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Works (19)

Uniparental IsoDisomy: a case study on a new mechanism of Friedreich ataxia

European Journal of Human Genetics
2025-01 | Journal article
DOI: 10.1038/s41431-024-01728-2
Contributors: Brian Sperelakis-Beedham; Cyril Gitiaux; Marine Rajaoba; Maryse Magen; Nicolas Derive; Jerome Chansard; Jean-Madeleine de Sainte Agathe; Marie-Laure Maurin; Zahra Assouline; Christine Barnerias et al.
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Crossref

<i>De novo</i> and inherited monoallelic variants in <i>TUBA4A</i> cause ataxia and spasticity

Brain
2024-11-04 | Journal article
DOI: 10.1093/brain/awae193
Part of ISSN: 0006-8950
Part of ISSN: 1460-2156
Contributors: MEHDI BENKIRANE; Marion Bonhomme; Heba Morsy; Stephanie L Safgren; Cecilia Marelli; Annabelle Chaussenot; Damian Smedley; Valentina Cipriani; Jean-Madeleine de Sainte-Agathe; Can Ding et al.
Source: Self-asserted source
Jean-Madeleine de Sainte Agathe

Genetic Insights Into Hypothalamic Hamartoma

Neurology Genetics
2024-10 | Journal article
DOI: 10.1212/NXG.0000000000200180
Contributors: Lina Sami; Mathilde Chipaux; Sarah Ferrand-Sorbets; Marion Doladilhe; Christine Bulteau; Emmanuel Raffo; Sarah Rosenberg; Georg Dorfmuller; Rayann Checri; Jean-Madeleine De Sainte Agathe et al.
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Crossref

Brain malformations and seizures by impaired chaperonin function of TRiC.

Science (New York, N.Y.)
2024-10-31 | Journal article | Author
DOI: 10.1126/science.adp8721
PMID: 39480921
Contributors: Florian Kraft; Piere Rodriguez-Aliaga; Weimin Yuan; Lena Franken; Kamil Kajetan Zajt; Hasan D; Ting-Ting (Tina) Lee; Elisabetta Flex; Hentschel A; A. Micheil Innes et al.
Source: Self-asserted source
Jean-Madeleine de Sainte Agathe

Biallelic variants in ERLIN1: a series of 13 individuals with spastic paraparesis.

Human genetics
2024-10-04 | Journal article
DOI: 10.1007/s00439-024-02702-0
PMID: 39367212
Contributors: Cogan G; Zaki MS; Issa M; Keren B; Guillaud-Bataille M; Renaldo F; Isapof A; Lallemant P; Stevanin G; Guillot-Noel L et al.
Source: Self-asserted source
Jean-Madeleine de Sainte Agathe

POLR3B is associated with a developmental and epileptic encephalopathy with myoclonic-atonic seizures and ataxia.

Epilepsia
2024-09-30 | Journal article
DOI: 10.1111/epi.18115
PMID: 39348199
Contributors: Joseph Symonds; Park KL; Mignot C; Macleod S; Armstrong M; Ashrafian H; Bernard G; Brown K; Andreas Brunklaus; Callaghan M et al.
Source: Self-asserted source
Jean-Madeleine de Sainte Agathe

Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors.

Nature communications
2024-09-10 | Journal article
DOI: 10.1038/s41467-024-52095-x
PMID: 39256359
PMC: PMC11387733
Contributors: Willim J; Woike D; Greene D; Sarada Das; Pfeifer K; Yuan W; Anika Quillin; Itani O; Böhme AL; Tibbe D et al.
Source: Self-asserted source
Jean-Madeleine de Sainte Agathe

Expanding MNS1 Heterotaxy Phenotype.

American journal of medical genetics. Part A
2024-09-05 | Journal article
DOI: 10.1002/ajmg.a.63862
PMID: 39233552
Contributors: Julien Maraval; Delahaye-Duriez A; Racine C; ange-line bruel; Anne-Sophie Denommé-Pichon; Gaudillat L; Thauvin-Robinet C; Marie Lucain; Satre V; Coutton C et al.
Source: Self-asserted source
Jean-Madeleine de Sainte Agathe

A Novel Pattern of Dystonia in DYT- VPS16

Neurology Genetics
2024-08 | Journal article
DOI: 10.1212/NXG.0000000000200154
Contributors: Clément Desjardins; Cécile Delorme; Aurélie Méneret; Constance Flamand; Nathalie Leveque; Jean-Madeleine De Sainte Agathe; Emmanuel Roze; Marie Vidailhet
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Crossref

GRM7-related disorder: five additional patients from three independent families and review of the literature

European Journal of Medical Genetics
2024-02 | Journal article
DOI: 10.1016/j.ejmg.2023.104893
Part of ISSN: 1769-7212
Contributors: Louis Januel; Nicolas Chatron; Clotilde Rivier-Ringenbach; Sara Cabet; Audrey Labalme; Yavuz Sahin; Hossein Darvish; Michael Kruer; Somayeh Bakhtiari; Damien Sanlaville et al.
Source: Self-asserted source
Jean-Madeleine de Sainte Agathe

ARF1-related disorder: phenotypic and molecular spectrum

Journal of Medical Genetics
2023-10 | Journal article
DOI: 10.1136/jmg-2022-108803
Contributors: Jean-Madeleine de Sainte Agathe; Ben Pode-Shakked; Sophie Naudion; Vincent Michaud; Benoit Arveiler; Patricia Fergelot; Jean Delmas; Boris Keren; Céline Poirsier; Fowzan S Alkuraya et al.
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Crossref

Loss of function of ADNP by an intragenic inversion

European Journal of Human Genetics
2023-08 | Journal article
DOI: 10.1038/s41431-023-01323-x
Contributors: Mathieu Georget; Elodie Lejeune; Julien Buratti; Euphrasie Servant; Eric le Guern; Delphine Heron; Boris Keren; Jean-Madeleine de Sainte Agathe
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Crossref

Novel homozygous GLDC variant causing late-onset glycine encephalopathy: A case report and updated review of the literature

Molecular Genetics and Metabolism Reports
2023-03 | Journal article
DOI: 10.1016/j.ymgmr.2023.100959
Part of ISSN: 2214-4269
PMC: PMC9932748
Contributors: Minh-Tuan Huynh; Emilie Landais; Jean-Madeleine de Sainte Agathe; Anne Panchout; De Vanssay De Blavous-Legendre Caroline; Henri Bruel
Source: Self-asserted source
Jean-Madeleine de Sainte Agathe

SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation

Human Genomics
2023-02-10 | Journal article
DOI: 10.1186/s40246-023-00451-1
Part of ISSN: 1479-7364
Contributors: Jean-Madeleine de Sainte Agathe; Mathilde Filser; Bertrand Isidor; Thomas Besnard; Paul Gueguen; Aurélien Perrin; Charles Van Goethem; Camille Verebi; Marion Masingue; John Rendu et al.
Source: Self-asserted source
Jean-Madeleine de Sainte Agathe

Phenotypic spectrum of the recurrent TRPM3 p.( Val837Met ) substitution in seven individuals with global developmental delay and hypotonia

American Journal of Medical Genetics Part A
2022-02-10 | Journal article
DOI: 10.1002/ajmg.a.62673
Part of ISSN: 1552-4825
Part of ISSN: 1552-4833
Source: Self-asserted source
Jean-Madeleine de Sainte Agathe

Biallelic AOPEP Loss‐of‐Function Variants Cause Progressive Dystonia with Prominent Limb Involvement

Movement Disorders
2022-01 | Journal article
DOI: 10.1002/mds.28804
Part of ISSN: 0885-3185
Part of ISSN: 1531-8257
Source: Self-asserted source
Jean-Madeleine de Sainte Agathe

Adult Cerebellar Ataxia, Axonal Neuropathy, and Sensory Impairments Caused by Biallelic SCO2 Variants

Neurology Genetics
2021-12 | Journal article
DOI: 10.1212/NXG.0000000000000630
Contributors: Benoit Rucheton; Claire Ewenczyk; Pauline Gaignard; Jean-Madeleine de Sainte Agathe; Anne-Laure Fauret; Virginie Saillour; Sarah Leonard-Louis; Valerie Touitou; Fanny Mochel
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Crossref

RNF170‐Related Hereditary Spastic Paraplegia: Confirmation by a Novel Mutation

Movement Disorders
2021-03 | Journal article
DOI: 10.1002/mds.28371
Contributors: Jean‐Madeleine de Sainte Agathe; Sandra Mercier; Jean‐Yves Mahé; Yann Péréon; Julien Buratti; Laurène Tissier; Bophara Kol; Samia Ait Said; Éric Leguern; Guillaume Banneau et al.
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Crossref

Confirmation and Expansion of the Phenotype Associated with the Recurrent p.Val837Met Variant in TRPM3

European Journal of Medical Genetics
2020-08 | Journal article
DOI: 10.1016/j.ejmg.2020.103942
Part of ISSN: 1769-7212
Source: Self-asserted source
Jean-Madeleine de Sainte Agathe

Peer review (2 reviews for 2 publications/grants)

Review activity for Cell genomics. (1)
Review activity for Revue neurologique. (1)
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