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Fatal heart failure associated with CoQ10 and multiple OXPHOS deficiency in a child with propionic acidemia. [electronic resource] by
- Fragaki, Konstantina
- Cano, Aline
- Benoist, Jean-François
- Rigal, Odile
- Chaussenot, Annabelle
- Rouzier, Cécile
- Bannwarth, Sylvie
- Caruba, Céline
- Chabrol, Brigitte
- Paquis-Flucklinger, Véronique
Producer: 20110725
In:
Mitochondrion vol. 11
Availability: No items available.
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8.
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A new mutation in the mitochondrial tRNA [electronic resource] by
- Morel, Godelieve
- Bannwarth, Sylvie
- Chaussenot, Annabelle
- Cano, Aline
- Fragaki, Konstantina
- Ait-El-Mkadem, Samira
- Rouzier, Cecile
- De Paula, Andre Maues
- Chabrol, Brigitte
- Paquis-Flucklinger, Veronique
Producer: 20180126
In:
Neuromuscular disorders : NMD vol. 26
Availability: No items available.
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9.
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Letter to the Editor on a paper by Hsiao C-T, Tsai P-C, Liao Y-C, Lee Y-C, Soong B-W. C9ORF72 repeat expansion is not a significant cause of late-onset cerebellar ataxia syndrome. J Neurol Sci 2014;347:322-324. [electronic resource] by
- Plutino, Morgane
- Chaussenot, Annabelle
- Ait-El-Mkadem, Samira
- Bannwarth, Sylvie
- Genin, Emmanuelle C
- Rouzier, Cécile
- Augé, Gaëlle
- Sacconi, Sabrina
- Pouget, Jean
- Paquis-Flucklinger, Véronique
Producer: 20150901
In:
Journal of the neurological sciences vol. 351
Availability: No items available.
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10.
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Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiency. [electronic resource] by
- Fragaki, Konstantina
- Ait-El-Mkadem, Samira
- Chaussenot, Annabelle
- Gire, Catherine
- Mengual, Raymond
- Bonesso, Laurent
- Bénéteau, Marie
- Ricci, Jean-Ehrland
- Desquiret-Dumas, Valérie
- Procaccio, Vincent
- Rötig, Agnès
- Paquis-Flucklinger, Véronique
Producer: 20131017
In:
European journal of human genetics : EJHG vol. 21
Availability: No items available.
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11.
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The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotype. [electronic resource] by
- Rouzier, Cécile
- Bannwarth, Sylvie
- Chaussenot, Annabelle
- Chevrollier, Arnaud
- Verschueren, Annie
- Bonello-Palot, Nathalie
- Fragaki, Konstantina
- Cano, Aline
- Pouget, Jean
- Pellissier, Jean-François
- Procaccio, Vincent
- Chabrol, Brigitte
- Paquis-Flucklinger, Véronique
Producer: 20120719
In:
Brain : a journal of neurology vol. 135
Availability: No items available.
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12.
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CHCHD10 mutations are not a common cause of SMN1-negative type III/IV spinal motor atrophy. [electronic resource] by
- Morel, Godelieve
- Rouzier, Cécile
- Chaussenot, Annabelle
- Ait-El-Mkadem, Samira
- Bannwarth, Sylvie
- Genin, Emmanuelle C
- Augé, Gaëlle
- Chabrol, Brigitte
- Pouget, Jean
- Soriani, Marie Hélène
- Sacconi, Sabrina
- Paquis-Flucklinger, Véronique
Producer: 20160126
In:
Annals of neurology vol. 78
Availability: No items available.
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13.
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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
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14.
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A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions. [electronic resource] by
- Rouzier, Cécile
- Moore, David
- Delorme, Cécile
- Lacas-Gervais, Sandra
- Ait-El-Mkadem, Samira
- Fragaki, Konstantina
- Burté, Florence
- Serre, Valérie
- Bannwarth, Sylvie
- Chaussenot, Annabelle
- Catala, Martin
- Yu-Wai-Man, Patrick
- Paquis-Flucklinger, Véronique
Producer: 20171017
In:
Human molecular genetics vol. 26
Availability: No items available.
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15.
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A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions. [electronic resource] by
- Rouzier, Cécile
- Moore, David
- Delorme, Cécile
- Lacas-Gervais, Sandra
- Ait-El-Mkadem, Samira
- Fragaki, Konstantina
- Burté, Florence
- Serre, Valérie
- Bannwarth, Sylvie
- Chaussenot, Annabelle
- Catala, Martin
- Yu-Wai-Man, Patrick
- Paquis-Flucklinger, Véronique
Publication details: Human molecular genetics 05 2017
In:
Human molecular genetics vol. 26
Availability: No items available.
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16.
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Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort. [electronic resource] by
- Rouzier, Cécile
- Chaussenot, Annabelle
- Serre, Valérie
- Fragaki, Konstantina
- Bannwarth, Sylvie
- Ait-El-Mkadem, Samira
- Attarian, Shahram
- Kaphan, Elsa
- Cano, Aline
- Delmont, Emilien
- Sacconi, Sabrina
- Mousson de Camaret, Bénédicte
- Rio, Marlène
- Lebre, Anne-Sophie
- Jardel, Claude
- Deschamps, Romain
- Richelme, Christian
- Pouget, Jean
- Chabrol, Brigitte
- Paquis-Flucklinger, Véronique
Producer: 20141118
In:
European journal of human genetics : EJHG vol. 22
Availability: No items available.
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17.
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Reply: Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis. [electronic resource] by
- Bannwarth, Sylvie
- Ait-El-Mkadem, Samira
- Chaussenot, Annabelle
- Genin, Emmanuelle C
- Lacas-Gervais, Sandra
- Fragaki, Konstantina
- Berg-Alonso, Laetitia
- Kageyama, Yusuke
- Serre, Valérie
- Moore, David
- Verschueren, Annie
- Rouzier, Cécile
- Le Ber, Isabelle
- Augé, Gaëlle
- Cochaud, Charlotte
- Lespinasse, Françoise
- N'Guyen, Karine
- de Septenville, Anne
- Brice, Alexis
- Yu-Wai-Man, Patrick
- Sesaki, Hiromi
- Pouget, Jean
- Paquis-Flucklinger, Véronique
Producer: 20150318
In:
Brain : a journal of neurology vol. 137
Availability: No items available.
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18.
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Reply: High prevalence of CHCHD10 mutations in patients with frontotemporal dementia from China. [electronic resource] by
- Bannwarth, Sylvie
- Ait-El-Mkadem, Samira
- Chaussenot, Annabelle
- Genin, Emmanuelle C
- Lacas-Gervais, Sandra
- Fragaki, Konstantina
- Berg-Alonso, Laetitia
- Kageyama, Yusuke
- Serre, Valérie
- Moore, David
- Verschueren, Annie
- Rouzier, Cécile
- Le Ber, Isabelle
- Augé, Gaëlle
- Cochaud, Charlotte
- Lespinasse, Françoise
- N'Guyen, Karine
- de Septenville, Anne
- Brice, Alexis
- Yu-Wai-Man, Patrick
- Sesaki, Hiromi
- Pouget, Jean
- Paquis-Flucklinger, Véronique
Producer: 20160726
In:
Brain : a journal of neurology vol. 139
Availability: No items available.
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19.
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Reply: A distinct clinical phenotype in a German kindred with motor neuron disease carrying a CHCHD10 mutation. [electronic resource] by
- Bannwarth, Sylvie
- Ait-El-Mkadem, Samira
- Chaussenot, Annabelle
- Genin, Emmanuelle C
- Lacas-Gervais, Sandra
- Fragaki, Konstantina
- Berg-Alonso, Laetitia
- Kageyama, Yusuke
- Serre, Valérie
- Moore, David
- Verschueren, Annie
- Rouzier, Cécile
- Le Ber, Isabelle
- Augé, Gaëlle
- Cochaud, Charlotte
- Lespinasse, Françoise
- N'Guyen, Karine
- de Septenville, Anne
- Brice, Alexis
- Yu-Wai-Man, Patrick
- Sesaki, Hiromi
- Pouget, Jean
- Paquis-Flucklinger, Véronique
Producer: 20151103
In:
Brain : a journal of neurology vol. 138
Availability: No items available.
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20.
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Reply: Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease. [electronic resource] by
- Bannwarth, Sylvie
- Ait-El-Mkadem, Samira
- Chaussenot, Annabelle
- Genin, Emmanuelle C
- Lacas-Gervais, Sandra
- Fragaki, Konstantina
- Berg-Alonso, Laetitia
- Kageyama, Yusuke
- Serre, Valérie
- Moore, David
- Verschueren, Annie
- Rouzier, Cécile
- Le Ber, Isabelle
- Augé, Gaëlle
- Cochaud, Charlotte
- Lespinasse, Françoise
- N'Guyen, Karine
- de Septenville, Anne
- Brice, Alexis
- Yu-Wai-Man, Patrick
- Sesaki, Hiromi
- Pouget, Jean
- Paquis-Flucklinger, Véronique
Producer: 20150318
In:
Brain : a journal of neurology vol. 137
Availability: No items available.
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