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Results: 1-22 |
Results: 22
MOLECULAR FINDINGS IN 5 PATIENTS WITH LIPOMATOSIS
Authors: GOMEZZAERA M OLIVE M GENIS D CASADEMONT J ESTIVILL X NUNES V
Citation: M. Gomezzaera et al., MOLECULAR FINDINGS IN 5 PATIENTS WITH LIPOMATOSIS, European journal of human genetics, 6, 1998, pp. 6025-6025
UNCLONED EXPANDED CAG CTG REPEAT SEQUENCES IN AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA (ADCA) DETECTED BY THE REPEAT EXPANSION DETECTION (RED) METHOD/
Authors: PUJANA MA VOLPINI V GRATACOS M CORRAL J BANCHS I SANCHEZ A GENIS D CERVERA C ESTIVILL X
Citation: Ma. Pujana et al., UNCLONED EXPANDED CAG CTG REPEAT SEQUENCES IN AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA (ADCA) DETECTED BY THE REPEAT EXPANSION DETECTION (RED) METHOD/, Journal of Medical Genetics, 35(2), 1998, pp. 99-102
SPORADIC HETEROPLASMIC SINGLE 5.5 KB MITOCHONDRIAL-DNA DELETION ASSOCIATED WITH CEREBELLAR-ATAXIA, HYPOGONADOTROPIC HYPOGONADISM, CHOROIDALDYSTROPHY, AND MITOCHONDRIAL RESPIRATORY-CHAIN COMPLEX-I DEFICIENCY
Authors: BARRIENTOS A CASADEMONT J GENIS D CARDELLACH F FERNANDEZREAL JM GRAU JM URBANOMARQUEZ A ESTIVILL X NUNES V
Citation: A. Barrientos et al., SPORADIC HETEROPLASMIC SINGLE 5.5 KB MITOCHONDRIAL-DNA DELETION ASSOCIATED WITH CEREBELLAR-ATAXIA, HYPOGONADOTROPIC HYPOGONADISM, CHOROIDALDYSTROPHY, AND MITOCHONDRIAL RESPIRATORY-CHAIN COMPLEX-I DEFICIENCY, Human mutation, 10(3), 1997, pp. 212-216
POLYMORPHISMS AT 13 EXPRESSED HUMAN SEQUENCES CONTAINING CAG CTG REPEATS AND ANALYSIS IN AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA (ADCA) PATIENTS/
Authors: PUJANA MA GRATACOS M CORRAL J BANCHS I SANCHEZ A GENIS D CERVERA C VOLPINI V ESTIVILL X
Citation: Ma. Pujana et al., POLYMORPHISMS AT 13 EXPRESSED HUMAN SEQUENCES CONTAINING CAG CTG REPEATS AND ANALYSIS IN AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA (ADCA) PATIENTS/, Human genetics, 101(1), 1997, pp. 18-21
MACHADO-JOSEPH-DISEASE, SPINOPONTINE ATROPHY, AND SCA3
Authors: GENIS D VOLPINI V
Citation: D. Genis et V. Volpini, MACHADO-JOSEPH-DISEASE, SPINOPONTINE ATROPHY, AND SCA3, Neurology, 48(4), 1997, pp. 1137-1138
MOLECULAR ANALYSIS OF THE IT15 GENE IN 79 SPANISH HUNTINGTONS-DISEASEFAMILIES - CONFIRMATION OF DIAGNOSIS AND PRESYMPTOMATIC TESTING
Authors: SANCHEZ A MILA M CASTELLVIBEL S CALOPA M GENIS D JIMENEZ D ESTIVILL X
Citation: A. Sanchez et al., MOLECULAR ANALYSIS OF THE IT15 GENE IN 79 SPANISH HUNTINGTONS-DISEASEFAMILIES - CONFIRMATION OF DIAGNOSIS AND PRESYMPTOMATIC TESTING, Medicina Clinica, 108(18), 1997, pp. 687-690
WOLFRAM-SYNDROME - A NEUROPATHOLOGICAL STUDY
Authors: GENIS D DAVALOS A MOLINS A FERRER I
Citation: D. Genis et al., WOLFRAM-SYNDROME - A NEUROPATHOLOGICAL STUDY, Acta Neuropathologica, 93(4), 1997, pp. 426-429
COMMENTS ON PENTLAND AND DONALD
Authors: GENIS D BUSQUETS C
Citation: D. Genis et C. Busquets, COMMENTS ON PENTLAND AND DONALD, Pain, 64(2), 1996, pp. 402-403
EFFECT OF MALNUTRITION AFTER ACUTE STROKE ON CLINICAL OUTCOME
Authors: DAVALOS A RICART W GONZALEZHUIX F SOLER S MARRUGAT J MOLINS A SUNER R GENIS D
Citation: A. Davalos et al., EFFECT OF MALNUTRITION AFTER ACUTE STROKE ON CLINICAL OUTCOME, Stroke, 27(6), 1996, pp. 1028-1032
5.5 KB HETEROPLASMIC MITOCHONDRIAL-DNA DELETION IN A PATIENT WITH ATAXIA, HYPOGONADISM, AND CHOROID DYSTROPHY
Authors: CASADEMONT J BARRIENTOS A GENIS D ESTIVILL X URBANOMARQUEZ A NUNES V
Citation: J. Casademont et al., 5.5 KB HETEROPLASMIC MITOCHONDRIAL-DNA DELETION IN A PATIENT WITH ATAXIA, HYPOGONADISM, AND CHOROID DYSTROPHY, Neurology, 46(2), 1996, pp. 2104-2104
HUNTINGTONS-DISEASE - CONFIRMATION OF DIAGNOSIS AND PRESYMPTOMATIC TESTING IN SPANISH FAMILIES BY GENETIC-ANALYSIS
Authors: SANCHEZ A CASTELLVIBEL S MILA M GENIS D CALOPA M JIMENEZ D ESTIVILL X
Citation: A. Sanchez et al., HUNTINGTONS-DISEASE - CONFIRMATION OF DIAGNOSIS AND PRESYMPTOMATIC TESTING IN SPANISH FAMILIES BY GENETIC-ANALYSIS, Journal of Neurology, Neurosurgery and Psychiatry, 61(6), 1996, pp. 625-627
A NUCLEAR DEFECT IN THE 4P16 REGION PREDISPOSES TO MULTIPLE MITOCHONDRIAL-DNA DELETIONS IN FAMILIES WITH WOLFRAM-SYNDROME
Authors: BARRIENTOS A VOLPINI V CASADEMONT J GENIS D MANZANARES JM FERRER I CORRAL J CARDELLACH F URBANOMARQUEZ A ESTIVILL X NUNES V
Citation: A. Barrientos et al., A NUCLEAR DEFECT IN THE 4P16 REGION PREDISPOSES TO MULTIPLE MITOCHONDRIAL-DNA DELETIONS IN FAMILIES WITH WOLFRAM-SYNDROME, The Journal of clinical investigation, 97(7), 1996, pp. 1570-1576
OPTIMAL ORAL ANTICOAGULANT-THERAPY IN PATIENTS WITH NONRHEUMATIC ATRIAL-FIBRILLATION AND RECENT CEREBRAL-ISCHEMIA
Authors: KOUDSTAAL PJ VANLATUM JC VANGIJN J KAPPELLE LJ ALGRA A DEHAENE I DHOOGHE M MARCHAU M VANZANDIJCKE M DELWAIDE C DEPRE A LATERRE EC VANBUGGENHOUT E SCHURMANS J DESMET E SWERTS L VANDENABEELE G CARTON H VERDRU PMA INDEKEU PA LAM D VANDENBERGH V MOL L VANLANDEGEM W STRAUVEN T BOYSEN G GYRING J PETERSEN P WURTZENNIELSEN P CREPINLEBLOND T MOULIN T AURIACOMBE S ORGOGOZO JM BOULLIAT J GOAS JY MOCQUARD Y BESSON G HOMMEL M ADNETBONTE C JOSIEN E PETIT H CHEDRU F EVRARD S LEVASSEUR M MAS JL MEYNIARD O ZUBER M AMARENCO P BOUSSER MG ROULLET E PINEL JF MASSARDIER E MIHOUT B CHOLLET F RASCOL A AUTRET A SAUNDEAU D BUTTNER T NIEMCZYK W BOHM KD HORNIG C HACKE W HEISS C REUTHER R HAASS A STOLL M KRAMER G ROTHACHER G BAUER M BUSSE O KOCHROSE S MUEFFELMANN B DICHGANS J THOMAS C HENNEN OAD JORG J SCHWAN H SIEPEN R BORNSTEIN NM CENSORI B CERAVOLO M PROVINCIALI L DALESSANDRO G BOTTACCHI E CARENINI L DUC E FEDERICO F FIORE A LAMBERTI P LATTANZI P CAMERLINGO M CASTO L MAMOLI A BENEMIO G BOLDRINI F GATTESCHI C SCHILLACI G VERDECCHIA P VIGNAI E ARCELLI G BRAVI S COLI L GIRELLI L PURRO A DELFAVERO C GUIDOTTI M PELLEGRINI G SANTARONE M TADEO G BOTTINI G CANEPARI C STERZI R BINDA A CANDELISE L NADOR F PINARDI G OLIVA L MOMBELLONI A PONARI O SQUERI M BARZIZZA F CAVALLINI A MICIELI G NAPPI G RICHICHI I CASELLI P MORETTI E AISA G BOSCHETTI E CAPUTO N CELANI MG DELFAVERO A NENCI G RICCI S RIGHETTI E SENIN U BIOTTI M DETTORE M FABRIZI G GRASSELLI S PEZZELLA F ANTONUTTI L GRANDI FC GUERRINI D MARZALLI A PINAMONTI B SALVI R SAMMARTINI C DUDINE P MILONE FF VICENZI M TERBERG JWM GELMERS HJ HAAS JA LINDEBOOM SF HERDERSCHEE D HIJDRA A VERMEULEN M BERTELSMANN FW HAZENBERG GJ KOETSIER JC BERNTSEN PJIM GEBBINK TB SLEEGERS FM VANBEECK JA FEIKEMA WJ VANGASTEREN JHM VELTEMA AN VREDEVELD CJM CARBAAT PAT HERTZBERGER LI KLEYWEG RP BOON AM LIEUWENS WHG VISSCHER F ARTS WFM BOON A MOLL LCM PERQUIN WVM TANS JTJ TONK R DEWEERD AW HAAXMAREICHE H OOSTERHUIS HJGH SNOEK JW FRANKE CL MIRANDOLLE JF KOEHLER PJJ BRIET PE VANROSSUM J BOITEN J BOON AE LODDER J NIHOM J MAUSER HW FRENKEN CWGM POELS EFJ PRICK MJJ VERHAGEN WIM HOPPENBROUWERS WJJF STAAL A BENEDER PR BULENS C DEVRIESBOS LHP DECOUL AAWO LEYTEN ACM TIJSSEN CC SCHELLENS RLLA CILLESSEN JPM DRIESEN JJM VANOUDENAARDEN WF VERHEY JCB FRISVOLD OJ HOLE T SKOGEN OR ASLAKSEN B GALLEFOSS F LAAKE KO BERG LK BALSLIEMKE S RITLAND S HVEEM K DEHLI O ABILDGAARD U DAHL T WELUND B GONCALVES JAG PALMEIRO JF AMARAL R MACHADO C MESTRE A RIBEIRO F SOUSA L SALGADO AV BAPTISTA A CANDIDO JM MORGADO AV RAMIRES IMV CRESPO M FERRO JM FRANCO AS MELO TMP OLIVEIRA V LIMA AFB CORREIA MM LOPEZ JC MORGADO R SANTOS M GRAU G LOPEZ J MARTIN R MATIASGUIU J ALIO J CALOPA M MIRALLES F RUBIO F FUEYO J GOMEZ C MOLINA L DOLHABERRIAGUE L SOLERSINGLA L DAVALOS A GENIS D BASSAGANYAS J BARREIRO P DIEZTEJEDOR E FRANK A COSTA J MARES R LAINEZ L SANCHO J HENNERDAL KH RUDBACK N SAMUELSON M SIGFRIDSON P HEDENUS M BOGOUSSLAVSKY J GHIKA J MARIANI L NATER B SCHMID F KNIGHT R HAMILTON SJC KANE J BELL R FOOTE CK CASSIDY T GRAY CS SANDERCOCK PAG SELLAR R WARLOW CP HOWE JG MCGOURTY JC BAMFORD J JOHNSON M CASTLEDEN CM HARPER GD PANAYIOTOU BN ROBINSON T BARER D HUMPHREY P KAFETZ K MCELLIGOTT G BATES D CARTLIDGE NEF VENABLES GS MONRO P
Citation: Pj. Koudstaal et al., OPTIMAL ORAL ANTICOAGULANT-THERAPY IN PATIENTS WITH NONRHEUMATIC ATRIAL-FIBRILLATION AND RECENT CEREBRAL-ISCHEMIA, The New England journal of medicine, 333(1), 1995, pp. 5-10
CLINICAL, NEUROPATHOLOGIC, AND GENETIC-STUDIES OF A LARGE SPINOCEREBELLAR ATAXIA TYPE-1 (SCA1) KINDRED - (CAG)(N) EXPANSION AND EARLY PREMONITORY SIGNS AND SYMPTOMS
Authors: GENIS D MATILLA T VOLPINI V ROSELL J DAVALOS A FERRER I MOLINS A ESTIVILL X
Citation: D. Genis et al., CLINICAL, NEUROPATHOLOGIC, AND GENETIC-STUDIES OF A LARGE SPINOCEREBELLAR ATAXIA TYPE-1 (SCA1) KINDRED - (CAG)(N) EXPANSION AND EARLY PREMONITORY SIGNS AND SYMPTOMS, Neurology, 45(1), 1995, pp. 24-30
THE PURKINJE-CELL IN OLIVOPONTOCEREBELLAR ATROPHY - A GOLGI AND IMMUNOCYTOCHEMICAL STUDY
Authors: FERRER I GENIS D DAVALOS A BERNADO L SANT F SERRANO T
Citation: I. Ferrer et al., THE PURKINJE-CELL IN OLIVOPONTOCEREBELLAR ATROPHY - A GOLGI AND IMMUNOCYTOCHEMICAL STUDY, Neuropathology and applied neurobiology, 20(1), 1994, pp. 38-46
IRON-RELATED DAMAGE IN ACUTE ISCHEMIC STROKE
Authors: DAVALOS A FERNANDEZREAL JM RICART W SOLER S MOLINS A PLANAS E GENIS D
Citation: A. Davalos et al., IRON-RELATED DAMAGE IN ACUTE ISCHEMIC STROKE, Stroke, 25(8), 1994, pp. 1543-1546
IRON-RELATED DAMAGE IN ACUTE ISCHEMIC STROKE (VOL 25, PG 1543, 1994)
Authors: DAVALOS A FERNANDEZREAL JM RICART W SOLER S MOLINS A PLANAS E GENIS D
Citation: A. Davalos et al., IRON-RELATED DAMAGE IN ACUTE ISCHEMIC STROKE (VOL 25, PG 1543, 1994), Stroke, 25(11), 1994, pp. 2300-2300
IRON-RELATED DAMAGE IN ACUTE ISCHEMIC STROKE (VOL 25, PG 1543, 1994)
Authors: DAVALOS A FERNANDEZREAL JM RICART W SOLER S MOLINS A PLANAS E GENIS D
Citation: A. Davalos et al., IRON-RELATED DAMAGE IN ACUTE ISCHEMIC STROKE (VOL 25, PG 1543, 1994), Stroke, 25(11), 1994, pp. 2300-2300
TOPOGRAPHY, SIZE AND SHORT-TERM PROGNOSIS OF ISCHEMIC ACUTE STROKE INDIABETIC-PATIENTS
Authors: FERNANDEZREAL JM RICART W MOLINS A GENIS D DAVALOS A
Citation: Jm. Fernandezreal et al., TOPOGRAPHY, SIZE AND SHORT-TERM PROGNOSIS OF ISCHEMIC ACUTE STROKE INDIABETIC-PATIENTS, Diabetologia, 37, 1994, pp. 10000202-10000202
PRESYMPTOMATIC ANALYSIS OF SPINOCEREBELLAR ATAXIA TYPE-1 (SCA1) VIA THE EXPANSION OF THE SCA1 CAG-REPEAT IN A LARGE PEDIGREE DISPLAYING ANTICIPATION AND PARENTAL MALE BIAS
Authors: MATILLA T VOLPINI V GENIS D ROSELL J CORRAL J DAVALOS A MOLINS A ESTIVILL X
Citation: T. Matilla et al., PRESYMPTOMATIC ANALYSIS OF SPINOCEREBELLAR ATAXIA TYPE-1 (SCA1) VIA THE EXPANSION OF THE SCA1 CAG-REPEAT IN A LARGE PEDIGREE DISPLAYING ANTICIPATION AND PARENTAL MALE BIAS, Human molecular genetics, 2(12), 1993, pp. 2123-2128
SECONDARY PREVENTION IN NONRHEUMATIC ATRIAL-FIBRILLATION AFTER TRANSIENT ISCHEMIC ATTACK OR MINOR STROKE
Authors: KOUDSTAAL PJ DEHAENE I DHOOGHE M MARCHAU M VANZANDIJCKE M DELWAIDE C DEPRE A LATERRE EC VANBUGGENHOUT E SCHURMANS J DESMET E SWERTS L VANDENABEELE G CARTON H VERDRU PMA INDEKEU PA LAM D VANDENBERGH V VANLANDEGEM W STRAUVEN T BOYSEN G GYRING J PETERSEN P WURTZENNIELSEN P CREPINLEBLOND T MOULIN T AURIACOMBE S ORGOGOZO JM BOULLIAT J GOAS JY MOCQUARD Y BESSON G HOMMEL M ADNETBONTE C JOSIEN E CHEDRU F EVRARD S LEVASSEUR M MAS JL MEYNIARD O ZUBER M AMARENCO P BOUSSER MG ROULLET E PINEL JF MASSARDIER E MIHOUT B CHOLLET F RASCOL A AUTRET A SAUDEAU D BUTTNER T NIEMCZYK W BOHM KD HORNIG C HACKE W HEISS C REUTHER R HAASS A STOLL M KRAMER G ROTHACHER G BAUER M BUSSE O KOCHROSE S MUEFFELMANN B DICHGANS J THOMAS C HENNEN OAD JORG J SCHWAN H SIEPEN R BORNSTEIN NM CENSORI B CERAVOLO M PROVINCIALI L DALESSANDRO G BOTTACCHI E CARENINI L DUC E FEDERICO F FIORE A LAMBERTI P LATTANZI P CAMERLINGO M CASTO L MAMOLI A BENEMIO G BOLDRINI F GATTESCHI C SCHILLACI G VERDECCHIA P VIGNAI E ARCELLI G BRAVI S COLI L GIRELLI L PURRO A DELFAVERO C GUIDOTTI M PELLEGRINI G SANTARONE M TADEO G BOTTINI G CANEPARI C STERZI R BINDA A CANDELISE L NADOR F PINARDI G OLIVA L MOMBELLONI A PONARI O SQUERI M BARZIZZA F CAVALLINI A MICIELI G NAPPI G RICHICHI I CASELLI P MORETTI E AISA G BOSCHETTI E CAPUTO N CELANI MG DELFAVERO A NENCI G RICCI S RIGHETTI E SENIN U BIOTTI M DETTORE M FABRIZI G GRASSELLI S PEZZELLA F ANTONUTTI L GRANDI FC GUERRINI D MARZALLI A PINAMONTI B SALVI R SAMMARTINI C DUDINE P MILONE FF VICENZI M TERBERG JWM GELMERS HJ HAAS JA LINDEBOOM SF HERDERSCHEE D HIJDRA A VERMEULEN M BERTELSMANN FW HAZENBERG GJ KOETSIER JC BERNTSEN PJIM GEBBINK TB SLEEGERS FM VANBEECK JA FEIKEMA WJ VANGASTEREN JHM VELTEMA AN VREDEVELD CJM CARBAAT PAT HERTZBERGER LI KLEYWEG RP BOON AM LIEUWENS WHG VISSCHER F ARTS WFM BOON A MOLL LCM PERQUIN WVM TANS JTJ TONK R DEWEERD AW HAAXMAREICHE H OOSTERHUIS HJGH SNOEK JW FRANKE CL MIRANDOLLE JF KOEHLER PJJ BRIET PE VANROSSUM J BOITEN J BOON AE LODDER J NIHOM J MAUSER HW FRENKEN CWGM POELS EFJ PRICK MJJ VERHAGEN WIM HOPPENBROUWERS WJJF KOUUDSTAAL PJ STAAL A BENEDER PR BULENS C DEVRIESBOS LHP DECOUL AAWO LEYTEN ACM TIJSSEN CC SCHELLENS RLLA CILLESSEN JPM VANGIJN J KAPPELLE LJ DRIESEN JJM VANOUDENAARDEN WF VERHEY JCB FRISVOLD OJ HOLE T SKOGEN OR ASLAKSEN B GALLEFOSS F LAAKE KO BERG LK BALSLIEMKE S RITLAND S HVEEM K DEHLI O ABILDGAARD U DAHL T",WELUND,"GONCALVES JAG MAIA R PALMEIRO JF AMARAL R MACHADO C MESTRE A RIBEIRO F SOUSA L SALGADO AV BAPTISTA A CANDIDO JM MORGADO AV RAMIRES IMV CRESPO M FERRO JM FRANCO AS MELO TMP OLIVEIRA V LIMA AFB CORREIA MM LOPEZ JC MORGADO R SANTOS M GRAU G LOPEZ J MARTIN R MATIASGUIU J ALIO J CALOPA M MIRALLES F RUBIO F FUEYO J GOMEZ C MOLINA L DOLHABERRIAGUE L SOLERSINGLA L DAVALOS A GENIS D BASSAGANYAS J BARREIRO P DIEZTEJEDOR E FRANK A COSTA J MARES R LAINEZ L SANCHO J HENNERDAL KH RUDBACK N SAMUELSSON M SIGFRIDSON P HEDENUS M BOGOUSSLAVSKY J GHIKA J MARIANI L NATER B SCHMID F KNIGHT R HAMILTON SJC KANE J BELL R FOOTE CK CASSIDY T GRAY CS SANDERCOCK PAG SELLAR R WARLOW CP HOWE JG MCGOURTY JC BAMFORD J JOHNSON M CASTLEDEN CM HARPER GD PANAYIOTOU BN ROBINSON T BARER D HUMPHREY P KAFETZ K MCELLIGOTT G BATES D CARTLIDGE NEF VENABLES GS MONRO P VANLATUM JC VERMEULEN PC DENOUDEN A MAST B KOUDSTAAL PJ BOGOUSSLAVSKY J BOYSEN G BORNSTEIN N CANDELISE L DAHL T DEHAENE I FERRO J VANGIJN J GUSTAFSSON C HEDENUS M HIJDRA A KOUDSTAAL PJ KRAMER G LODDER J MAS JL MATIASGUIU J RICCI S SANDERCOCK PAG SCHOBBEN AFAM STAAL A VENABLES GS VERMEULEN M COLLINS R HARRISON MJG HILL C ALGRA A BAARSMA GS BANGA JD BROWER RW KAPPELLE LJ LOELIGER EA LUBSEN J POP GAM VANSWIETEN JC TIJSSEN JGP VANURK H VERHEUGT FWA
Citation: Pj. Koudstaal et al., SECONDARY PREVENTION IN NONRHEUMATIC ATRIAL-FIBRILLATION AFTER TRANSIENT ISCHEMIC ATTACK OR MINOR STROKE, Lancet, 342(8882), 1993, pp. 1255-1262
HEMIFACIAL SPASM AND HYPOTHYROIDISM
Authors: GENIS D RICART W FERNANDEZREAL JM DAVALOS A MOLINS A FERRANDIZ M
Citation: D. Genis et al., HEMIFACIAL SPASM AND HYPOTHYROIDISM, Lancet, 342(8879), 1993, pp. 1112-1112
Risultati: 1-22 |