Mitochondrial DNA Polymerase-y and Human Disease
Hum Mol Genet 15:R244-R252, Hudson, G.,et al, 2006
Dopamine-Responsive Dystonia
eMedicine (Apr), Nikhar,N.K., 2006
Glycogen-Storage Disease Type II
eMedicine, May 2, Ibrahim,J. &McGovern,M., 2006
Clinical Spectrum of Mutations in SCN1A Gene: Severe Myoclonic Epilepsy in Infancy and Related Epilepsies
Epilepsy Res 70S:S223-S230, Fujiwara,T., 2006
Epilepsy Syndromes in Infancy
Pediatr Neurol 34:253-263, Korff,C.M. &Nordii,D.R.,Jr., 2006
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
Heritability of Carotid Artery Atherosclerotic Lesions
Stroke 36:5-8, Moskau,S.,et al, 2005
Phaeochromocytoma
Lancet 366:665-675, Lenders,J.W.M.,et al, 2005
NT-3 Promotes Nerve Regeneration and Sensory Improvement in CMT1A Mouse Models and in Patients
Neurol 65:681-689, 662, Sahenk,Z.,et al, 2005
Quality of Life in Patients with Charcot-Marie-Tooth Disease
Neurol 65:922-924, Vinci,P.,et al, 2005
Intracranial Hemorrhage Complicating Acute Stroke: How Common is Hemorrhagic Stroke on Initial Head CT Scan and How Often Is Initial Clinical Diagnosis of Acute Stroke Eventually Confirmed?
AJNR 26:2207-2212, Mullins,M.E.,et al, 2005
Hereditary Motor and Sensory Neuropathies
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Central Nervous System Involvement in Hereditary Neuropathy With Liability to Pressure Palsies
Arch Neurol 62:1911-1914, Sanahuja,J.,et al, 2005
Global Prevalence of Dementia: A Delphi Consensus Study
Lancet 366:2112-2117, Ferri,C.P.,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
Sensorineural Hearing Loss in Children
Lancet 365:879-890, Smith, R.J.H.,et al, 2005
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
Autonomic Dysfunction in Machado-Joseph Disease
Arch Neurol 62:630-636, Yeh,T-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
The Genetic Causes of Basal Ganglia Calcification, Dementia, and Bone Cysts
Neurol 64:1502-1507, Klunemann,H.H.,et al, 2005
Brain Magnetic Resonance Imaging Findings in Patients with Mitochondrial Cytopathies
Arch Neurol 62:737-742, Barragan-Campos,H.M.,et al, 2005
Malignant Hyperthermia, Update on Susceptibility Testing
JAMA 293:2918-2924,2958, Litman,R.S.&Rosenberg,H., 2005
Practice Parameter:Therapies for Essential Tremor
Neurol 64:2008-2020, Zesiewicz,T.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
Clinical and Molecular Findings in Patients with Giant Axonal Neuropathy (GAN)
Neurol 62:13-16, Bruno,C.,et al, 2004
Clinical Spectrum of Episodic Ataxia Type 2
Neurol 62:17-22, Jen,J.,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
Charcot-Marie-Tooth Disease:Extensive Cranial Nerve Involvement on CT and MR Imaging
AJNR 25:494-497, Aho,T.R.,et al, 2004
Neurobrucellosis:Clinical and Neuroimaging Correlation
AJNR 25:395-401, Al-Sous,M.W.,et al, 2004
Developmental Dyslexia
Lancet 363:1451-60, Demonet,J-F.,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
Fish Consumption and Incidence of Stroke
Stroke 35:1538-1542, He,K.,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
Recent Developments in Thyroid Eye Disease
BMJ 329:385-390, Cawood,T.,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
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