldt-Jakob Disease
NEJM 348:711-719,681, Zanusso,G.,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