Gene Therapy for Duchenne Dystrophy
Ann Neurol 34:3-4, Engel,A.G., 1993
Myoblast Transfer in Duchenne Muscular Dystrophy
Ann Neurol 34:8-18, Karpati,G.,et al, 1993
Tibial Muscular Dystrophy
Arch Neurol 50:604-608, Udd,B.,et al, 1993
Molecular Genetic Heterogeneity of Myophosphorylase Deficiency (McArdle's Disease)
NEJM 329:241-245, Tsujino,S.,et al, 1993
Brief Report:Deletion of the Dystrophin Muscle-Promoter Region Associated with X-Linked Dilated Cardiomyopathy
NEJM 329:921-925, 9601993., Muntoni,F.,et al, 1993
Hereditary Motor-Sensory Neuropathy (Charcot-Marie-Tooth Disease) with Nerve Deafness:A New Variant
J Pediatr 123:431-434, Hamiel,O.P.,et al, 1993
Charcot-Marie-Tooth Disease Type 1A:Association with a Spontaneous Point Mutation in the PMP22 Gene
NEJM 329:96-101, Roa,B.B.,et al, 1993
Molecular Genetic Characterization of an X-Linked Form of Leigh's Syndrome
Ann Neurol 33:652-655, Matthews,P.M.,et al, 1993
Hyperkalemic Periodic Paralysis:Rapid Molecular Diag & Rela of Genotype to Phenotype in 12 Families
Neurol 43:668-673, Feero,W.G.,et al, 1993
Leber's Hereditary Optic Neuropathy as a Cause of Severe Visual Loss in Childhood
Pediatrics 91:988-989, Moorman,C.M.&Elston,J.S., 1993
Atypical Leber's Hereditary Optic Neuropathy with Molecular Confiramtion
Arch Neurol 50:470-473, Weiner,N.C.,et al, 1993
Leber's Hereditary Optic Neuropathy, New Genetic Considerations
Arch Neurol 50:540-548, Newman,N.J., 1993
Identical Twins with Similar Onset of Parkinson's Disease:A Case Report
Neurol 43:1159-1161, Pahwa,R.,et al, 1993
Seizure Characteristics in Chromosome 20 Benign Familial Neonatal Convulsions
Neurol 43:1355-1360, Ronen,G.M.,et al, 1993
Rapid Fragile X Carrier Screening and Prenatal Diagnosis Using a Nonradioactive PCR Test
JAMA 270:1569-1575, Brown,W.,et al, 1993
Tay-Sachs Disease-Carrier Screening, Prenatal Diagnosis, and the Molecular Era
JAMA 270:2307-2315, Kaback,M.,et al, 1993
X-Chromosome Effects on Female Brain:A Magnetic Resonance Imaging Study of Turner's Syndrome
Lancet 342:1197-1200, Murphy,D.G.M.,et al, 1993
Choroido-Cerebral Calcification Syndrome with Retardation
Neurol 43:2387-2389, Singh,B.,et al, 1993
Autosomal Dominant Parkinsoniam with Benign Course and Typical Lewy-Body Pathology
Neurol 43:2222-2227, Golbe,L.I.,et al, 1993
DNA Diagnosis of Neurofibromatosis 2:Altered Coding Sequence of the Merlin Tumor Suppressor in an Extended Pedigree
JAMA 270:2316-2320, MacCollin,M.,et al, 1993
Inherited Primary Peripheral Neuropathies
JAMA 270:2326, 23301993., Lupski,J.R.,et al, 1993
Lissencephaly:A Human Brain Malformation Associated with Deletion of the LIS1 Gene Located at Chromosome 17p13
JAMA 270:2838-2842, Dobyns,W.B.,et al, 1993
Miller-Dieker Syndrome:Detection of a Cryptic Chromosome Translocation Using in Situ Hybridization in a Family
Am J Dis Child 147:1291-1294, Alvarado,M.,et al, 1993
Copper-Histidine Therapy for Menkes Disease
J Pediatr 123:828-830, Sarkar,B.,et al, 1993
Progr Myoclonus Epilepsy of Unverricht-Lundborg Type:Clin & Molecular Genetic Study from US 4 Affected Sibs
Neurol 43:2284-2286, Lehesjoki,A.E.,et al, 1993
Pheochromocytomas, Multiple Endocrine Neoplasia Type 2, and Von Hippel-Lindau Disease
NEJM 329:1531-1538, Neumann,H.P.H.,et al, 1993
Magnetic Resonance Imaging in Hereditary and Idiopathic Ataxia
Neurol 43:318-325, Wullner,U.,et al, 1993
Central Nervous System Lesions in von Hippel-Lindau Syndrome
JNNP 55:898-901, Neumann,H.P.H.,et al, 1992
Multiple Sclerosis in 54 Twinships:Concordance Rate is Independent of Zygosity
French Res. Gr. of MS, Ann Neurol 32:724-727, 7222., , 1992
Familial Multiple Sclerosis:MRI Findings in Clinically Affected and Unaffected Siblings
JNNP 55:883-886, Teinari,P.J.,et al, 1992
Genetic Susceptibility to Multiple Sclerosis Linked to Myelin Basic Protein Gene
Lancet 340:987-991, Tienari,P.J.,et al, 1992
Intracranial Aneurysms in Autosom Dominant Polycystic Kidney Disease
NEJM 327:916-920, 9531992., Chapman,A.B.,et al, 1992
Juvenile Myoclonic Epilepsy, Underdiagnosed and Treatment May Have to be Life Long
BMJ 305:4-5, Timmings,P.L.&Richens,A., 1992
Detection of Full Fragile X Mutation
Lancet 339:271-272, Pergolizzi,R.G.,et al, 1992
Familial Inclusion Body Myositis:Evidence for Autosomal Dominant Inheritance
Neurol 42:897-902, Nevile,H.E.,et al, 1992
The Biology of Developmental Dyslexia
JAMA 268:912-915, Rumsey,J.M., 1992
Causal Heterogeneity in Isolated Lissencephaly
Neurol 42:1375-1388, Dobyns,W.B.,et al, 1992
Population Screening for Fragile X
Lancet 339:1210-1213, Turner,G.,et al, 1992
GM1 Gangliosidosis in Adults:Clinical and Molecular Analysis of 16 Japanese Patients
Ann Neurol 31:328-332, Yoshida,K.,et al, 1992
Girls with Fragile X Syndrome:Physical and Neurocognitive Status and Outcome
Pediatrics 89:395-400, Hagerman,R.J.,et al, 1992
Cerebromeningeal Haemophagocytic Lymphohistiocytosis
Lancet 239:104-107, Henter,J.&Elinder,G., 1992
Clinicopath Conf
Emery-Dreifus Muscular Dystrophy, NEJM 327:548-5571992., , 1992
Intrafamilial Heterogeneity in Hereditary Motor Neuron Disease
Neurol 42:1488-1492, Applebaum,J.S.,et al, 1992
Duplication of Part of Chromosome 17 is Commonly Associated with HMSN Type I (Charcot-Marie-Tooth Disease Type 1)
Ann Neurol 31:570-572, Hallam,P.J.,et al, 1992
De-Novo Mutation in Hereditary Motor and Sensory Neuropathy Type I
Lancet 339:1081-1082, Hoogendijk,J.E.,et al, 1992
Werdnig-Hoffman Disease & Chronic Distal Spinal Muscular Atrophy with Apparent Autosomal Dom Inherit
Ann Neurol 32:404-407, Boylan,K.B.&Cornblath,D.R., 1992
Genetic Diagnosis of Gaucher's Disease
Lancet 339:889-892, Mistry,P.K.,et al, 1992
Parkinson's Disease in Twins
Neurol 42:1453-1461, Vieregge,P.,et al, 1992
Fatal Familial Insomnia, A Prion Disease with a Mutation at Codon 178 of the Prion Protein Gene
NEJM 326:444-449, Medori,R.,et al, 1992
Fatal Familial Insomnia:Clinical and Pathologic Study of Five New Cases
Neurol 42:312-319, Manetto,V.,et al, 1992