GAMT Deficiency: Features, Treatment, and Outcome in an Inborn Error of Creatine Synthesis
Neurol 67:480-484, Mercimek-Mahmutoglu,S.,et al, 2006
Late-Onset Metachromatic Leukodystrophy: Genotype Strongly Influences Phenotype
Neurol 67:859-863, Rauschka,H.,et al, 2006
Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
Brain 129:1674-1684, Horvath, R.,et al, 2006
Mitochondrial DNA Polymerase-y and Human Disease
Hum Mol Genet 15:R244-R252, Hudson, G.,et al, 2006
Glycogen-Storage Disease Type II
eMedicine, May 2, Ibrahim,J. &McGovern,M., 2006
The Clinical Spectrum of Neuralgic Amyotrophy in 246 cases
Brain 129:438-450, Alfen, N.V. & Baziel, G.M., 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
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
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
Central Nervous System Involvement in Hereditary Neuropathy With Liability to Pressure Palsies
Arch Neurol 62:1911-1914, Sanahuja,J.,et al, 2005
Neuroblastoma -- from Genetic Profiles to Clinical Challenge
NEJM 353:2215-2217, Kushner,B.H. &Cheung,N.-K.V., 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
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
Internuclear Ophthalmoplegia
Arch Neurol 62:714-717, Keane,J.R., 2005
Proton MR Spectroscopy in Wilson Disease: Analysis of 36 Cases
AJNR 26:1066-1071, Lucato,L.T.,et al, 2005
Malignant Hyperthermia, Update on Susceptibility Testing
JAMA 293:2918-2924,2958, Litman,R.S.&Rosenberg,H., 2005
Vertebrobasilar Disease
NEJM 352:2618-2626, Savitz,S.I.&Caplan,L.R., 2005
Practice Parameter:Therapies for Essential Tremor
Neurol 64:2008-2020, Zesiewicz,T.A.,et al, 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
Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL)
Pract Neurology 4:50-55, Razvi,S.S.M. &Muir,K.W., 2004
CADASIL: Cerebral Autosomal Subcortical Infarcts and Leukoecephalopathy
, Chabriat, H., Joutel A., Vahedi, K., Tournier-Lasserve, &E., Bousser M.G., 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
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
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
The Parkinsonian Phenotype of Spinocerebellar Ataxia Type 2
Arch Neurol 61:35-38, Lu,C.,et al, 2004
Migrainous Vertigo Presenting as Episodic Positional Vertigo
Neurol 62:469-472, vonBrevern,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
Neurobrucellosis:Clinical and Neuroimaging Correlation
AJNR 25:395-401, Al-Sous,M.W.,et al, 2004
Internuclear Ophthalmoplegia as an Isolated or Predominant Symptom of Brainstem Infarction
Neurol 62:1491-1496, Kim,J.S., 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
Radiosurgery for Cerebral Arteriovenous Malformations in Hereditary Hemorrhagic Telangiectasia
Neurol 63:367-369, Maarouf,M.,et al, 2004