Publications by authors named "Mathilde Renaud"

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Type and position of repeat interruptions as determinants of disease severity and expansion size in Friedreich ataxia.
Mehdi Benkirane, Cecilia Marelli, Ariane Choumert, Cyril Goizet, Olivier Patat, Mathilde Renaud

Genet Med· December 2025

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Mild cognitive dysfunction in hereditary spastic paraplegia 4 disease related to fluorodesoxyglucose cerebral positron emission tomography.
Raphaël Miroglio, Armand Hocquel, Jean-Marie Ravel, Guillemette Clément, Salomé Puisieux, Mathilde Renaud

Brain Commun· November 2025

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Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay.
Alanna Strong, Caoimhe McKenna, Karen Stals, Antonio Vitobello, Mathilde Renaud

Am J Med Genet A· October 2025

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Further delineation of LRSAM1-related Charcot-Marie-Tooth type 2P with parkinsonism.
Pauline Ducatel, Antoine Verger, Marion Selton, Mathilde Renaud, Salome Puisieux

Eur J Med Genet· October 2025

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Intronic FGF14 GAA repeat expansions impact progression and survival in multiple system atrophy.
Viorica Chelban, David Pellerin, Nirosen Vijiaratnam, Hamin Lee, Yen Yee Goh, Mathilde Renaud

Brain· September 2025

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Systematic analysis of snRNA genes reveals frequent variants in dominant and recessive developmental and epileptic encephalopathies.
Elsa Leitão, Amandine Santini, Benjamin Cogne, Myriam Essid, Maria Athanasiadou, Mathilde Renaud

medRxiv· September 2025

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Delineating the pathogenic threshold and phenotypic spectrum of SCA27B: findings from a large French-Canadian cohort.
Pablo Iruzubieta, David Pellerin, Catherine Ashton, Felipe Villa, Mathilde Renaud

J Neurol· September 2025

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The Two Faces of Pediatric SCA2.
Nicolas Rive Le Gouard, Maissa G Bah, Giulia Coarelli, Anna Heinzmann, Anne-Laure Fauret, Mathilde Renaud

Eur J Neurol· August 2025

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Neuropathy in GAA-FGF14 Late-Onset Cerebellar Ataxia (SCA27B): Prevalence and Characteristics.
Julian Theuriet, Lukas Paulet, Blandine Acket, Fabienne Ory-Magne, Hocine Belbachir, Mathilde Renaud

Eur J Neurol· July 2025

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Late-onset cerebellar ataxia in three European patients with repeat expansions in RFC1 and FGF14: a case series.
Armand Hocquel, David Pellerin, Jean Loup Méreaux, Vincent Huin, Marios Hadjivassiliou, Mathilde Renaud

J Neurol· July 2025

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Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.
Caroline Nava, Benjamin Cogne, Amandine Santini, Elsa Leitão, François Lecoquierre, Mathilde Renaud

Nat Genet· June 2025

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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, Mathilde Renaud

Brain· April 2025

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Involvement of the Superior Cerebellar Peduncles in GAA- Ataxia.
Shihan Chen, Catherine Ashton, Rawan Sakalla, Guillemette Clement, Sophie Planel, Mathilde Renaud

Neurol Genet· April 2025

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Recurrent primary hyperparathyroidism: A well-hidden genetic predisposition.
Gabriel Berkebile, Jérome Chatelin, Mathilde Renaud, Nicolas Scheyer

Ann Endocrinol (Paris)· December 2024

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Oculomotor Findings in Spinocerebellar Ataxia 27B: A Case Series.
Guillemette Clément, Salomé Puisieux, Catherine Ashton, David Pellerin, Matt C Danzi, Mathilde Renaud

Can J Neurol Sci· December 2024

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How to distinguish spinocerebellar ataxia 27B from late onset cerebellar ataxia: insights from a case-control study.
Raquel Pinheiro-Barbosa, Cheick Cissé, Paulo Bastos, Clémence Leung, Anne Pavy-le Traon, Mathilde Renaud

J Neurol· December 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

J Neurol· September 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, Émeline Renard, Mathilde Renaud, Justine Wourms

J Med Genet· August 2024

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A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus.
David Pellerin, Giulia F Del Gobbo, Madeline Couse, Egor Dolzhenko, Sathiji K Nageshwaran, Mathilde Renaud

Nat Genet· July 2024

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Somatic instability of the -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, Mathilde Renaud

medRxiv· July 2024

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Neuroradiological findings in GAA- ataxia (SCA27B): more than cerebellar atrophy.
Shihan Chen, Catherine Ashton, Rawan Sakalla, Guillemette Clement, Sophie Planel, Mathilde Renaud

medRxiv· May 2024

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Does Spinocerebellar ataxia 27B mimic cerebellar multiple system atrophy?
Thomas Wirth, Céline Bonnet, Clarisse Delvallée, David Pellerin, Thomas Bogdan, Mathilde Renaud

J Neurol· April 2024

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Paroxysmal Ataxia: A Characteristic Feature of FGF14 Repeat Expansion (SCA27B).
Cendrine Foucard, Marie Belley, Aude Sangare, Céline Bonnet, Mathilde Renaud

Neurol Genet· February 2024

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Spinocerebellar ataxia 27B: A novel, frequent and potentially treatable ataxia.
David Pellerin, Matt C Danzi, Mathilde Renaud, Henry Houlden, Matthis Synofzik

Clin Transl Med· January 2024

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