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
Twinning and Cerebral Palsy:Experience in Four Northern California Counties, Births 1983 Through 1985
Pediatrics 92:854-858, Grether,J.K.,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
The Motor Disorder of Multiple System Atrophy
JNNP 56:1239-1242, Quinn,N.P.&Marsden,C.D., 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
Clinicopath Conf
Acquired Demyelinating Neuropathy, ? CIDP, ? Motor Neuropathy with Multifocal Conduction Blocks, Cas, 41-1EJM 329:1182-1190,1993., 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
Clinicopath Conf
progressive Supranuclear Palsy, Case 46-1993, NEJM 329:1560-1567993., , 1993
Correlation of Evoked Potential and MRI Findings in Wilson's Disease
Neurol 43:2059-2064, Selwa,L.M.,et al, 1993
The Mutations at nt 8993 of Mitochondrial DNA is a Common Cause of Leigh's Syndrome
Ann Neurol 34:827-834, Santorelli,F.M.,et al, 1993
The Pathogenesis of Superficial Siderosis of the Central Nervous System
Ann Neurol 34:646-653, 635-6361993., Koeppen,A.H.,et al, 1993
A Neurological Gene Map
Arch Neurol 50:1269-1271, Rosenberg,R.N., 1993
Validity of Family History Data on Severe Headache and Migraine
Neurol 43:1954-1960, Ottman,R.,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
Twin Birth is Not a Risk Factor for Seizures
Neurol 43:2515-2519, Berkovic,S.F.,et al, 1993
Serum anti-GQ1b IgG antibody is Associated with Ophthalmoplegia in Miller Fisher Syndrome and Guillain-Barre Syndrome: Clinical and Immunohistochemical Studies
Neurol 43:1911-1917, Chiba, A.,et al, 1993
Cockayne Syndrome: Review of 140 Cases
Am J Med Genet 42:68-84, Nance,M.A. &Berry,S.A., 1992
Primary Lateral Sclerosis, Clin Features, Neuropath & Dx Criteria
Brain 115:495-520, Pringle,C.E.,et al, 1992
Disappearance of Kayser-Fleischer Rings Following Liver Transplantation
Transplant Proc 24:1483-1485, Song,H.S.,et al, 1992
Atypical MR Presentation of Wilson Disease:A Possible Consequence of Paramagnetic Effect of Copper
Neuroradiology 34:222-224, Brugieres,P.,et al, 1992
HIV Encephalopathy and Dementia
Psychiatr Clin North Am 15:455-466, Pajeau,A.K.&Roman,G.C., 1992
Occurrence of MS-Like Illness in Women Who Have a Leber's Hereditary Optic Neuropathy Mitochondrial DNA Mutation
Brain 115:979-989, Harding,A.E.,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
Analysis of the Prion Protein Gene in Thalamic Dementia
Neurol 42:1859-1863, Petersen,R.B.,et al, 1992
Familial Alzheimer's Disease:Second Gene Locus Located, Markers for Familial Disease May be Available
BMJ 305:1108-1109, Mullan,M., 1992
Intramedullary Cavernous Angiomas of the Spinal Cord:Clinical, Path, & Surgical Manag
Neurosurgery 31:219-230, Ogilvy,C.S.,et al, 1992
Central Nervous System Lesions in von Hippel-Lindau Syndrome
JNNP 55:898-901, Neumann,H.P.H.,et al, 1992
Isolated Granulomatous Angiitis of the Spinal Cord
Ann Neurol 32:580-582, Caccamo,D.V.&Garcia,J.H., 1992
Acute Quadriplegia in Acromegaly
Ann Int Med 117:94-95, Tanigawa,K.,et al, 1992
Twinning and Neurologic Morbisity
Am J Dis Child 146:1110-1113, Scheller,J.M.&Nelson,K.B., 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
Prenatal Diagnosis of Wilson's Disease by Analysis of DNA Polymorphism
NEJM 327:57, Cossu,P.,et al, 1992
Unstable DNA Sequence in Myotonic Dystrophy
Lancet 339:1125-1128, Harley,H.G.,et al, 1992
Phenotypic Expression of the Myotonic Dystrophy Gene in Monozygotic Twins
Neurol 42:1815-1817, Dubel,J.R.,et al, 1992
Familial Inclusion Body Myositis:Evidence for Autosomal Dominant Inheritance
Neurol 42:897-902, Nevile,H.E.,et al, 1992
Girls with Fragile X Syndrome:Physical and Neurocognitive Status and Outcome
Pediatrics 89:395-400, Hagerman,R.J.,et al, 1992
Clinicopath Conf
Metastatic Malignant Melanoma, "Encephalitic"Form, in Leptomeninges and Cerebral Cortex, Case 28-199, , NE27:107-116,1992., 1992
Parkinson's Disease in Twins
Neurol 42:1453-1461, Vieregge,P.,et al, 1992
Olfactory Function in Essential Tremor
Neurol 42:1631-1632, Busenbark,K.L.,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