Szepetowski Pierre
Szepetowski Pierre
Unknown affiliation
Verified email at inserm.fr
Title
Cited by
Cited by
Year
Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse
LN De Sandre-Giovannoli A, Chaouch M, Kozlov S, Vallat JM, Tazir M, Kassouri ...
American Journal of Human Genetics 70 (3), 726-736, 2002
6452002
GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction
G Lesca, G Rudolf, N Bruneau, N Lozovaya, A Labalme, N Boutry-Kryza, ...
Nature genetics 45 (9), 1061-1066, 2013
3642013
Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16
P Szepetowski, J Rochette, P Berquin, C Piussan, GM Lathrop, ...
The American Journal of Human Genetics 61 (4), 889-898, 1997
3621997
GRIN2A mutations cause epilepsy-aphasia spectrum disorders
GL Carvill, BM Regan, SC Yendle, BJ O'Roak, N Lozovaya, N Bruneau, ...
Nature genetics 45 (9), 1073-1076, 2013
3162013
SRPX2 mutations in disorders of language cortex and cognition
P Roll, G Rudolf, S Pereira, B Royer, IE Scheffer, A Massacrier, ...
Human molecular genetics 15 (7), 1195-1207, 2006
2792006
Mutations in the Gene PRRT2 Cause Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions
HY Lee, Y Huang, N Bruneau, P Roll, EDO Roberson, M Hermann, ...
Cell reports 1 (1), 2-12, 2012
2512012
PIP2 binding residues of Kir2. 1 are common targets of mutations causing Andersen syndrome
MR Donaldson, JL Jensen, M Tristani–Firouzi, R Tawil, S Bendahhou, ...
Neurology 60 (11), 1811-1816, 2003
1882003
Epilepsy and mental retardation limited to females: an under-recognized disorder
IE Scheffer, SJ Turner, LM Dibbens, MA Bayly, K Friend, B Hodgson, ...
Brain 131 (4), 918-927, 2008
1802008
Linkage of benign familial infantile convulsions to chromosome 16p12-q12 suggests allelism to the infantile convulsions and choreoathetosis syndrome
R Caraballo, S Pavek, A Lemainque, M Gastaldi, B Echenne, J Motte, ...
The American Journal of Human Genetics 68 (3), 788-794, 2001
1672001
A single postnatal injection of oxytocin rescues the lethal feeding behaviour in mouse newborns deficient for the imprinted Magel2 gene
F Schaller, F Watrin, R Sturny, A Massacrier, P Szepetowski, F Muscatelli
Human molecular genetics 19 (24), 4895-4905, 2010
1662010
Epileptic encephalopathies of the Landau‐Kleffner and continuous spike and waves during slow‐wave sleep types: Genomic dissection makes the link with autism
G Lesca, G Rudolf, A Labalme, E Hirsch, A Arzimanoglou, P Genton, ...
Epilepsia 53 (9), 1526-1538, 2012
1652012
NMDA receptor subunit mutations in neurodevelopmental disorders
N Burnashev, P Szepetowski
Current opinion in pharmacology 20, 73-82, 2015
1502015
Association of infantile convulsions with paroxysmal dyskinesias (ICCA syndrome): confirmation of linkage to human chromosome 16p12-q12 in a Chinese family
WL Lee, A Tay, HT Ong, LM Goh, AP Monaco, P Szepetowski
Human genetics 103 (5), 608-612, 1998
1231998
DNA amplification at 11q13 in human cancer: from complexity to perplexity.
P Gaudray, P Szepetowski, C Escot, D Birnbaum, C Theillet
Mutation research 276 (3), 317, 1992
1201992
Epileptic and developmental disorders of the speech cortex: ligand/receptor interaction of wild-type and mutant SRPX2 with the plasminogen activator receptor uPAR
B Royer-Zemmour, M Ponsole-Lenfant, H Gara, P Roll, C Lévêque, ...
Human molecular genetics 17 (23), 3617-3630, 2008
1132008
Molecular networks implicated in speech-related disorders: FOXP2 regulates the SRPX2/uPAR complex
P Roll, SC Vernes, N Bruneau, J Cillario, M Ponsole-Lenfant, ...
Human molecular genetics 19 (24), 4848-4860, 2010
1122010
Large-scale expression study of human mesial temporal lobe epilepsy: evidence for dysregulation of the neurotransmission and complement systems in the entorhinal cortex
S Jamali, F Bartolomei, A Robaglia-Schlupp, A Massacrier, JC Peragut, ...
Brain 129 (3), 625-641, 2006
1052006
PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine
R Cloarec, N Bruneau, G Rudolf, A Massacrier, M Salmi, M Bataillard, ...
Neurology 79 (21), 2097-2103, 2012
1002012
BCL-1 participates in the 11q13 amplification found in breast cancer.
C Theillet, J Adnane, P Szepetowski, MP Simon, P Jeanteur, D Birnbaum, ...
Oncogene 5 (1), 147-149, 1990
971990
From rolandic epilepsy to continuous spike‐and‐waves during sleep and Landau‐Kleffner syndromes: Insights into possible genetic factors
G Rudolf, MP Valenti, E Hirsch, P Szepetowski
Epilepsia 50, 25-28, 2009
882009
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