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Results: 1-25/101
MUTATIONS IN A GENE ENCODING A NOVEL PROTEIN-TYROSINE-PHOSPHATASE CAUSE PROGRESSIVE MYOCLONUS EPILEPSY
Authors: MINASSIAN BA LEE JR HERBRICK JA HUIZENGA J SODER S MUNGALL AJ DUNHAM I GARDNER R FONG CG CARPENTER S JARDIM L SATISHCHANDRA P ANDERMANN E SNEAD OC LOPESCENDES I TSUI LC DELGADOESCUETA AV ROULEAU GA SCHERER SW
Citation: Ba. Minassian et al., MUTATIONS IN A GENE ENCODING A NOVEL PROTEIN-TYROSINE-PHOSPHATASE CAUSE PROGRESSIVE MYOCLONUS EPILEPSY, Nature genetics, 20(2), 1998, pp. 171-174
THE CANDIDATE INTERVAL FOR PERIPHERAL NEUROPATHY WITH OR WITHOUT AGENESIS OF THE CORPUS-CALLOSUM MAPS TO A 1 CM REGION ON CHROMOSOME 15Q
Authors: HOWARD HC DUBE MP PREVOST C LOPESCENDES I CASAUBON LK MELANSON M ANDERMANN E ANDERMANN F BOUCHARD JP MATHIEU J ROULEAU GA
Citation: Hc. Howard et al., THE CANDIDATE INTERVAL FOR PERIPHERAL NEUROPATHY WITH OR WITHOUT AGENESIS OF THE CORPUS-CALLOSUM MAPS TO A 1 CM REGION ON CHROMOSOME 15Q, European journal of human genetics, 6, 1998, pp. 4191-4191
HUMAN DOUBLECORTIN (DCX) AND THE HOMOLOGOUS GENE IN MOUSE ENCODE A PUTATIVE CA2-DEPENDENT SIGNALING PROTEIN WHICH IS MUTATED IN HUMAN X-LINKED NEURONAL MIGRATION DEFECTS()
Authors: SOSSEYALAOUI K HARTUNG AJ GUERRINI R MANCHESTER DK POSAR A PUCHEMIRA A ANDERMANN E DOBYNS WB SRIVASTAVA AK
Citation: K. Sosseyalaoui et al., HUMAN DOUBLECORTIN (DCX) AND THE HOMOLOGOUS GENE IN MOUSE ENCODE A PUTATIVE CA2-DEPENDENT SIGNALING PROTEIN WHICH IS MUTATED IN HUMAN X-LINKED NEURONAL MIGRATION DEFECTS(), Human molecular genetics (Print), 7(8), 1998, pp. 1327-1332
MUTATIONS IN THE PALMITOYL-PROTEIN THIOESTERASE GENE (PPT, CLN1) CAUSING JUVENILE NEURONAL CEROID-LIPOFUSCINOSIS WITH GRANULAR OSMIOPHILIC DEPOSITS (VOL 7, PG 291, 1998)
Authors: MITCHISON HN HOFMANN SL BECERRA CHR MUNROE PB LAKE BD CROW YJ STEPHENSON JBP WILLIAMS RE HOFMAN IL TASCHNER PEM MARTIN JJ PHILIPPART M ANDERMANN E ANDERMANN F MOLE SE GARDINER RM ORAWE AM
Citation: Hn. Mitchison et al., MUTATIONS IN THE PALMITOYL-PROTEIN THIOESTERASE GENE (PPT, CLN1) CAUSING JUVENILE NEURONAL CEROID-LIPOFUSCINOSIS WITH GRANULAR OSMIOPHILIC DEPOSITS (VOL 7, PG 291, 1998), Human molecular genetics, 7(4), 1998, pp. 765-765
MUTATIONS IN THE PALMITOYL-PROTEIN THIOESTERASE GENE (PPT, CLN1) CAUSING JUVENILE NEURONAL CEROID-LIPOFUSCINOSIS WITH GRANULAR OSMIOPHILIC DEPOSITS
Authors: MITCHISON HM HOFMANN SL BECERRA CHR MUNROE PB LAKE BD CROW YJ STEPHENSON JBP WILLIAMS RE HOFMAN IL TASCHNER PEM MARTIN JJ PHILIPPART M ANDERMANN E ANDERMANN F MOLE SE GARDINER RM ORAWE AM
Citation: Hm. Mitchison et al., MUTATIONS IN THE PALMITOYL-PROTEIN THIOESTERASE GENE (PPT, CLN1) CAUSING JUVENILE NEURONAL CEROID-LIPOFUSCINOSIS WITH GRANULAR OSMIOPHILIC DEPOSITS, Human molecular genetics, 7(2), 1998, pp. 291-297
ANTICIPATION IN FAMILIAR CAVERNOUS ANGIOMAS
Authors: SIEGEL AM BADHWAR A ANDERMANN F ROULEAU GA HESS K ANDERMANN E
Citation: Am. Siegel et al., ANTICIPATION IN FAMILIAR CAVERNOUS ANGIOMAS, Annals of neurology, 44(3), 1998, pp. 58-58
4 FAMILIES WITH AN AUTOSOMAL-DOMINANT PARTIAL EPILEPSY SYNDROME WITH FRONTAL OR TEMPORAL FOCI
Authors: PANDOLFO M LABUDA M XIONG L STHILAIRE JM BERKOVIC S SCHEFFER I DESBIENS R VERRET S LANGEVIN P PATRY G ANDERMANN F ANDERMANN E
Citation: M. Pandolfo et al., 4 FAMILIES WITH AN AUTOSOMAL-DOMINANT PARTIAL EPILEPSY SYNDROME WITH FRONTAL OR TEMPORAL FOCI, Annals of neurology, 44(3), 1998, pp. 103-103
ANTICIPATION IN FAMILIAL CAVERNOUS ANGIOMA - A STUDY OF 52 FAMILIES FROM INTERNATIONAL FAMILIAL CAVERNOUS ANGIOMA STUDY
Authors: SIEGEL AM ANDERMANN E BADHWAR A ROULEAU GA WOLFORD GL ANDERMANN F HESS K
Citation: Am. Siegel et al., ANTICIPATION IN FAMILIAL CAVERNOUS ANGIOMA - A STUDY OF 52 FAMILIES FROM INTERNATIONAL FAMILIAL CAVERNOUS ANGIOMA STUDY, Lancet, 352(9141), 1998, pp. 1676-1677
SURGICAL-TREATMENT SF EPILEPSY IN TUBEROUS SCLEROSIS - STRATEGIES ANDRESULTS IN 18 PATIENTS
Authors: GUERREIRO MM ANDERMANN F ANDERMANN E PALMINI A HWANG P HOFFMAN HJ OTSUBO H BASTOS A DUBEAU F SNIPES GJ OLIVIER A RASMUSSEN T
Citation: Mm. Guerreiro et al., SURGICAL-TREATMENT SF EPILEPSY IN TUBEROUS SCLEROSIS - STRATEGIES ANDRESULTS IN 18 PATIENTS, Neurology, 51(5), 1998, pp. 1263-1269
NOCTURNAL TEMPORAL-LOBE EPILEPSY
Authors: BERNASCONI A ANDERMANN F CENDES F DUBEAU F ANDERMANN E OLIVIER A
Citation: A. Bernasconi et al., NOCTURNAL TEMPORAL-LOBE EPILEPSY, Neurology, 50(6), 1998, pp. 1772-1777
FAMILIAL PERISYLVIAN POLYMICROGYRIA
Authors: GUERREIRO M ANDERMANN E GUERRINI R DOBYNS W SILVER K AMBROSETTO G VANBOGAERT P ROSATI A GILLAIN C DAVID P BARTOLOMEI F PARMEGGIANI FA BASTOS A PALMINI A ANDERMANN F
Citation: M. Guerreiro et al., FAMILIAL PERISYLVIAN POLYMICROGYRIA, Neurology, 50(4), 1998, pp. 14002-14002
PEDIGREE ANALYSIS OF FRENCH-CANADIAN FAMILIES WITH T14484C LEBERS HEREDITARY OPTIC NEUROPATHY
Authors: MACMILLAN C KIRKHAM T FU K ALLISON V ANDERMANN E CHITAYAT D FORTIER D GANS M HARE H QUERCIA N ZACKON D SHOUBRIDGE EA
Citation: C. Macmillan et al., PEDIGREE ANALYSIS OF FRENCH-CANADIAN FAMILIES WITH T14484C LEBERS HEREDITARY OPTIC NEUROPATHY, Neurology, 50(2), 1998, pp. 417-422
FAMILIAL TEMPORAL-LOBE EPILEPSY - A CLINICALLY HETEROGENEOUS SYNDROME
Authors: CENDES F LOPESCENDES I ANDERMANN E ANDERMANN F
Citation: F. Cendes et al., FAMILIAL TEMPORAL-LOBE EPILEPSY - A CLINICALLY HETEROGENEOUS SYNDROME, Neurology, 50(2), 1998, pp. 554-557
SPECTROSCOPIC IMAGING OF FRONTAL NEURONAL DYSFUNCTION IN HYPEREKPLEXIA
Authors: BERNASCONI A CENDES F SHOUBRIDGE EA ANDERMANN E LI LM ARNOLD DL ANDERMANN F
Citation: A. Bernasconi et al., SPECTROSCOPIC IMAGING OF FRONTAL NEURONAL DYSFUNCTION IN HYPEREKPLEXIA, Brain (Print), 121, 1998, pp. 1507-1512
NEUROPSYCHOLOGICAL, RISK INDICATORS IN RELATIVES OF GENERALIZED SEIZURE DISORDER PATIENTS
Authors: MIRSKY AF LEVAV M HERAULT J XIONG L SENI MH ANDERMANN E
Citation: Af. Mirsky et al., NEUROPSYCHOLOGICAL, RISK INDICATORS IN RELATIVES OF GENERALIZED SEIZURE DISORDER PATIENTS, Biological psychiatry, 43, 1998, pp. 198-198
NEUROPSYCHOLOGICAL RISK INDICATORS IN RELATIVES OF GENERALIZED SEIZURE DISORDER PATIENTS
Authors: MIRSKY AF LEVAV M HERAULT J XIONG L SENI MH ANDERMANN E
Citation: Af. Mirsky et al., NEUROPSYCHOLOGICAL RISK INDICATORS IN RELATIVES OF GENERALIZED SEIZURE DISORDER PATIENTS, Biological psychiatry, 43, 1998, pp. 218-218
AUTOSOMAL-DOMINANT NOCTURNAL FRONTAL-LOBE EPILEPSY - GENETIC-HETEROGENEITY AND EVIDENCE FOR A 2ND LOCUS AT 15Q24
Authors: PHILLIPS HA SCHEFFER IE CROSSLAND KM BHATIA KP FISH DR MARSDEN CD HOWELL SJL STEPHENSON JBP TOLMIE J PLAZZI G EEGOLOFSSON O SINGH R LOPESCENDES I ANDERMANN E ANDERMANN F BERKOVIC SF MULLEY JC
Citation: Ha. Phillips et al., AUTOSOMAL-DOMINANT NOCTURNAL FRONTAL-LOBE EPILEPSY - GENETIC-HETEROGENEITY AND EVIDENCE FOR A 2ND LOCUS AT 15Q24, American journal of human genetics, 63(4), 1998, pp. 1108-1116
UNSTABLE INSERTION IN THE 5'-FLANKING REGION OF THE CYSTATIN-B GENE IS THE MOST COMMON MUTATION IN PROGRESSIVE MYOCLONUS EPILEPSY TYPE-1, EPM1
Authors: LAFRENIERE RG ROCHEFORT DL CHRETIEN N ROMMENS JM COCHIUS JI KALVIAINEN R NOUSIAINEN U PATRY G FARRELL K SODERFELDT B FEDERICO A HALE BR COSSIO OH SORENSEN T POULIOT MA KMIEC T ULDALL P JANSZKY J PRANZATELLI MR ANDERMANN F ANDERMANN E ROULEAU GA
Citation: Rg. Lafreniere et al., UNSTABLE INSERTION IN THE 5'-FLANKING REGION OF THE CYSTATIN-B GENE IS THE MOST COMMON MUTATION IN PROGRESSIVE MYOCLONUS EPILEPSY TYPE-1, EPM1, Nature genetics, 15(3), 1997, pp. 298-302
THE FRIEDREICH ATAXIA GAA TRIPLET REPEAT - PREMUTATION AND NORMAL ALLELES
Authors: MONTERMINI L ANDERMANN E LABUDA M RICHTER A PANDOLFO M CAVALCANTI F PIANESE L IODICE L FARINA G MONTICELLI A TURANO M FILLA A DEMICHELE G COCOZZA S
Citation: L. Montermini et al., THE FRIEDREICH ATAXIA GAA TRIPLET REPEAT - PREMUTATION AND NORMAL ALLELES, Human molecular genetics, 6(8), 1997, pp. 1261-1266
LINKAGE AND PHYSICAL MAPPING OF X-LINKED LISSENCEPHALY SBH (XLIS) - AGENE CAUSING NEURONAL MIGRATION DEFECTS IN HUMAN BRAIN/
Authors: ROSS ME ALLEN KM SRIVASTAVA AK FEATHERSTONE T GLEESON JG HIRSCH B HARDING BN ANDERMANN E ABDULLAH R BERG M CZAPANSKYBIELMAN D FLANDERS DJ GUERRINI R MOTTE J MIRA AP SCHEFFER I BERKOVIC S SCARAVILLI F KING RA LEDBETTER DH SCHLESSINGER D DOBYNS WB WALSH CA
Citation: Me. Ross et al., LINKAGE AND PHYSICAL MAPPING OF X-LINKED LISSENCEPHALY SBH (XLIS) - AGENE CAUSING NEURONAL MIGRATION DEFECTS IN HUMAN BRAIN/, Human molecular genetics, 6(4), 1997, pp. 555-562
PHENOTYPIC VARIABILITY IN FRIEDREICH-ATAXIA - ROLE OF THE ASSOCIATED GAA TRIPLET REPEAT EXPANSION
Authors: MONTERMINI L RICHTER A MORGAN K JUSTICE CM JULIEN D CASTELLOTTI B MERCIER J POIRIER J CAPOZZOLI F BOUCHARD JP LEMIEUX B MATHIEU J VANASSE M SENI MH GRAHAM G ANDERMANN F ANDERMANN E MELANCON SB KEATS BJB DIDONATO S PANDOLFO M
Citation: L. Montermini et al., PHENOTYPIC VARIABILITY IN FRIEDREICH-ATAXIA - ROLE OF THE ASSOCIATED GAA TRIPLET REPEAT EXPANSION, Annals of neurology, 41(5), 1997, pp. 675-682
GT335 - AN EVOLUTIONARILY CONSERVED GENE-MAPPING TO THE EPM1 CANDIDATE REGION IN 21Q22.3
Authors: LAFRENIERE RG ROCHEFORT D KIBAR Z HAN FY FON EA DUBE MP KANG X BAIRD S KORNELUK R ANDERMANN F ANDERMANN E ROMMENS J ROULEAU GA
Citation: Rg. Lafreniere et al., GT335 - AN EVOLUTIONARILY CONSERVED GENE-MAPPING TO THE EPM1 CANDIDATE REGION IN 21Q22.3, Cytogenetics and cell genetics, 79(1-2), 1997, pp. 43-43
GENETIC-LINKAGE ANALYSIS OF A VARIANT OF JUVENILE-ONSET NEURONAL CEROID-LIPOFUSCINOSIS WITH GRANULAR OSMIOPHILIC DEPOSITS
Authors: ORAWE A MITCHISON HM WILLIAMS R WHEELER R ANDERMANN E ANDERMANN F HART YM MARTIN JJ PHILIPPART M STEPHENSON JBP GARDINER RM MOLE SE
Citation: A. Orawe et al., GENETIC-LINKAGE ANALYSIS OF A VARIANT OF JUVENILE-ONSET NEURONAL CEROID-LIPOFUSCINOSIS WITH GRANULAR OSMIOPHILIC DEPOSITS, Neuropediatrics, 28(1), 1997, pp. 21-22
PROGRESSIVE MYOCLONUS EPILEPSY IN YOUNG-ADULTS WITH NEUROPATHOLOGIC FEATURES OF ALZHEIMERS-DISEASE
Authors: MELANSON M NALBANTOGLU J BERKOVIC S MELMED C ANDERMANN E ROBERTS LJ CARPENTER S SNIPES GJ ANDERMANN F
Citation: M. Melanson et al., PROGRESSIVE MYOCLONUS EPILEPSY IN YOUNG-ADULTS WITH NEUROPATHOLOGIC FEATURES OF ALZHEIMERS-DISEASE, Neurology, 49(6), 1997, pp. 1732-1733
PAROXYSMAL KINESIGENIC CHOREOATHETOSIS - REPLY
Authors: WEIN T ANDERMANN F ANDERMANN E DUBEAU F KEENE D ROURKEFREW F SILVER K
Citation: T. Wein et al., PAROXYSMAL KINESIGENIC CHOREOATHETOSIS - REPLY, Neurology, 49(2), 1997, pp. 642-642
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