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Design, synthesis and activity of bisubstrate, transition-state analogues and competitive inhibitors of aspartate transcarbamylase. [electronic resource] by
- Grison, Claude
- Coutrot, Philippe
- Comoy, Corinne
- Balas, Laurence
- Joliez, Stéphane
- Lavecchia, Guido
- Oliger, Patrick
- Penverne, Bernadette
- Serre, Valérie
- Hervé, Guy
Producer: 20041129
In:
European journal of medicinal chemistry vol. 39
Availability: No items available.
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10.
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Aromatic L-amino acid decarboxylase deficiency is a cause of long-fasting hypoglycemia. [electronic resource] by
- Arnoux, Jean-Baptiste
- Damaj, Léna
- Napuri, Sylvia
- Serre, Valérie
- Hubert, Laurence
- Cadoudal, Marylène
- Simard, Gilles
- Ceballos, Irène
- Christa, Laurence
- de Lonlay, Pascale
Producer: 20140102
In:
The Journal of clinical endocrinology and metabolism vol. 98
Availability: No items available.
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11.
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A novel mutation of the NDUFS7 gene leads to activation of a cryptic exon and impaired assembly of mitochondrial complex I in a patient with Leigh syndrome. [electronic resource] by
- Lebon, Sophie
- Minai, Limor
- Chretien, Dominique
- Corcos, Johanna
- Serre, Valérie
- Kadhom, Noman
- Steffann, Julie
- Pauchard, Jean-Yves
- Munnich, Arnold
- Bonnefont, Jean-Paul
- Rötig, Agnès
Producer: 20071129
In:
Molecular genetics and metabolism vol. 92
Availability: No items available.
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12.
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Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency. [electronic resource] by
- Monnot, Sophie
- Serre, Valérie
- Chadefaux-Vekemans, Bernadette
- Aupetit, Joelle
- Romano, Stéphane
- De Lonlay, Pascale
- Rival, Jean-Marie
- Munnich, Arnold
- Steffann, Julie
- Bonnefont, Jean-Paul
Producer: 20090730
In:
Human mutation vol. 30
Availability: No items available.
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A neonatal polyvisceral failure linked to a de novo homoplasmic mutation in the mitochondrially encoded cytochrome b gene. [electronic resource] by
- Fragaki, Konstantina
- Procaccio, Vincent
- Bannwarth, Sylvie
- Serre, Valérie
- O'Hearn, Sean
- Potluri, Prasanth
- Augé, Gaelle
- Casagrande, Florence
- Caruba, Céline
- Lambert, Jean Claude
- Paquis-Flucklinger, Véronique
Producer: 20091109
In:
Mitochondrion vol. 9
Availability: No items available.
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CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures. [electronic resource] by
- Mollet, Julie
- Delahodde, Agnès
- Serre, Valérie
- Chretien, Dominique
- Schlemmer, Dimitri
- Lombes, Anne
- Boddaert, Nathalie
- Desguerre, Isabelle
- de Lonlay, Pascale
- de Baulny, Hélène Ogier
- Munnich, Arnold
- Rötig, Agnès
Producer: 20080328
In:
American journal of human genetics vol. 82
Availability: No items available.
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15.
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Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy. [electronic resource] by
- Galmiche, Louise
- Serre, Valérie
- Beinat, Marine
- Assouline, Zahra
- Lebre, Anne-Sophie
- Chretien, Dominique
- Nietschke, Patrick
- Benes, Vladimir
- Boddaert, Nathalie
- Sidi, Daniel
- Brunelle, Francis
- Rio, Marlène
- Munnich, Arnold
- Rötig, Agnès
Producer: 20120531
In:
Human mutation vol. 32
Availability: No items available.
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16.
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Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion. [electronic resource] by
- Bourdon, Alice
- Minai, Limor
- Serre, Valérie
- Jais, Jean-Philippe
- Sarzi, Emmanuelle
- Aubert, Sophie
- Chrétien, Dominique
- de Lonlay, Pascale
- Paquis-Flucklinger, Véronique
- Arakawa, Hirofumi
- Nakamura, Yusuke
- Munnich, Arnold
- Rötig, Agnès
Producer: 20070814
In:
Nature genetics vol. 39
Availability: No items available.
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17.
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Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency. [electronic resource] by
- Vedrenne, Vanessa
- Gowher, Ali
- De Lonlay, Pascale
- Nitschke, Patrick
- Serre, Valérie
- Boddaert, Nathalie
- Altuzarra, Cecilia
- Mager-Heckel, Anne-Marie
- Chretien, Florence
- Entelis, Nina
- Munnich, Arnold
- Tarassov, Ivan
- Rötig, Agnès
Producer: 20130114
In:
American journal of human genetics vol. 91
Availability: No items available.
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18.
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Screening of CHCHD10 in a French cohort confirms the involvement of this gene in frontotemporal dementia with amyotrophic lateral sclerosis patients. [electronic resource] by
- Chaussenot, Annabelle
- Le Ber, Isabelle
- Ait-El-Mkadem, Samira
- Camuzat, Agnès
- de Septenville, Anne
- Bannwarth, Sylvie
- Genin, Emmanuelle C
- Serre, Valérie
- Augé, Gaëlle
- Brice, Alexis
- Pouget, Jean
- Paquis-Flucklinger, Véronique
Producer: 20151109
In:
Neurobiology of aging vol. 35
Availability: No items available.
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19.
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WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia. [electronic resource] by
- Huber, Céline
- Wu, Sulin
- Kim, Ashley S
- Sigaudy, Sabine
- Sarukhanov, Anna
- Serre, Valérie
- Baujat, Genevieve
- Le Quan Sang, Kim-Hanh
- Rimoin, David L
- Cohn, Daniel H
- Munnich, Arnold
- Krakow, Deborah
- Cormier-Daire, Valérie
Producer: 20131230
In:
American journal of human genetics vol. 93
Availability: No items available.
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20.
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Toward genotype phenotype correlations in GFM1 mutations. [electronic resource] by
- Galmiche, Louise
- Serre, Valérie
- Beinat, Marine
- Zossou, Raïssa
- Assouline, Zahra
- Lebre, Anne-Sophie
- Chretien, Florence
- Shenhav, Ruthie
- Zeharia, Avraham
- Saada, Ann
- Vedrenne, Vanessa
- Boddaert, Nathalie
- de Lonlay, Pascale
- Rio, Marlène
- Munnich, Arnold
- Rötig, Agnès
Producer: 20120713
In:
Mitochondrion vol. 12
Availability: No items available.
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