Search the collection

22 results for Jardel,+Claude

Sort by:

Sort by

Limit results to:

20 per page

22 results for Jardel,+Claude

Export to excel

Export record to excel

File type to download

Beta version

Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 1
ArticlesPeer ReviewedFull Text
Improved detection of mitochondrial DNA instability in mitochondrial genome maintenance disorders
Author / Creator:Bris, Celine ; Goudenège, David ; Desquiret-Dumas, Valerie ; Gueguen, Naig ; Bannwarth, Sylvie ; Gaignard, Pauline ; Rucheton, Benoit ; Trimouille, Aurelien ; Allouche, Stephane ; Rouzier, Cecile ; Saadi, Samira ; Jardel, Claude ; Slama, Abdel ; Barth, Magalie ; Verny, Christophe ; Spinazzi, Marco ; Cassereau, Julien ; Colin, Estelle ; Armelle, Magot ; Pereon, Yann ; Martin-Negrier, Marie Laure ; Paquis-Flucklinger, Veronique ; Letournel, Franck ; Lenaers, Guy ; Bonneau, Dominique ; Reynier, Pascal ; Amati-Bonneau, Patrizia ; Procaccio, Vincent
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2021-09, Vol.23 (9), p.1769-1778
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 2
ArticlesPeer ReviewedFull Text
Mitochondrial dysfunction reveals the role of mRNA poly(A) tail regulation in oculopharyngeal muscular dystrophy pathogenesis
Author / Creator:Chartier, Aymeric ; Klein, Pierre ; Pierson, Stéphanie ; Barbezier, Nicolas ; Gidaro, Teresa ; Casas, François ; Carberry, Steven ; Dowling, Paul ; Maynadier, Laurie ; Bellec, Maëlle ; Oloko, Martine ; Jardel, Claude ; Moritz, Bodo ; Dickson, George ; Mouly, Vincent ; Ohlendieck, Kay ; Butler-Browne, Gillian ; Trollet, Capucine ; Simonelig, Martine
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2015-03, Vol.11 (3), p.e1005092-e1005092
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 3
ArticlesPeer ReviewedFull Text
QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease
Author / Creator:Guarani, Virginia ; Jardel, Claude ; Chrétien, Dominique ; Lombès, Anne ; Bénit, Paule ; Labasse, Clémence ; Lacène, Emmanuelle ; Bourillon, Agnès ; Imbard, Apolline ; Benoist, Jean-François ; Dorboz, Imen ; Gilleron, Mylène ; Goetzman, Eric S ; Gaignard, Pauline ; Slama, Abdelhamid ; Elmaleh-Bergès, Monique ; Romero, Norma B ; Rustin, Pierre ; Ogier de Baulny, Hélène ; Paulo, Joao A ; Harper, J Wade ; Schiff, Manuel
Publisher:England: eLife Science Publications, Ltd
Journal title:eLife, 2016-09, Vol.5
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 4
ArticlesPeer ReviewedFull Text
Adult-onset Generalized Dystonia as the Main Manifestation of MEGDEL Syndrome
Author / Creator:Giron, Camille ; Roze, Emmanuel ; Degos, Bertrand ; Méneret, Aurélie ; Jardel, Claude ; Lannuzel, Annie ; Mochel, Fanny
Publisher:United States: Columbia University Libraries/Information Services
Journal title:Tremor and other hyperkinetic movements (New York, N.Y.), 2018, Vol.8, p.554-554
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 5
ArticlesPeer ReviewedFull Text
Progressive Ataxia and Palatal Tremor: Think about POLG Mutations
Author / Creator:Mongin, Marie ; Delorme, Cécile ; Lenglet, Timothée ; Jardel, Claude ; Vignal, Catherine ; Roze, Emmanuel
Publisher:United States: Columbia University Libraries/Information Services
Journal title:Tremor and other hyperkinetic movements (New York, N.Y.), 2016-01, Vol.6, p.382-382
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 6
ArticlesPeer ReviewedFull Text
Genetic diagnosis of Mendelian disorders via RNA sequencing
Author / Creator:Kremer, Laura S. ; Bader, Daniel M. ; Mertes, Christian ; Kopajtich, Robert ; Pichler, Garwin ; Iuso, Arcangela ; Haack, Tobias B. ; Graf, Elisabeth ; Schwarzmayr, Thomas ; Terrile, Caterina ; Koňaříková, Eliška ; Repp, Birgit ; Kastenmüller, Gabi ; Adamski, Jerzy ; Lichtner, Peter ; Leonhardt, Christoph ; Funalot, Benoit ; Donati, Alice ; Tiranti, Valeria ; Lombes, Anne ; Jardel, Claude ; Gläser, Dieter ; Taylor, Robert W. ; Ghezzi, Daniele ; Mayr, Johannes A. ; Rötig, Agnes ; Freisinger, Peter ; Distelmaier, Felix ; Strom, Tim M. ; Meitinger, Thomas ; Gagneur, Julien ; Prokisch, Holger
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2017-06, Vol.8 (1), p.15824-11, Article 15824
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 7
ArticlesPeer ReviewedFull Text
eKLIPse: a sensitive tool for the detection and quantification of mitochondrial DNA deletions from next-generation sequencing data
Author / Creator:Goudenège, David ; Bris, Celine ; Hoffmann, Virginie ; Desquiret-Dumas, Valerie ; Jardel, Claude ; Rucheton, Benoit ; Bannwarth, Sylvie ; Paquis-Flucklinger, Veronique ; Lebre, Anne Sophie ; Colin, Estelle ; Amati-Bonneau, Patrizia ; Bonneau, Dominique ; Reynier, Pascal ; Lenaers, Guy ; Procaccio, Vincent
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2019-06, Vol.21 (6), p.1407-1416
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 8
ArticlesPeer ReviewedFull Text
Cerebrospinal fluid biomarkers in the differential diagnosis of Alzheimer's disease from other cortical dementias
Author / Creator:de Souza, Leonardo Cruz ; Lamari, Foudil ; Belliard, Serge ; Jardel, Claude ; Houillier, Caroline ; De Paz, Raphael ; Dubois, Bruno ; Sarazin, Marie
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of neurology, neurosurgery and psychiatry, 2011-03, Vol.82 (3), p.240-246
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 9
ArticlesPeer ReviewedFull Text
Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders
Author / Creator:Bannwarth, Sylvie ; Procaccio, Vincent ; Lebre, Anne Sophie ; Jardel, Claude ; Chaussenot, Annabelle ; Hoarau, Claire ; Maoulida, Hassani ; Charrier, Nathanaël ; Gai, Xiaowu ; Xie, Hongbo M ; Ferre, Marc ; Fragaki, Konstantina ; Hardy, Gaëlle ; Mousson de Camaret, Bénédicte ; Marlin, Sandrine ; Dhaenens, Claire Marie ; Slama, Abdelhamid ; Rocher, Christophe ; Paul Bonnefont, Jean ; Rötig, Agnès ; Aoutil, Nadia ; Gilleron, Mylène ; Desquiret-Dumas, Valérie ; Reynier, Pascal ; Ceresuela, Jennifer ; Jonard, Laurence ; Devos, Aurore ; Espil-Taris, Caroline ; Martinez, Delphine ; Gaignard, Pauline ; Le Quan Sang, Kim-Hanh ; Amati-Bonneau, Patrizia ; Falk, Marni J ; Florentz, Catherine ; Chabrol, Brigitte ; Durand-Zaleski, Isabelle ; Paquis-Flucklinger, Véronique
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2013-10, Vol.50 (10), p.704-714
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 10
ArticlesPeer ReviewedFull Text
A diagnostic flow chart for POLG-related diseases based on signs sensitivity and specificity
Author / Creator:Tchikviladzé, Maya ; Gilleron, Mylène ; Maisonobe, Thierry ; Galanaud, Damien ; Laforêt, Pascal ; Durr, Alexandra ; Eymard, Bruno ; Mochel, Fanny ; Ogier, Hélène ; Béhin, Anthony ; Stojkovic, Tanya ; Degos, Bertrand ; Gourfinkel-An, Isabelle ; Sedel, Frederic ; Anheim, Mathieu ; Elbaz, Alexis ; Viala, Karine ; Vidailhet, Marie ; Brice, Alexis ; Jardel, Claude ; Lombès, Anne
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of neurology, neurosurgery and psychiatry, 2015-06, Vol.86 (6), p.646-654
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 11
ArticlesPeer ReviewedFull Text
Targeted versus untargeted omics — the CAFSA story
Author / Creator:del Mar Amador, Maria ; Colsch, Benoit ; Lamari, Foudil ; Jardel, Claude ; Ichou, Farid ; Rastetter, Agnès ; Sedel, Frédéric ; Jourdan, Fabien ; Frainay, Clément ; Wevers, Ronald A. ; Roze, Emmanuel ; Depienne, Christel ; Junot, Christophe ; Mochel, Fanny
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2018-05, Vol.41 (3), p.447-456
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 12
ArticlesPeer ReviewedFull Text
Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort
Author / Creator: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
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2014-04, Vol.22 (4), p.542-550
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 13
ArticlesPeer ReviewedFull Text
Adult-onset Generalized Dystonia as the Main Manifestation of MEGDEL Syndrome
Author / Creator:Giron, Camille ; Roze, Emmanuel ; Degos, Bertrand ; Méneret, Aurélie ; Jardel, Claude ; Lannuzel, Annie ; Mochel, Fanny
Publisher:Dallas: Ubiquity Press
Journal title:Tremor and other hyperkinetic movements (New York, N.Y.), 2018-04, Vol.8, p.554
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 14
ArticlesPeer ReviewedFull Text
Mitochondrial dysfunction reveals the role of mRNA poly
Author / Creator:Chartier, Aymeric ; Klein, Pierre ; Pierson, Stephanie ; Barbezier, Nicolas ; Gidaro, Teresa ; Casas, Francois ; Carberry, Steven ; Dowling, Paul ; Maynadier, Laurie ; Bellec, Maelle ; Oloko, Martine ; Jardel, Claude ; Moritz, Bodo ; Dickson, George ; Mouly, Vincent ; Ohlendieck, Kay ; Butler-Browne, Gillian ; Trollet, Capucine ; Simonelig, Martine
Publisher:Public Library of Science
Journal title:PLoS genetics, 2015-03, Vol.11 (3)
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 15
ArticlesPeer ReviewedFull Text
Brain perfusion SPECT correlates with CSF biomarkers in Alzheimer’s disease
Author / Creator:Habert, Marie-Odile ; de Souza, Leonardo Cruz ; Lamari, Foudil ; Daragon, Nelle ; Desarnaud, Serge ; Jardel, Claude ; Dubois, Bruno ; Sarazin, Marie
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:European journal of nuclear medicine and molecular imaging, 2010-03, Vol.37 (3), p.589-593
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 16
ArticlesPeer ReviewedFull Text
Mitochondrial Dysfunction Reveals the Role of mRNA Poly(A) Tail Regulation in Oculopharyngeal Muscular Dystrophy Pathogenesis: e1005092
Author / Creator:Chartier, Aymeric ; Klein, Pierre ; Pierson, Stéphanie ; Barbezier, Nicolas ; Gidaro, Teresa ; Casas, François ; Carberry, Steven ; Dowling, Paul ; Maynadier, Laurie ; Bellec, Maëlle ; Oloko, Martine ; Jardel, Claude ; Moritz, Bodo ; Dickson, George ; Mouly, Vincent ; Ohlendieck, Kay ; Butler-Browne, Gillian ; Trollet, Capucine ; Simonelig, Martine
Publisher:San Francisco: Public Library of Science
Journal title:PLoS genetics, 2015-03, Vol.11 (3)
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 17
ArticlesPeer ReviewedFull Text
Progressive Ataxia and Palatal Tremor: Think about POLG Mutations
Author / Creator:Mongin, Marie ; Delorme, Cécile ; Lenglet, Timothée ; Jardel, Claude ; Vignal, Catherine ; Roze, Emmanuel
Publisher:Dallas: Ubiquity Press
Journal title:Tremor and other hyperkinetic movements (New York, N.Y.), 2016-05, Vol.6, p.382
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 18
ArticlesPeer ReviewedFull Text
Cerebrospinal fluid biomarkers in the differential diagnosis of Alzheimer's disease from cortical dementias
Author / Creator:Cruz de Souza, Leonardo ; Lamari, Foudil ; Belliard, Serge ; Jardel, Claude ; Houillier, Caroline ; de Paz, Raphael ; Dubois, Bruno ; Sarazin, Marie
Publisher:BMJ Publishing Group
Journal title:Journal of neurology, neurosurgery and psychiatry, 2010-08, Vol.82 (3)
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 19
ArticlesPeer ReviewedFull Text
Two large French pedigrees with non syndromic sensorineural deafness and the mitochondrial DNA T7511C mutation: evidence for a modulatory factor
Author / Creator:Chapiro, Elise ; Feldmann, Delphine ; Denoyelle, Françoise ; Sternberg, Damien ; Jardel, Claude ; Eliot, Marie-Madeleine ; Bouccara, Didier ; Weil, Dominique ; Garabédian, Eréa-Noel ; Couderc, Rémy ; Petit, Christine ; Marlin, Sandrine
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2002-12, Vol.10 (12), p.851-856
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 20
ArticlesPeer ReviewedFull Text
Functional characterization of novel mutations in the human cytochrome b gene
Author / Creator:Legros, F ; Chatzoglou, E ; Frachon, P ; Ogier De Baulny, H ; Laforêt, P ; Jardel, C ; Godinot, C ; Lombès, A
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2001-07, Vol.9 (7), p.510-518
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.

Showing 1 to 20 of 22 results

Export record to excel

Export this record

Export record to excel

Improved detection of mitochondrial DNA instability in mitochondrial genome maintenance disorders

Export this record

Export record to excel

Mitochondrial dysfunction reveals the role of mRNA poly(A) tail regulation in oculopharyngeal muscular dystrophy pathogenesis

Export this record

Export record to excel

QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease

Export this record

Export record to excel

Adult-onset Generalized Dystonia as the Main Manifestation of MEGDEL Syndrome

Export this record

Export record to excel

Progressive Ataxia and Palatal Tremor: Think about POLG Mutations

Export this record

Export record to excel

Genetic diagnosis of Mendelian disorders via RNA sequencing

Export this record

Export record to excel

eKLIPse: a sensitive tool for the detection and quantification of mitochondrial DNA deletions from next-generation sequencing data

Export this record

Export record to excel

Cerebrospinal fluid biomarkers in the differential diagnosis of Alzheimer's disease from other cortical dementias

Export this record

Export record to excel

Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders

Export this record

Export record to excel

A diagnostic flow chart for POLG-related diseases based on signs sensitivity and specificity

Export this record

Export record to excel

Targeted versus untargeted omics — the CAFSA story

Export this record

Export record to excel

Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort

Export this record

Export record to excel

Adult-onset Generalized Dystonia as the Main Manifestation of MEGDEL Syndrome

Export this record

Export record to excel

Mitochondrial dysfunction reveals the role of mRNA poly

Export this record

Export record to excel

Brain perfusion SPECT correlates with CSF biomarkers in Alzheimer’s disease

Export this record

Export record to excel

Mitochondrial Dysfunction Reveals the Role of mRNA Poly(A) Tail Regulation in Oculopharyngeal Muscular Dystrophy Pathogenesis: e1005092

Export this record

Export record to excel

Progressive Ataxia and Palatal Tremor: Think about POLG Mutations

Export this record

Export record to excel

Cerebrospinal fluid biomarkers in the differential diagnosis of Alzheimer's disease from cortical dementias

Export this record

Export record to excel

Two large French pedigrees with non syndromic sensorineural deafness and the mitochondrial DNA T7511C mutation: evidence for a modulatory factor

Export this record

Export record to excel

Functional characterization of novel mutations in the human cytochrome b gene

Refine your search