A 51-Year-Old Woman with Abnormal Corups Callosum Signal
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GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy
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A 13-year-old boy with Chronic Ataxia and Developmental Delay
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Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
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Whole-Genome Sequencing in a Patient with Charcot-Marie-Tooth Neuropathy
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Genomewide Association Studies of Stroke
NEJM 360:1718-1728, Ikram,M.A.,et al, 2009
Autonomic Peripheral Neuropathy
Lancet 365:1259-1270, Freeman,R., 2005
Alzheimer's Disease and Parkinson's Disease
NEJM 348:1356-1364, Nussbaum,R.L. &Ellis,C.E., 2003
Patients with Multiple Sclerosis and Risk of Type 1 Diabetes Mellitus in Sardinia,Italy: A Cohort Study
Lancet 359:1461-1465,1450, Marrosu,M.G.,et al, 2002
Impact of the Human Genome Projects and Identification of a Stroke Gene
Stroke 32:1239-1241, Alberts,M.J., 2001
Incidence of Dominant Spinocerebellar and Friedreich Triplet Repeats Among 361 Ataxic Families
Neurol 51:1666-1671, Moseley,M.L.,et al, 1998
Spinocerebellar Ataxia Type 6, Molecular & Clin Features of 35 Japanese Pts (1 Homozygous for CAG Repeat Expan)
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Clinical and Subclinical Neurological Involvement in Children of Conjugal Multiple Sclerosis Patients
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Reduced GABA Synthesis in Pyridoxine-Dependent Seizures
Lancet 343:1133-1134, Gospe,S.M.,et al, 1994
Chronic Neurodegenerative Disease Associated with HTLV-II Infection
Lancet 339:645-646, Hjelle,B.,et al, 1992
Conjugal Multiple Sclerosis:A Clinical and Laboratory Study
Neurol 41:1320-1321, Finelli,P.F., 1991
Localization of Idiopathic Generalized Epilepsy on Chromosome 6p in Families of Juvenile Myoclonic epilepsy patients
Neurol 41:1651-1655, Durner,M.,et al, 1991
Screening for Prolonged Incubation of HTLV-1 in Relatives of British Patients with Tropical Spastic Paraparesis
BMJ 300:300-304, Cruickshank,J.K.,et al, 1990
Familial Patterns of Narcolepsy
lancet 2:1376-1379, Guilleminault,C.,et al, 1989
Genetic Factors in Myasthenia Gravis:A Family Study
Neurol 38:38-42, Kerzin-Storrar,L.,et al, 1988
Nerve-Growth Factor in Familial Dysautonomia
NEJM 295:671, Montalcini,R.L., 1976