Age and High-Dose Methotrexate are Associated to Clinical Acute Encephalopathy in FRALLE 93 Trial for Acute Lymphoblastic Leukemia in Children
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The Clinical Spectrum of Neuralgic Amyotrophy in 246 cases
Brain 129:438-450, Alfen, N.V. & Baziel, G.M., 2006
Dopamine-Responsive Dystonia
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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
Fragile X Premutation With Atypical Symptoms at Onset
Arch Neurol 63:1135-1138, Cellini,E.,et al, 2006
Metabolic Disease and Stroke: MELAS
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Late-Onset Metachromatic Leukodystrophy: Genotype Strongly Influences Phenotype
Neurol 67:859-863, Rauschka,H.,et al, 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
The Clinical and Genetic Spectrum of Spinocerebellar Ataxia 14
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Autonomic Dysfunction in Machado-Joseph Disease
Arch Neurol 62:630-636, Yeh,T-H.,et al, 2005
Malignant Hyperthermia, Update on Susceptibility Testing
JAMA 293:2918-2924,2958, Litman,R.S.&Rosenberg,H., 2005
Progressive Myoclonic Epilepsies: A Review of Genetic and Therapeutic Aspects
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Impact of Presymptomatic Genetic Testing for Hereditary Ataxia and Neuromuscular Disorders
Arch Neurol 61:875-880, Smith,C.O.,et al, 2004
The Parkinsonian Phenotype of Spinocerebellar Ataxia Type 2
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Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
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Clinical Features and Neuropathology of Autosomal Dominant Spinocerebellar Ataxia (SCA17)
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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
The Hereditary Spastic Paraplegias
Arch Neurol 60:1045-1049, Fink,J.K., 2003
Spinocerebellar Ataxia Type 10 is Rare in Populations Other Than Mexicans
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Clinical Features and ATTCT Repeat Expansion in Spinocerebellar Ataxia Type 10
Arch Neurol 59:1285-1290, Grewal,R.P.,et al, 2002
Fragile X Premutation Carriers: Characteristic MR Imaging Findings of Adult Male Patients with Progressive Cerebellar and Cognitive Dysfunction.
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Clinical Profile of Stroke in 900 Patients with Hypertrophic Cardiomyopathy
J Am Coll Cardiol 39:301-307, Maron,B.J.,et al, 2002
Hypertrophic Cardiomyopathy A Systematic Review
JAMA 287:1308-1320, Maron, B.J., 2002
Genetic Testing in Spinocerebellar Ataxias
Arch Neurol 58:191-195, Tan,E. &Ashizawa,T., 2001
Gluten Sensitivity in Sporadic and Hereditary Cerebellar Ataxia
Ann Neurol 49:540-543, Bushara,K.O.,et al, 2001
The Clinical Spectrum of Familial Hemiplegic Migraine Associated with Mutations in a Neuronal Calcium Channel
NEJM 345:17-24,57, Ducros,A.,et al, 2001
Recessive Ataxia With Ocular Apraxia
Arch Neurol 58:201-205,173, Barbot,C.,et al, 2001
SCA-12: Tremor with Cerebellar and Cortical Atrophy is Associated with a CAG Repeat Expansion
Neruol 56:299-303,287, O'Hearn,E.,et al, 2001
Headache and CNS White Matter Abnormalities Associated with Gluten Sensitivity
Neurol 56:385-388, Hadjivassiliou,M.,et al, 2001
Spinocerebellar Ataxia Type 2 Presenting as Familial Levodopa-Responsive Parkinsonism
Ann Neurol 50:812-815, Shan,D.,et al, 2001
Evolution of Sporadic Olivopontocerebellar Atrophy Into Multiple System Atrophy
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Rotational Vertebral Artery Occlusion Syndrome with Vertigo Due to "Labyrinthine Excitation"
Neurol 54:1376-1379, Strupp,M.,et al, 2000
Spinocerebellar Ataxia Type 8
Neurol 55:649-657, Day,J.W. et al, 2000
Desmin Myopathy, a Skeletal Myopathy with Cardiomyopathy Caused by Mutations in the Desmin Gene
NEJM 342:770-780, Dalakas,M.C.,et al, 2000
Niemann-Pick Disease Type C: Two Cases and an Update
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A Locus for Paroxysmal Kinesigenic Dyskinesia Maps to Human Chromosome 16
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Familial Paroxysmal Dystonic Choreoathetosis,Clinical Findings in a Large Japanese Family and Genetic Linkage to 2q
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Autosomal Dominant Myofibrillar Myopathy with Arrhythmogenic Right Ventricular Cardiomyopathy Linked to Chromosome 10q
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Molecular Basis of the Neurodegenerative Disorders
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Clinical and MRI Findings in Spinocerebellar Ataxia Type 5
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N-Acetylcysteine Therapy for Unverricht-Lundborg Disease
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Ion Channel Diseases:Episodic Disorders of the Nervous System
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Distal Myopathies:Clinical and Molecular Diagnosis and Classification
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Cerebral Manifestation of Wilson's Disease Successfully Treated with Liver Transplantation
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CAG Repeat Number Correlates with the Rate of Brainstem and Cerebellar Atrophy in Machado-Joseph Disease
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Prader-Willi and Angelman Syndromes
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Incidence of Dominant Spinocerebellar and Friedreich Triplet Repeats Among 361 Ataxic Families
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