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Results:
1-21
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Results: 21
Authors:
MOGHADASZADEH B
DESGUERRE I
TOPALOGLU H
MUNTONI F
PAVEK S
MAYER M
SEWRY C
FARDEAU M
TOME FMS
GUICHENEY P
Citation: B. Moghadaszadeh et al., IDENTIFICATION OF A NEW LOCUS FOR CONGENITAL MUSCULAR-DYSTROPHY WITH RIGID SPINE SYNDROME TO CHROMOSOME 1P35-36, European journal of human genetics, 6, 1998, pp. 506-506
Authors:
DESPORTES V
FRANCIS F
PINARD JM
DESGUERRE I
MOUTARD ML
SNOECK I
MEINERS LC
CAPRON F
CUSMAI R
RICCI S
MOTTE J
ECHENNE B
PONSOT G
DULAC O
CHELLY J
BELDJORD C
Citation: V. Desportes et al., DOUBLECORTIN IS THE MAJOR GENE CAUSING X-LINKED SUBCORTICAL LAMINAR HETEROTOPIA (SCLH), Human molecular genetics (Print), 7(7), 1998, pp. 1063-1070
Authors:
BOITIER E
DEGOUL F
DESGUERRE I
CHARPENTIER C
FRANCOIS D
PONSOT G
DIRY M
RUSTIN P
MARSAC C
Citation: E. Boitier et al., A CASE OF MITOCHONDRIAL ENCEPHALOMYOPATHY ASSOCIATED WITH A MUSCLE COENZYME Q(10) DEFICIENCY, Journal of the neurological sciences, 156(1), 1998, pp. 41-46
Authors:
MOGHADASZADEH B
DESGUERRE I
TOPALOGLU H
MUNTONI FN
PAVEK S
SEWRY C
MAYER M
FARDEAU M
TOME FMS
GUICHENEY P
Citation: B. Moghadaszadeh et al., IDENTIFICATION OF A NEW LOCUS FOR A PECULIAR FORM OF CONGENITAL MUSCULAR-DYSTROPHY WITH EARLY RIGIDITY OF THE SPINE, ON CHROMOSOME 1P35-36, American journal of human genetics, 62(6), 1998, pp. 1439-1445
Authors:
DESGUERRE I
URTIZBEREA A
Citation: I. Desguerre et A. Urtizberea, CLINICAL ASPECTS OF NEUROMUSCULAR DISEASES, Pediatric pulmonology, 1997, pp. 132-133
Authors:
MARSAC C
BENELLI C
DESGUERRE I
DIRY M
FOUQUE F
DEMEIRLEIR L
PONSOT G
SENECA S
POGGI F
SAUDUBRAY JM
ZABOT MT
FONTAN D
LISSENS W
Citation: C. Marsac et al., BIOCHEMICAL-STUDIES AND GENETIC-STUDIES OF 4 PATIENTS WITH PYRUVATE-DEHYDROGENASE-E1-ALPHA DEFICIENCY, Human genetics, 99(6), 1997, pp. 785-792
Authors:
DEGOUL F
FRANCOIS D
DIRY M
PONSOT G
DESGUERRE I
HERON B
MARSAC C
MOUTARD ML
Citation: F. Degoul et al., A NEAR HOMOPLASMIC T8993G MTDNA MUTATION IN A PATIENT WITH ATYPIC LEIGH-SYNDROME NOT PRESENT IN THE MOTHERS TISSUES, Journal of inherited metabolic disease, 20(1), 1997, pp. 49-53
Authors:
RODRIGUEZ D
DESGUERRE I
ADAMSBAUM C
MOUTARD ML
PONSOT G
Citation: D. Rodriguez et al., ACUTE POSTINFECTIOUS LEUKOENCEPHALITIS IN PEDIATRIC-PATIENTS - A REVIEW OF 5 CASES, Annales de pediatrie, 44(1), 1997, pp. 15-19
Authors:
DESPORTES V
PINARD JM
SMADJA D
MOTTE J
BOESPFLUGTANGUY O
MOUTARD ML
DESGUERRE I
BILLUART P
CARRIE A
BIENVENU T
VINET MC
BACHNER L
BELDJORD C
DULAC O
KAHN A
PONSOT G
CHELLY J
Citation: V. Desportes et al., DOMINANT X-LINKED SUBCORTICAL LAMINAR HETEROTOPIA AND LISSENCEPHALY SYNDROME (XSCLH LIS) - EVIDENCE FOR THE OCCURRENCE OF MUTATION IN MALESAND MAPPING OF A POTENTIAL LOCUS IN XQ22/, Journal of Medical Genetics, 34(3), 1997, pp. 177-183
Authors:
TELVI L
ION A
CAREL JC
DESGUERRE I
PIRAUD M
BOUTIN AM
FEINGOLD J
PONSOT G
FELLOUS M
MCELREAVEY K
Citation: L. Telvi et al., A DUPLICATION OF DISTAL XP ASSOCIATED WITH HYPOGONADOTROPIC HYPOGONADISM, HYPOPLASTIC EXTERNAL GENITALIA, MENTAL-RETARDATION, AND MULTIPLE CONGENITAL-ABNORMALITIES, Journal of Medical Genetics, 33(9), 1996, pp. 767-771
Authors:
LISSENS W
DESGUERRE I
BENELLI C
MARSAC C
FOUQUE F
HAENGGELI C
PONSOT G
SENECA S
LIEBAERS I
DEMEIRLEIR L
Citation: W. Lissens et al., PYRUVATE-DEHYDROGENASE DEFICIENCY IN A FEMALE DUE TO A 4-BASE-PAIR DELETION IN EXON-10 OF THE E1-ALPHA-GENE, Human molecular genetics, 4(2), 1995, pp. 307-308
Authors:
LEMERLE J
DAOUD P
MOUTARD ML
DESGUERRE I
RODRIGUEZ D
Citation: J. Lemerle et al., INTRAVENOUS MIDAZOLAM FOR THE TREATMENT O F STATUS EPILEPTICUS IN CHILDREN, Archives de pediatrie, 2(9), 1995, pp. 848-853
Authors:
PINARD JM
DESGUERRE I
MOTTE J
DULAC O
PONSOT G
Citation: Jm. Pinard et al., SUBCORTICAL LAMINAR HETEROTOPIA AND LISSE NCEPHALY - BRAIN MALFORMATIONS WITH X-LINKED INHERITANCE, Archives de pediatrie, 2(5), 1995, pp. 493-494
Authors:
DEGOUL F
DIRY M
RODRIGUEZ D
ROBAIN O
FRANCOIS D
PONSOT G
MARSAC C
DESGUERRE I
Citation: F. Degoul et al., CLINICAL, BIOCHEMICAL, AND MOLECULAR ANALYSIS OF A MATERNALLY INHERITED CASE OF LEIGH-SYNDROME (MILS) ASSOCIATED WITH THE MTDNA T8993G POINT MUTATION, Journal of inherited metabolic disease, 18(6), 1995, pp. 682-688
Authors:
PINARD JM
DESGUERRE I
MOTTE J
DULAC O
PONSOT G
Citation: Jm. Pinard et al., SUBCORTICAL LAMINAL HETEROTOPIA AND LISSE NCEPHALIA - X-LINKED INHERITANCE OF BRAIN MALFORMATIONS, Revue neurologique, 151(3), 1995, pp. 171-176
Authors:
NABBOUT R
SOUFFLET C
PLOUIN P
MAYER M
DESGUERRE I
DULAC O
Citation: R. Nabbout et al., NEONATAL PYRIDOXINE DEPENDENCY, Epilepsia, 36, 1995, pp. 192-192
Authors:
CHIRON C
DUMAS C
DULAC O",ALLAIRE,AUBOURG,BESSONLEAUD,CIEUTA,DAMON,DANEL,DERAMBUREP,"DESGUERRE I",FOHLEN,MOTTE,PARISOT,PASCAL,DESAINTMARTIN
Citation: C. Chiron et al., VIGABATRIN VERSUS HYDROCORTISONE AS 1ST-LINE MONOTHERAPY IN INFANTILESPASMS DUE TO TUBEROUS SCLEROSIS, Epilepsia, 36, 1995, pp. 265-265
Authors:
LANGUEPIN J
DAOUD P
DESGUERRE I
Citation: J. Languepin et al., DISCOMFORT IN A NEONATE DUE TO A CERVICAL INTRASPINAL ENTEROGENOUS CYST, Archives de pediatrie, 1(1), 1994, pp. 54-56
Authors:
DEMEIRLEIR L
LISSENS W
BENELLI C
PONSOT G
DESGUERRE I
MARSAC C
RODRIGUEZ D
SAUDUBRAY JM
POGGI F
LIEBAERS I
Citation: L. Demeirleir et al., ABERRANT SPLICING OF EXON-6 IN THE PYRUVATE DEHYDROGENASE-E1-ALPHA MESSENGER-RNA LINKED TO A SILENT MUTATION IN A LARGE FAMILY WITH LEIGH ENCEPHALOMYELOPATHY, Pediatric research, 36(6), 1994, pp. 707-712
Authors:
DESGUERRE I
PEDESPAN JM
BUISSONNIERE R
COUVREUR J
PONSOT G
Citation: I. Desguerre et al., ACQUIRED CEREBRAL TOXOPLASMOSIS IN AN IMMUNOCOMPETENT CHILD, Archives francaises de pediatrie, 50(4), 1993, pp. 339-342
Authors:
TRANG TTH
DESGUERRE I
GOLDMAN M
DELAPERCHE MF
GAULTIER C
Citation: Tth. Trang et al., SLEEP-RELATED BREATHING PATTERN IN YOUNG-CHILDREN WITH NEUROMUSCULAR DISEASES, The American review of respiratory disease, 147(4), 1993, pp. 760-760
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1-21
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