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Results: 1-25 | 26-45
Results: 1-25/45
SEX-DEPENDENT REARRANGEMENTS RESULTING IN CMT1A AND HNPP
Authors: LOPES J RAVISE N VANDENEBRGHE A PALAU F IONASESCU V MAYER M LEVY N WOOD N TACHI N BOUCHE P LATOUR P RUBERG M BRICE A LEGUERN E
Citation: J. Lopes et al., SEX-DEPENDENT REARRANGEMENTS RESULTING IN CMT1A AND HNPP, European journal of human genetics, 6, 1998, pp. 4267-4267
FINE MAPPING OF DE-NOVO CMT1A AND HNPP REARRANGEMENTS WITHIN CMT1A-REPS EVIDENCES 2 DISTINCT SEX-DEPENDENT MECHANISMS AND CANDIDATE SEQUENCES INVOLVED IN RECOMBINATION
Authors: LOPES J RAVISE N VANDENBERGHE A PALAU F IONASESCU V MAYER M LEVY N WOOD N TACHI N BOUCHE P LATOUR P RUBERG M BRICE A LEGUERN E
Citation: J. Lopes et al., FINE MAPPING OF DE-NOVO CMT1A AND HNPP REARRANGEMENTS WITHIN CMT1A-REPS EVIDENCES 2 DISTINCT SEX-DEPENDENT MECHANISMS AND CANDIDATE SEQUENCES INVOLVED IN RECOMBINATION, Human molecular genetics, 7(1), 1998, pp. 141-148
X-LINKED CHARCOT-MARIE-TOOTH-DISEASE WITH CONNEXIN-32 MUTATIONS - CLINICAL AND ELECTROPHYSIOLOGIC STUDY
Authors: BIROUK N LEGUERN E MAISONOBE T ROUGER H GOUIDER R TARDIEU S GUGENHEIM M ROUTON MC LEGER JM AGID Y BRICE A BOUCHE P
Citation: N. Birouk et al., X-LINKED CHARCOT-MARIE-TOOTH-DISEASE WITH CONNEXIN-32 MUTATIONS - CLINICAL AND ELECTROPHYSIOLOGIC STUDY, Neurology, 50(4), 1998, pp. 1074-1082
THE FIRST DE-NOVO MUTATION OF THE CONNEXIN-32 GENE ASSOCIATED WITH X-LINKED CHARCOT-MARIE-TOOTH-DISEASE
Authors: MEGGOUH F BENOMAR A ROUGER H TARDIEU S BIROUK N TASSIN J BARHOUMI C YAHYAOUI M CHKILI T BRICE A LEGUERN E
Citation: F. Meggouh et al., THE FIRST DE-NOVO MUTATION OF THE CONNEXIN-32 GENE ASSOCIATED WITH X-LINKED CHARCOT-MARIE-TOOTH-DISEASE, Journal of Medical Genetics, 35(3), 1998, pp. 251-252
SEX-DEPENDENT REARRANGEMENTS RESULTING IN CMT1A AND HNPP
Authors: LOPES J VANDENBERGHE A TARDIEU S IONASESCU V LEVY N WOOD N TACHI N BOUCHE P LATOUR P BRICE A LEGUERN E
Citation: J. Lopes et al., SEX-DEPENDENT REARRANGEMENTS RESULTING IN CMT1A AND HNPP, Nature genetics, 17(2), 1997, pp. 136-137
CHARCOT-MARIE-TOOTH-DISEASE WITH INTERMEDIATE MOTOR-NERVE CONDUCTION VELOCITIES - CHARACTERIZATION OF 14 CX32 MUTATIONS IN 35 FAMILIES
Authors: ROUGER H LEGUERN E BIROUK N GOUIDER R TARDIEU S PLASSART E GUGENHEIM M VALLAT JM LOUBOUTIN JP BOUCHE P AGID E BRICE A
Citation: H. Rouger et al., CHARCOT-MARIE-TOOTH-DISEASE WITH INTERMEDIATE MOTOR-NERVE CONDUCTION VELOCITIES - CHARACTERIZATION OF 14 CX32 MUTATIONS IN 35 FAMILIES, Human mutation, 10(6), 1997, pp. 443-450
PATIENTS HOMOZYGOUS FOR THE 17P11.2 DUPLICATION IN CHARCOT-MARIE-TOOTH TYPE 1A DISEASE
Authors: LEGUERN E GOUIDER R MABIN D TARDIEU S BIROUK N PARENT P BOUCHE P BRICE A
Citation: E. Leguern et al., PATIENTS HOMOZYGOUS FOR THE 17P11.2 DUPLICATION IN CHARCOT-MARIE-TOOTH TYPE 1A DISEASE, Annals of neurology, 41(1), 1997, pp. 104-108
RECURRENT POLYRADICULONEUROPATHY WITH THE 17P11.2 DELETION
Authors: LEFORESTIER N LEGUERN E COULLIN P BIROUK N MAISONOBE T BRICE A LEGER JM BOUCHE P
Citation: N. Leforestier et al., RECURRENT POLYRADICULONEUROPATHY WITH THE 17P11.2 DELETION, Muscle & nerve, 20(9), 1997, pp. 1184-1186
NEUROGENETICS
Authors: LEGUERN E
Citation: E. Leguern, NEUROGENETICS, Revue neurologique, 153(2), 1997, pp. 146-152
A CLINICAL, ELECTROPHYSIOLOGIC, NEUROPATHOLOGIC, AND GENETIC-STUDY OF2 LARGE ALGERIAN FAMILIES WITH AN AUTOSOMAL RECESSIVE DEMYELINATING FORM OF CHARCOT-MARIE-TOOTH-DISEASE
Authors: KESSALI M ZEMMOURI R GUILBOT A MAISONOBE T BRICE A LEGUERN E GRID D
Citation: M. Kessali et al., A CLINICAL, ELECTROPHYSIOLOGIC, NEUROPATHOLOGIC, AND GENETIC-STUDY OF2 LARGE ALGERIAN FAMILIES WITH AN AUTOSOMAL RECESSIVE DEMYELINATING FORM OF CHARCOT-MARIE-TOOTH-DISEASE, Neurology, 48(4), 1997, pp. 867-873
SMN GENE ANALYSIS OF THE SPINAL FORM OF CHARCOT-MARIE-TOOTH-DISEASE
Authors: HANASH A LEGUERN E BIROUK N CLERMONT O POUGET J BOUCHE P MUNNICH A BRICE A MELKI J
Citation: A. Hanash et al., SMN GENE ANALYSIS OF THE SPINAL FORM OF CHARCOT-MARIE-TOOTH-DISEASE, Journal of Medical Genetics, 34(6), 1997, pp. 507-508
CHARCOT-MARIE-TOOTH DISEASE TYPE-1A WITH 17P11.2 DUPLICATION - CLINICAL AND ELECTROPHYSIOLOGICAL PHENOTYPE STUDY AND INFLUENCING DISEASE SEVERITY IN 119 CASES
Authors: BIROUK N GOUIDER R LEGUERN E GUGENHEIM M TARDIEU S MAISONOBE T LEFORESTIER N AGID Y BRICE A BOUCHE P
Citation: N. Birouk et al., CHARCOT-MARIE-TOOTH DISEASE TYPE-1A WITH 17P11.2 DUPLICATION - CLINICAL AND ELECTROPHYSIOLOGICAL PHENOTYPE STUDY AND INFLUENCING DISEASE SEVERITY IN 119 CASES, Brain, 120, 1997, pp. 813-823
ANALYSIS OF THE CROSSOVER BREAKPOINTS IN 29 CMT1A AND 4 HNPP DE-NOVO PATIENTS
Authors: LEGUERN E LOPES J RAVISE N VANDENBERGHE A TARDIEU S IONASESCU V LEVY N WOOD N TACHI N LATOUR P BRICE A
Citation: E. Leguern et al., ANALYSIS OF THE CROSSOVER BREAKPOINTS IN 29 CMT1A AND 4 HNPP DE-NOVO PATIENTS, American journal of human genetics, 61(4), 1997, pp. 1384-1384
HOMOZYGOSITY MAPPING OF AN AUTOSOMAL RECESSIVE FORM OF DEMYELINATING CHARCOT-MARIE-TOOTH DISEASE TO CHROMOSOME 5Q23-Q33
Authors: LEGUERN E GUILBOT A KESSALI M RAVISE N TASSIN J MAISONOBE T GRID D BRICE A
Citation: E. Leguern et al., HOMOZYGOSITY MAPPING OF AN AUTOSOMAL RECESSIVE FORM OF DEMYELINATING CHARCOT-MARIE-TOOTH DISEASE TO CHROMOSOME 5Q23-Q33, Human molecular genetics, 5(10), 1996, pp. 1685-1688
A DE-NOVO CASE OF HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES (HNPP) OF MATERNAL ORIGIN - A NEW MECHANISM FOR DELETION IN 17P11.2
Authors: LEGUERN E GOUIDER R RAVISE N LOPES J TARDIEU S GUGENHEIM M ABBAS N BOUCHE P AGID Y BRICE A
Citation: E. Leguern et al., A DE-NOVO CASE OF HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES (HNPP) OF MATERNAL ORIGIN - A NEW MECHANISM FOR DELETION IN 17P11.2, Human molecular genetics, 5(1), 1996, pp. 103-106
ULTRASTRUCTURAL PMP22 EXPRESSION IN INHERITED DEMYELINATING NEUROPATHIES
Authors: VALLAT JM SINDOU P PREUX PM TABARAUD F MILOR AM COURATIER P LEGUERN E BRICE A
Citation: Jm. Vallat et al., ULTRASTRUCTURAL PMP22 EXPRESSION IN INHERITED DEMYELINATING NEUROPATHIES, Annals of neurology, 39(6), 1996, pp. 813-817
MOLECULAR-GENETIC ANALYSIS OF THE 17P11.2 REGION IN PATIENTS WITH HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES (HNPP)
Authors: TIMMERMAN V LOFGREN A LEGUERN E LIANG P DEJONGHE P MARTIN JJ VERHALLE D ROBBERECHT W GOUIDER R BRICE A VANBROECKHOVEN C
Citation: V. Timmerman et al., MOLECULAR-GENETIC ANALYSIS OF THE 17P11.2 REGION IN PATIENTS WITH HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES (HNPP), Human genetics, 97(1), 1996, pp. 26-34
MICROSATELLITE MAPPING OF THE DELETION IN PATIENTS WITH HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES (HNPP) - NEW MOLECULAR TOOLS FOR THE STUDY OF THE REGION 17P12-]P11 AND FOR DIAGNOSIS
Authors: LEGUERN E RAVISE N GOUIDER R GUGENHEIM M LOPES J BOUCHE P AGID Y BRICE A
Citation: E. Leguern et al., MICROSATELLITE MAPPING OF THE DELETION IN PATIENTS WITH HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES (HNPP) - NEW MOLECULAR TOOLS FOR THE STUDY OF THE REGION 17P12-]P11 AND FOR DIAGNOSIS, Cytogenetics and cell genetics, 72(1), 1996, pp. 20-25
GLIAL-CELL LINE-DERIVED NEUROTROPHIC FACTOR (GDNF) GENE-EXPRESSION INTHE HUMAN BRAIN - A POST-MORTEM IN-SITU HYBRIDIZATION STUDY WITH SPECIAL REFERENCE TO PARKINSONS-DISEASE
Authors: HUNOT S BERNARD V FAUCHEUX B BOISSIERE F LEGUERN E BRANA C GAUTRIS PP GUERIN J BLOCH B AGID Y HIRSCH EC
Citation: S. Hunot et al., GLIAL-CELL LINE-DERIVED NEUROTROPHIC FACTOR (GDNF) GENE-EXPRESSION INTHE HUMAN BRAIN - A POST-MORTEM IN-SITU HYBRIDIZATION STUDY WITH SPECIAL REFERENCE TO PARKINSONS-DISEASE, Journal of neural transmission, 103(8-9), 1996, pp. 1043-1052
CONSTANT REARRANGEMENT OF THE CMT1A-REP SEQUENCES IN HNPP PATIENTS WITH A DELETION IN CHROMOSOME 17P11.2 - A STUDY OF 34 UNRELATED CASES INCLUDING A DE-NOVO CASE OF MATERNAL ORIGIN
Authors: LEGUERN E GOUIDER R BIROUK N LOPES J ABBAS N GUGENHEIM M TARDIEU S RAVISE N LEGER JM VALLANT JM BOUCHE P AGID Y BRICE A
Citation: E. Leguern et al., CONSTANT REARRANGEMENT OF THE CMT1A-REP SEQUENCES IN HNPP PATIENTS WITH A DELETION IN CHROMOSOME 17P11.2 - A STUDY OF 34 UNRELATED CASES INCLUDING A DE-NOVO CASE OF MATERNAL ORIGIN, Neurology, 46(2), 1996, pp. 21003-21003
PMP22 IMMUNOREACTIVITY ON BIOPSIED SURAL NERVES IN CHARCOT-MARIE-TOOTH DISEASE 1A AND HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES
Authors: VALLAT JM SINDOU P PREUX PM TABARAUD F COURATIER P MILOR AM BRICE A LEGUERN E
Citation: Jm. Vallat et al., PMP22 IMMUNOREACTIVITY ON BIOPSIED SURAL NERVES IN CHARCOT-MARIE-TOOTH DISEASE 1A AND HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES, Neurology, 46(2), 1996, pp. 35004-35004
APOLIPOPROTEIN-E GENOTYPE DOES NOT AFFECT AGE AT ONSET IN PATIENTS WITH CHROMOSOME-14 ENCODED ALZHEIMERS-DISEASE
Authors: BRICE A TARDIEU S DIDIERJEAN O LEGUERN E MICHON A PILLON B HAHN V DUBOIS B PENET C AGID Y CAMPION D MARTINEZ M BABRON MC CLERGETDARPOUX F BELLIS M CALANDA A HEILIG R WEISSENBACH J MALLET J FREBOURG T HANNEQUIN D PUEL M LEDOZE F PASQUIER F ZIMMERMANN MA THOMASANTERION C MOREAU O
Citation: A. Brice et al., APOLIPOPROTEIN-E GENOTYPE DOES NOT AFFECT AGE AT ONSET IN PATIENTS WITH CHROMOSOME-14 ENCODED ALZHEIMERS-DISEASE, Journal of Medical Genetics, 33(2), 1996, pp. 174-175
RECOMBINATION HOT-SPOT IN A 3.2-KB REGION OF THE CHARCOT-MARIE-TOOTH TYPE 1A REPEAT SEQUENCES - NEW TOOLS FOR MOLECULAR DIAGNOSIS OF HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES AND OF CHARCOT-MARIE-TOOTH TYPE 1A
Authors: LOPES J LEGUERN E GOUIDER R TARDIEU S ABBAS N BIROUK N GUGENHEIM M BOUCHE P AGID Y BRICE A ARNEBES MC BRICHET B CHAPON F CHAZOT G CLAVELOU P DESNUELLE C DIRAISON P DUBAS F GONNAUD PM HURTEVENT JF KUNTZER T LAGUENY A MABIN D MAYER M OCHSNER F OLLAGNONROMAN E POUGET J TABARAUD F VALLAT JM VANDENBERGHE A
Citation: J. Lopes et al., RECOMBINATION HOT-SPOT IN A 3.2-KB REGION OF THE CHARCOT-MARIE-TOOTH TYPE 1A REPEAT SEQUENCES - NEW TOOLS FOR MOLECULAR DIAGNOSIS OF HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES AND OF CHARCOT-MARIE-TOOTH TYPE 1A, American journal of human genetics, 58(6), 1996, pp. 1223-1230
HIGH-FREQUENCY OF MUTATIONS IN CODON098 OF THE PERIPHERAL MYELIN PROTEIN PO GENE IN 20 FRENCH CMT1 PATIENTS
Authors: ROUGER H LEGUERN E GOUIDER R TARDIEU S BIROUK N GUGENHEIM M BOUCHE P AGID Y BRICE A
Citation: H. Rouger et al., HIGH-FREQUENCY OF MUTATIONS IN CODON098 OF THE PERIPHERAL MYELIN PROTEIN PO GENE IN 20 FRENCH CMT1 PATIENTS, American journal of human genetics, 58(3), 1996, pp. 638-641
THE GENE FOR AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA WITH PIGMENTARY MACULAR DYSTROPHY MAPS TO CHROMOSOME 3P12-P21.1
Authors: BENOMAR A KROLS L STEVANIN G CANCEL G LEGUERN E DAVID G OUHABI H MARTIN JJ DURR A ZAIM A RAVISE N BUSQUE C PENET C VANREGEMORTER N WEISSENBACH J YAHYAOUI M CHKILI T AGID Y VANBROECKHOVEN C BRICE A
Citation: A. Benomar et al., THE GENE FOR AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA WITH PIGMENTARY MACULAR DYSTROPHY MAPS TO CHROMOSOME 3P12-P21.1, Nature genetics, 10(1), 1995, pp. 84-88
Risultati: 1-25 | 26-45