Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991
CNS Involvement at the Onset of Primary Hemophagocytic Lymphohistiocytosis
Neurol 78:1150-1156, Deiva,K.,et al, 2012
Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
Brain 133:655-670, Leen,W.G., et al, 2010
Clinical Spectrum of Ataxia-Telangiectasia in Adulthood
Neurol 73:430-437, Verhagen,M.M.M.,et al, 2009
The Expanding Phenotype of GLUT1-Deficiency Syndrome
Brain & Dev 31:545-552, Brockmann,K., 2009
Chromosome 20 Ring:A Chromosomal Disorder Associated with a Particular Electroclinical Pattern
Epilepsia 39:942-951, Canevini,M.P.,et al, 1998
Angelman Syndrome: Clinical Profile
J Child Neurol 7:270-280, Zori,R.T.,et al, 1992
Cesarean Section Before Onset of Labor & Motor Function in Infants with Meningomyelocele Diag Antenatally
NEJM 324:662-666, 6901991., Luthy,D.S.,et al, 1991
A 50-Year-Old Man with Ataxia, Dystonia, and Abnormal Ocular Movements
Neurol 103:e210046, Panigrahi,B.,et al, 2024
Genetic Factors in Alzheimer's Disease:A Review of Recent Advances
Ann Neurol 40:829-840, Levy-Lahad,E.&Bird,T.D., 1996
Confirmation of Linkage of Oculopharyngeal Muscular Dystrophy to Chromosome 14q11. 2-q13
Ann Neurol 40:801-804, Stajich,J.M.,et al, 1996
Clinical Genetics in Neurological Disease
JNNP 57:7-15, MacMillan,J.C.&Harper,P.S., 1994
DNA Analysis in Finnish Patients with Hereditary Neuropathy with Liability to Pressure Palsies (HNPP)
JNNP 57:1260-1262, Silander,K.,et al, 1994
Molecular Genetic Advances in Fragile X Syndrome
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Recent Progress Toward Understanding the Molecular Biology of Von Recklinghausen Neurofibromatosis
Ann Neurol 31:555-561, Gutmann,D.H.&Collins,F.S., 1992
Startle Disease, or Hyperrekplexia:Clonazepam and Assign of Gene (STHE) to Chromosoma 5q by Linkage Analysis
Ann Neurol 31:663-668, Ryan,S.G.,et al, 1992
Detecting Susceptibility to Malignant Hyperthermia
BMJ 304:791-792, Ellis,F.R., 1992
De-Novo Mutation in Hereditary Motor and Sensory Neuropathy Type I
Lancet 339:1081-1082, Hoogendijk,J.E.,et al, 1992
Causal Heterogeneity in Isolated Lissencephaly
Neurol 42:1375-1388, Dobyns,W.B.,et al, 1992
Genetic Susceptibility to Multiple Sclerosis Linked to Myelin Basic Protein Gene
Lancet 340:987-991, Tienari,P.J.,et al, 1992
Predictive Testing for Wilson's Disease Using Tightly Linked and Flanking DNA Markers
Neurol 41:992-999, Farrer,L.A.,et al, 1991
Linkage of a Gene Causing Familial ALS to Chromosome 21 & Evidence of Genetic-Locus Heterogeneity
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Dystonia Gene in Ashkenazi Jewish Population is Located on Chromosome 9q32-34
Ann Neurol 27:114-120, Kramer,P.L.,et al, 1990
The Triumph of Linkage Analysis, Editorial
Ann Neurol 27:111-113, Rosenberg,R.N., 1990
Mapping of Acute (Type 1) Spinal Muscular Atrophy to Chromosome 5q12-q14
Lancet 336:271-273, Melki,J.,et al, 1990
Spinal Muscular Atrophies
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Genetic Linkage of Hereditary Motor & SensoryNeuro Type I (Charcot-Marie-Tooth Disease) to Chrom 1 & 17
Neurol 40:1450-1453, Defesche,J.C.,et al, 1990
Predisposing Locus for Alzheimer's Disease on Chromosome 21
Lancet 1:352-355, Goate,A.M.,et al, 1989
Homing in on Wilson's Disease
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Neurofibromatosis 2 (Bilateral Acoustic Neuro-fibromatosis)
NEJM 318:684-688, Martuza,R.L.&Eldridge,R., 1988
Neurofibromatosis 2:Clinical & DNA Linkage Studies of a Large Kindred
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Genetic Markers for Neurofibromatosis
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The Molecular Genetic Revolution, Its Impact on Clinical Neurology
Arch Neurol 45:1366-1376, Payne,C.S.&Roses,A.D., 1988
Genetic Linkage in Neurologic Diseases
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Alzheimer's Disease
Down's Syndrome, & Chromosome 21, Editorial, Lancet 1:1011-1012., , 1987
Hereditary Motor & Sensory Neuropathy, X-Linked:A Half Century Follow-Up
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