Takip et
Valérie Serre
Valérie Serre
Université Paris Cité, Institut Jacques Monod
ijm.fr üzerinde doğrulanmış e-posta adresine sahip
Başlık
Alıntı yapanlar
Alıntı yapanlar
Yıl
Interleukin-36–receptor antagonist deficiency and generalized pustular psoriasis
S Marrakchi, P Guigue, BR Renshaw, A Puel, XY Pei, S Fraitag, J Zribi, ...
New England Journal of Medicine 365 (7), 620-628, 2011
11142011
Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion
A Bourdon, L Minai, V Serre, JP Jais, E Sarzi, S Aubert, D Chrétien, ...
Nature genetics 39 (6), 776-780, 2007
6342007
A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement
S Bannwarth, S Ait-El-Mkadem, A Chaussenot, EC Genin, ...
Brain 137 (8), 2329-2345, 2014
5732014
CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures
J Mollet, A Delahodde, V Serre, D Chretien, D Schlemmer, A Lombes, ...
The American Journal of Human Genetics 82 (3), 623-630, 2008
3322008
DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III
N Dagoneau, M Goulet, D Geneviève, Y Sznajer, J Martinovic, S Smithson, ...
The American Journal of Human Genetics 84 (5), 706-711, 2009
2672009
Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion
E Sarzi, S Goffart, V Serre, D Chrétien, A Slama, A Munnich, JN Spelbrink, ...
Annals of Neurology: Official Journal of the American Neurological …, 2007
2082007
Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy
L Galmiche, V Serre, M Beinat, Z Assouline, AS Lebre, D Chretien, ...
Human mutation 32 (11), 1225-1231, 2011
1732011
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome
C Le Goff, C Mahaut, A Abhyankar, W Le Goff, V Serre, A Afenjar, ...
Nature genetics 44 (1), 85-88, 2012
1672012
Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy
I Perrault, S Hanein, X Zanlonghi, V Serre, M Nicouleau, ...
Nature genetics 44 (9), 975-977, 2012
1662012
Description of a Large Family with Autosomal Dominant Hypercholesterolemia Associated with the APOE p.Leu167del Mutation
M Marduel, K Ouguerram, V Serre, D Bonnefont‐Rousselot, ...
Human mutation 34 (1), 83-87, 2013
1512013
Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene
M Gerards, BJC Van Den Bosch, K Danhauser, V Serre, M van Weeghel, ...
Brain 134 (1), 210-219, 2011
1442011
Screening of CHCHD10 in a French cohort confirms the involvement of this gene in frontotemporal dementia with amyotrophic lateral sclerosis patients
A Chaussenot, I Le Ber, S Ait-El-Mkadem, A Camuzat, A de Septenville, ...
Neurobiology of aging 35 (12), 2884. e1-2884. e4, 2014
1252014
TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy
S Hanein, I Perrault, O Roche, S Gerber, N Khadom, M Rio, N Boddaert, ...
The American Journal of Human Genetics 84 (4), 493-498, 2009
1182009
ALDH1A3 mutations cause recessive anophthalmia and microphthalmia
L Fares-Taie, S Gerber, N Chassaing, J Clayton-Smith, S Hanein, E Silva, ...
The American Journal of Human Genetics 92 (2), 265-270, 2013
1162013
Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency
V Vedrenne, A Gowher, P De Lonlay, P Nitschke, V Serre, N Boddaert, ...
The American Journal of Human Genetics 91 (5), 912-918, 2012
1132012
Mutations in mitochondrial ribosomal protein MRPL12 leads to growth retardation, neurological deterioration and mitochondrial translation deficiency
V Serre, A Rozanska, M Beinat, D Chretien, N Boddaert, A Munnich, ...
Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1832 (8 …, 2013
1082013
WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia
C Huber, S Wu, AS Kim, S Sigaudy, A Sarukhanov, V Serre, G Baujat, ...
The American Journal of Human Genetics 93 (5), 926-931, 2013
982013
Mutations in MDH2, encoding a Krebs cycle enzyme, cause early-onset severe encephalopathy
S Ait-El-Mkadem, M Dayem-Quere, M Gusic, A Chaussenot, S Bannwarth, ...
The American Journal of Human Genetics 100 (1), 151-159, 2017
972017
Impaired transferrin receptor palmitoylation and recycling in neurodegeneration with brain iron accumulation
A Drecourt, J Babdor, M Dussiot, F Petit, N Goudin, M Garfa-Traoré, ...
The American Journal of Human Genetics 102 (2), 266-277, 2018
922018
A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions
C Rouzier, D Moore, C Delorme, S Lacas-Gervais, S Ait-El-Mkadem, ...
Human molecular genetics 26 (9), 1599-1611, 2017
792017
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