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21 résultats

	Pour les 21 documents Envoyer sur ORCID RSS ATOM Exporter BibTeX XML-TEI CSV RTF EndNote PDF HTML Export avancé	Page :	triés par Pertinence Auteur A→Z Auteur Z→A Titre A→Z Titre Z→A Date de publication croissante Date de publication décroissante Date de dépôt croissante Date de dépôt décroissante

		Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort. Cécile Rouzier , Annabelle Chaussenot , Valérie Serre , Konstantina Fragaki , Sylvie Bannwarth , et al. European Journal of Human Genetics, 2014, 22 (4), pp.542-50. ⟨10.1038/ejhg.2013.171⟩ Article dans une revue hal-00968707v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Correction: The landscape of epilepsy-related GATOR1 variants Sara Baldassari , Fabienne Picard , Nienke E. Verbeek , Marjan van Kempen , Eva Brilstra , et al. Genetics in Medicine, 2019, 21 (8), pp.1896-1896. ⟨10.1038/s41436-018-0325-9⟩ Article dans une revue hal-02066352v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Assembly defects induce oxidative stress in inherited mitochondrial complex I deficiency Géraldine Leman , Naig Guegen , Valérie Desquiret-Dumas , Mariame Kane , Céline Wetterwald , et al. International Journal of Biochemistry and Cell Biology, 2015, 65, pp.91-103. ⟨10.1016/j.biocel.2015.05.017⟩ Article dans une revue hal-01399131v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		CAG/CTG and CGG/GCC repeats in human brain reference cDNAs: Outcome in searching for new dynamic mutations Véronique Albanèse , Sébastien Holbert , Claudine Saada , Sebastian Meier-Ewert , Anne Sophie Lebre , et al. Genomics, 1998, 47 (3), pp.414 - 418. ⟨10.1006/geno.1997.5130⟩ Article dans une revue istex hal-02696172v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		eKLIPse: a sensitive tool for the detection and quantification of mitochondrial DNA deletions from next-generation sequencing data David Goudenège , Céline Bris , Virginie Hoffmann , Valérie Desquiret-Dumas , Claude Jardel , et al. Genetics in Medicine, 2019, 21 (6), pp.1407-1416. ⟨10.1038/s41436-018-0350-8⟩ Article dans une revue hal-02388223v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Linkage Disequilibrium between the Spinocerebellar Ataxia 3/Machado-Joseph Disease Mutation and Two Intragenic Polymorphisms, One of Which, X359Y, Affects the Stop Codon Giovanni Stevanin , Anne-Sophie Lebre , Cécile Mathieux , Géraldine Cancel , Nacer Abbas , et al. American Journal of Human Genetics, 1997, 60 (6), pp.1548-1552. ⟨10.1016/S0002-9297(07)64251-7⟩ Article dans une revue hal-03503733v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Novel gene mutation in an atypical late-onset mitochondrial form of multifocal dystonia Céline Bris , Tiphaine Rouaud , Valérie Desquiret-Dumas , Naïg Gueguen , David Goudenège , et al. Neurology Genetics, 2017, 3 (6), pp.e205. ⟨10.1212/NXG.0000000000000205⟩ Article dans une revue hal-01964498v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome Aidin Foroutan , Sadegheh Haghshenas , Pratibha Bhai , Michael A Levy , Jennifer Kerkhof , et al. International Journal of Molecular Sciences, 2022, 23 (3), pp.1815. ⟨10.3390/ijms23031815⟩ Article dans une revue inserm-03561254v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Resveratrol attenuates oxidative stress in mitochondrial Complex I deficiency: Involvement of SIRT3 Lise Mathieu , Alexandra Lopes Costa , Carole Le Bachelier , Abdelhamid Slama , Anne-Sophie Lebre , et al. Free Radical Biology and Medicine, 2016, 96, pp.190-198. ⟨10.1016/j.freeradbiomed.2016.04.027⟩ Article dans une revue inserm-02894821v2	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders Sylvie Bannwarth , Vincent Procaccio , Anne-Sophie Lebre , Claude Jardel , A. Chaussenot , et al. Journal of Medical Genetics, 2013, 50 (10), pp.704 - 14. ⟨10.1136/jmedgenet-2013-101604⟩ Article dans une revue hal-03404064v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		PML nuclear bodies and neuronal intranuclear inclusion in polyglutamine diseases Junko Takahashi , Hiroto Fujigasaki , Kiyoshi Iwabuchi , Amalia Bruni , Toshiki Uchihara , et al. Neurobiology of Disease, 2003, 13 (3), pp.230-237. ⟨10.1016/s0969-9961(03)00080-9⟩ Article dans une revue istex hal-03503149v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency. Anne-Sophie Lebre , Nathalie Boddaert Journal of Medical Genetics, 2010, 48 (1), pp.16. ⟨10.1136/jmg.2010.079624⟩ Article dans une revue istex hal-00579024v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Survey of CAG/CTG repeats in human cDNAs representing new genes: Candidates for inherited neurological disorders Christian Neri , Véronique Albanèse , Anne-Sophie Lebre , Sébastien Holbert , Claudine Saada , et al. Human Molecular Genetics, 1996, 5 (7), pp.1001 - 1009. ⟨10.1093/hmg/5.7.1001⟩ Article dans une revue hal-02698900v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature Claire Bar , Giulia Barcia , Mélanie Jennesson , Gwenaël Le Guyader , Amy Schneider , et al. Human Mutation, 2020, 41 (1), pp.69-80. ⟨10.1002/humu.23915⟩ Article dans une revue hal-02302579v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Developmental and epilepsy spectrum of KCNB1 encephalopathy with long‐term outcome Claire Bar , Mathieu Kuchenbuch , Giulia Barcia , Amy Schneider , Mélanie Jennesson , et al. Epilepsia, 2020, 61 (11), pp.2461-2473. ⟨10.1111/epi.16679⟩ Article dans une revue hal-02959318v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Clinical Genetics of Prolidase Deficiency: An Updated Review Marta Spodenkiewicz , Michel Spodenkiewicz , Maureen Cleary , Marie Massier , Giorgos Fitsialos , et al. Biology, 2020, 9, ⟨10.3390/biology9050108⟩ Article dans une revue hal-03405955v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Two populations of neuronal intranuclear inclusions in SCA7 differ in size and promyelocytic leukaemia protein content Junko Takahashi , Hiroto Fujigasaki , Cecilia Soussi-Zander , Khalid El Hachimi , Giovanni Stevanin , et al. Brain - A Journal of Neurology , 2002, 125 (7), pp.1534-1543. ⟨10.1093/brain/awf154⟩ Article dans une revue hal-03503186v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Diagnostic approach to neurotransmitter monoamine disorders: experience from clinical, biochemical, and genetic profiles. Alice Kuster , Jean-Baptiste Arnoux , Magalie Barth , Delphine Lamireau , Nada Houcinat , et al. Journal of Inherited Metabolic Disease, 2018, 41 (1), pp.129-139. ⟨10.1007/s10545-017-0079-6⟩ Article dans une revue hal-02627220v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Natural history of Barth syndrome: a national cohort study of 22 patients. Charlotte Rigaud , Anne-Sophie Lebre , Renaud Touraine , Blandine Beaupain , Chris Ottolenghi , et al. Orphanet Journal of Rare Diseases, 2013, 8 (1), pp.70. ⟨10.1186/1750-1172-8-70⟩ Article dans une revue inserm-00823569v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression. Cyril Mignot , Emmanuelle Apartis , Alexandra Durr , Charles Marques Lourenço , Perrine Charles , et al. Orphanet Journal of Rare Diseases, 2013, 8 (1), pp.173. ⟨10.1186/1750-1172-8-173⟩ Article dans une revue inserm-00907850v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND) Gabriella Vera , Arthur Sorlin , Geoffroy Delplancq , François Lecoquierre , Marie Brasseur-Daudruy , et al. European Journal of Medical Genetics, 2020, pp.104004. ⟨10.1016/j.ejmg.2020.104004⟩ Article dans une revue hal-02904491v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More

Filtrer vos résultats

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

Correction: The landscape of epilepsy-related GATOR1 variants

Assembly defects induce oxidative stress in inherited mitochondrial complex I deficiency

CAG/CTG and CGG/GCC repeats in human brain reference cDNAs: Outcome in searching for new dynamic mutations

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

Linkage Disequilibrium between the Spinocerebellar Ataxia 3/Machado-Joseph Disease Mutation and Two Intragenic Polymorphisms, One of Which, X359Y, Affects the Stop Codon

Novel gene mutation in an atypical late-onset mitochondrial form of multifocal dystonia

Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome

Resveratrol attenuates oxidative stress in mitochondrial Complex I deficiency: Involvement of SIRT3

Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders

PML nuclear bodies and neuronal intranuclear inclusion in polyglutamine diseases

A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency.

Survey of CAG/CTG repeats in human cDNAs representing new genes: Candidates for inherited neurological disorders

Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature

Developmental and epilepsy spectrum of KCNB1 encephalopathy with long‐term outcome

Clinical Genetics of Prolidase Deficiency: An Updated Review

Two populations of neuronal intranuclear inclusions in SCA7 differ in size and promyelocytic leukaemia protein content

Diagnostic approach to neurotransmitter monoamine disorders: experience from clinical, biochemical, and genetic profiles.

Natural history of Barth syndrome: a national cohort study of 22 patients.

Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression.

Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND)