Mathilde Renaud - Université de Lorraine

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论文共 11 篇作者统计合作学者相似作者

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Clinical and Genetic Keys to Cerebellar Ataxia Due to FGF14 GAA Expansions

EBIOMEDICINE (2024)

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A Common Flanking Variant is Associated with Enhanced Meiotic Stability of the FGF14-SCA27B Locus

NATURE GENETICSno. 7 (2024)

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Expanding the Genetic and Clinical Spectrum of Tatton-Brown-Rahman Syndrome in a Series of 24 French Patients

Hortense Thomas,Tom Alix,Emeline Renard,Mathilde Renaud, Justine Wourms,Stephane Zuily,Bruno Leheup,David Genevieve,Natacha Dreumont,Emmanuelle Schmitt,Myriam Bronner,Marc Muller,Marion Divoux,Marion Wandzel,Jean-Marie Ravel, Mylene Dexheimer,Aurelie Becker,Virginie Roth,Marjolaine Willems,Christine Coubes,Gaelle Vieville,Francoise Devillard,Elise Schaefer,Sarah Baer,Amelie Piton,Benedicte Gerard,Marie Vincent,Mathilde Nizon,Benjamin Cogne,Lyse Ruaud,Nathalie Couque,Audrey Putoux,Patrick Edery,Gaetan Lesca,Nicolas Chatron,Marianne Till,Laurence Faivre,Frederic Tran-Mau-Them,Jean-Luc Alessandri,Marine Lebrun,Chloe Quelin,Sylvie Odent,Christele Dubourg,Veronique David,Marie Faoucher,Cyril Mignot,Boris Keren, Elise Pisan,Alexandra Afenjar,Sophie Julia,Eric Bieth,Guillaume Banneau,Alice Goldenberg,Thomas Husson,Dominique Campion,Francois Lecoquierre,Gael Nicolas,Camille Charbonnier,Anne De Saint Martin,Sophie Naudion, Manon Degoutin,Sophie Rondeau,Caroline Michot,Valerie Cormier-Daire,Abderrahim Oussalah,Carine Pourie,Laetitia Lambert,Celine Bonnet

JOURNAL OF MEDICAL GENETICSno. 9 (2024): 878-885

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Autosomal Dominant MPAN: Mosaicism Expands the Phenotypic Spectrum to Frontotemporal Dementia

Chloe Angelini,Christelle Durand, Patricia Fergelot, Julie Deforges,Anne Vital,Patrice Menegon, Elisabeth Sarrazin,Remi Bellance,Stephane Mathis, Victoria Gonzalez,Mathilde Renaud,Solene Frismand,Emmanuelle Schmitt,Marie Rouanet, Lydie Burglen, Brigitte Chabrol,Beatrice Desnous,Benoit Arveiler, Giovanni Stevanin,Isabelle Coupry, Cyril Goizet

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 490-491

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Paroxysmal Ataxia

Cendrine Foucard, Marie Belley,Aude Sangare,Celine Bonnet,Mathilde Renaud,Emmanuel Roze

NEUROLOGY-GENETICSno. 1 (2024)

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Patients with Complex and Very-Early-onset ATL1-related Spastic Paraplegia Offer Insights on Genotype/phenotype Correlations and Support for Autosomal Recessive Forms of SPG3A

Angélique Hamamie-Chaar,Mathilde Renaud,Pinar Gençpinar,Ange-Line Bruel,Christophe Philippe,Julien Maraval,Caroline Racine,Nawale Hadouiri,Laetitia Lambert,Emmanuelle Schmitt,Guillaume Banneau,Armand Hocquel,Christel Thauvin-Robinet,Laurence Faivre,Quentin Thomas

JOURNAL OF NEUROLOGY (2024)

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Somatic Instability of the FGF14 -SCA27B GAA•TTC Repeat Reveals a Marked Expansion Bias in the Cerebellum

David Pellerin,Jean-Loup Méreaux,Susana Boluda,Matt C Danzi,Marie-Josée Dicaire,Claire-Sophie Davoine, David Genis, Guinevere Spurdens,Catherine Ashton, Jillian M Hammond, Brandon J Gerhart,Viorica Chelban, Phuong U Le, Maryam Safisamghabadi,Christopher Yanick, Hamin Lee, Sathiji K Nageshwaran,Gabriel Matos-Rodrigues,Zane Jaunmuktane,Kevin Petrecca, Schahram Akbarian,André Nussenzweig,Karen Usdin,Mathilde Renaud,Céline Bonnet,Gianina Ravenscroft, Mario A Saporta,Jill S Napierala,Henry Houlden,Ira W Deveson,Marek Napierala,Alexis Brice, Laura Molina Porcel, Danielle Seilhean,Stephan Zuchner,Alexandra Durr,Bernard Brais

Brain a journal of neurology (2024)

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FGF14: a Frequent New Causal Expansion in Cerebellar Ataxias

Jean-Loup Mereaux, Claire-Sophie Davoine,David Pellerin, Lena Guillot-Noel,Giulia Coarelli, Marie Coutelier,Claire Ewenczyk,Anna Heinzmann,Sandrine Noel, Anne-Laure Fauret,Bernard Brais,Mathilde Renaud,Alexis Brice,Alexandra Durr

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 493-494

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Non‐GAARepeat Expansions Infgf14are Likely Not Pathogenic—Reply To: “shaking Up Ataxia:FGF14andRFC1Repeat Expansions in Affected and Unaffected Members of a Chilean Family”

David Pellerin,Pablo Iruzubieta,Şeyma Tekgül,Matt C. Danzi,Catherine Ashton,Marie‐Josée Dicaire,Marion Wandzel,Virginie Roth,Phillipa Lamont,Céline Bonnet,Mathilde Renaud,Matthis Synofzik,Stephan Züchner,Bernard Brais,A. Nazlı Başak,Henry Houlden

Movement disordersno. 8 (2023): 1575-1577

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Clinical Utility of Periodic Reinterpretation of CNVs of Uncertain Significance: an 8-Year Retrospective Study

Jean-Marie Ravel,Mathilde Renaud,Jean Muller,Aurélie Becker,Émeline Renard,Thomas Remen,Geneviève Lefort, Mylène Dexheimer,Philippe Jonveaux,Bruno Leheup,Céline Bonnet,Laëtitia Lambert

Genome medicine（2023）

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