Alexander Disease, Ventricular Garlands and Abnormalities of the Medulla and Spinal Cord
Neurol 66:494-498,468, van der Knaap,M.S.,et al, 2006
Familial Dopa-Responsive Cervical Dystonia
Neurol 66:599-601, Schneider,S.A.,et al, 2006
Metabolic Disease and Stroke: MELAS
emedicine.com, Mandava,P.,et al, 2006
Benign Tremulous Parkinsonism
Arch Neurol 63:354-357,321, Josephs,K.A.,et al, 2006
The Association of CAG Repeat Length with Clinical Progression in Huntington Disease
Neurol 66:1016-1020, Rosenblatt,A.,et al, 2006
Role of COL4A1 in Small-Vessel Disease and Hemorrhagic Stroke
NEJM 354:1489-1496, Gould,D.B.,et al, 2006
Brain Magnetic Resonance Imaging in Patients with Cowden Syndrome
Medicine 84:129-136, Lok,C.,et al, 2005
Psychosocial Impact of Screening for Intracranial Aneurysms in Relatives with Familial Subarachnoid Hemorrhage
Stroke 36:836-840, Wermer,M.J.H.,et al, 2005
The Clinical and Genetic Spectrum of Spinocerebellar Ataxia 14
Neurol 64:1258-1260, Chen,D-H.,et al, 2005
Value of Gradient-Echo Magnetic REsonance Imaging in the Diagnosis of Familial Cerebral Cavernous Malformation
Arch Neurol 62:653-658, Lehnhardt,F-G.,et al, 2005
Autonomic Peripheral Neuropathy
Lancet 365:1259-1270, Freeman,R., 2005
Clinicopath Conf, Neurofibromatosis Type 1, with Multiple Spinal Neurofibromas
NEJM 352:1800-1808, Case 13-2005, 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
Heritability of Carotid Artery Atherosclerotic Lesions
Stroke 36:5-8, Moskau,S.,et al, 2005
Migraine and Cerebral White Matter Lesions
The Neurologist 11:19-29, Gladstone,J.P. &Dodick,D.W., 2005
A Variant in the HS1-BP3 Gene is Associated with Familial Essential Tremor
Neurol 64:417-421, Higgins, J.J., et al, 2005
Genetic Screening for a Single Common LRRK2 Mutation in Familial Parkinson's Disease
Lancet 365:410-412, Nichols, W.C., et al, 2005
Genetic Factors in Alzheimer's Disease
NEJM 352: 862-863, 884, Bird, T., 2005
Fatal Avian Influenza A (H5N1) in a Child Presenting with Diarrhea Followed by Coma
NEJM 352:686-691, de Jong,M.D., et al, 2005
Unusual Variants of Alexander's Disease
Ann Neurol 57:327-338, van der Knaap,M.S., et al, 2005
Sensorineural Hearing Loss in Children
Lancet 365:879-890, Smith, R.J.H.,et al, 2005
Spectrum of Mutations in Biopsy-Proven CADASIL: Implications for Diagnostic Strategies
Arch Neurol 62:1091-1094, Peters,N.,et al, 2005
Adrenoleukodystrophy
JAMA 294:3131-3134, Moser,H.W.,et al, 2005
Hereditary Motor and Sensory Neuropathies
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Late-Onset Friedreich Ataxia
Arch Neurol 62:1865-1869, Bhidayasiri,R.,et al, 2005
Neuroblastoma -- from Genetic Profiles to Clinical Challenge
NEJM 353:2215-2217, Kushner,B.H. &Cheung,N.-K.V., 2005
Progressive Myoclonic Epilepsies: A Review of Genetic and Therapeutic Aspects
Lancet Neurol 4:239-248, Shahwan, A., 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
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
CADASIL: Cerebral Autosomal Subcortical Infarcts and Leukoecephalopathy
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Gene Transfer for Neurologic Disease
Neurol 63:2225-2232, Mendell,J.R. &Miller,A., 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
Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL)
Pract Neurology 4:50-55, Razvi,S.S.M. &Muir,K.W., 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
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
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