The Nondystrophic Myotonias
In Myology, McGraw-Hill, 2nd Ed, Ch49, p1291-13024., Rudel,R.,et al, 1994
Pheochromocytomas, Multiple Endocrine Neoplasia Type 2, and Von Hippel-Lindau Disease
NEJM 329:1531-1538, Neumann,H.P.H.,et al, 1993
The Clinical Spectrum of Cerebral Amyloid Angiopathy:Presentations Without Lobar Hemorrhage
Neurol 43:2073-2079, Greengerg,S.M.,et al, 1993
Spastic Ataxia Associated with Human T-Cell Lymphotropic Virus Type II Infection
Ann Neurol 33:411-414, Harrington,W.J.,et al, 1993
Isolation of HTLV-II from Pt with Chronic, Prog Neurol Dis Clin Indistinguish from HAM/Tropical Spastic Paraparesis
Ann Neurol 33:392-396, Jacobson,S.,et al, 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
Correlation of Evoked Potential and MRI Findings in Wilson's Disease
Neurol 43:2059-2064, Selwa,L.M.,et al, 1993
The Neurologic Syndrome of Vitamin E Deficiency:A Significant Cause of Ataxia
Neurol 43:2167-2169, Kayden,H.J., 1993
Seizure Characteristics in Chromosome 20 Benign Familial Neonatal Convulsions
Neurol 43:1355-1360, Ronen,G.M.,et al, 1993
Werner's Syndrome Associated with Spastic Paraparesis and Peripheral Neuropathy
Neurol 43:1252-1254, Umehara,F.,et al, 1993
Migraine Madness:Recurrent Psychosis after Migraine
JNNP 56:416-418, Fuller,G.N.,et al, 1993
Successful Outcome of Progressive Multifocal Leukoencephalopathy with Cytarabine and Interferon
Ann Neurol 33:407-411, Steiger,M.J.,et al, 1993
Molecular Genetic Advances in Fragile X Syndrome
J Pediatr 122:169-185, Tarleton,J.C.&Saul,R.A., 1993
Aicardi's Syndrome:MR Appearance of Unusual Orbital and Ventricular Cystic Lesions
AJR 160:601-603, Mehta,r.C.,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
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
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
Molecular Genetics in Neurology
Ann Neurol 34:757-773, Martin,J.B., 1993
A Neurological Gene Map
Arch Neurol 50:1269-1271, Rosenberg,R.N., 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
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
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
Validity of Family History Data on Severe Headache and Migraine
Neurol 43:1954-1960, Ottman,R.,et al, 1993
Progressive Multifocal Leukoencephalopathy:Contrast Enhancement on CT Scans and MR Images
AJR 161:1049-1051, Wheeler,A.L.,et al, 1993
Twin Birth is Not a Risk Factor for Seizures
Neurol 43:2515-2519, Berkovic,S.F.,et al, 1993
Progressive Multifocal Leucoencephalopathy
Brit J Hosp Med 50:187-192, Sweeney,B.J.,et al, 1993
Ornithine Transcarbamylase Deficiency Presenting with Strokelike Episodes
J Pediatrics 122:423-425, Christodoulou,J.,et al, 1993
Acquired Ocular Visual Impairment in Children, 1960-1989
Am J Dis Child 147:325-328, Robinson,G.C.&Jan,J.E., 1993
A Clinicopathologic Study of 100 Cases of Parkinson's Disease
Arch Neurol 50:140-148, Hughes,A.J.,et al, 1993
X-Linked Adrenoleukodystrophy:Adult Cerebral Variant
Neurol 43:1518-1522, Farrell,D.F.,et al, 1993
A Two-Year Trial of Oleic and Erucic Acids ("Lorenzo's Oil") as Treatment for Adrenomyeloneuropathy
NEJM 329:745-752, 8011993., Aubourg,P.,et al, 1993
Familial Aggregation of Stroke
Stroke 24:1366-1371, Kiely,D.K.,et al, 1993
Clinical Consequences of Isolating the Gene for Huntington's Disease
BMJ 307:397-398, Harper,P.S., 1993