Zobrazeno 1 - 10
of 62
pro vyhledávání: '"Jon Andoni, Urtizberea"'
Autor:
Justine Lerat, Corinne Magdelaine, Anne‐Françoise Roux, Léa Darnaud, Hélène Beauvais‐Dzugan, Steven Naud, Laurence Richard, Paco Derouault, Karima Ghorab, Laurent Magy, Jean‐Michel Vallat, Pascal Cintas, Eric Bieth, Marie‐Christine Arne‐Bes, Cyril Goizet, Caroline Espil‐Taris, Hubert Journel, Annick Toutain, Jon Andoni Urtizberea, Odile Boespflug‐Tanguy, Fanny Laffargue, Philippe Corcia, Laurent Pasquier, Mélanie Fradin, Sylva Napuri, Jonathan Ciron, Jean‐Marc Boulesteix, Franck Sturtz, Anne‐Sophie Lia
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 9, Pp n/a-n/a (2019)
Abstract Background The most common inherited peripheral neuropathy is Charcot‐Marie‐Tooth disease (CMT), with a prevalence of 1/2500. Other symptoms can be associated to the condition, such as hearing loss. Currently, no global hearing impairmen
Externí odkaz:
https://doaj.org/article/fdb0f976071c48fd91636d29f0c9cf51
Autor:
Patricia Hafner, Simone Schmidt, Sabine Schädelin, Pascal Rippert, Dalil Hamroun, Solenn Fabien, Bettina Henzi, Niveditha Putananickal, Daniela Rubino-Nacht, Carole Vuillerot, Dirk Fischer, Stéphanie Fontaine-Carbonnel, Camille De Montferrand, Sylvie Ragot-Mandry, Stéphane Chabrier, Manuella Fournier Mehouas, Hélène Rauscent, Claude Cances, François Rivier, Jon Andoni Urtizberea, Sylviane Peudenier, Sylvain Brochard, Emmanuelle Lagrue
Publikováno v:
European Journal of Paediatric Neurology
European Journal of Paediatric Neurology, Elsevier, 2022, 36, pp.78-83. ⟨10.1016/j.ejpn.2021.11.004⟩
European Journal of Paediatric Neurology, 2022, 36, pp.78-83. ⟨10.1016/j.ejpn.2021.11.004⟩
European Journal of Paediatric Neurology, Elsevier, 2022, 36, pp.78-83. ⟨10.1016/j.ejpn.2021.11.004⟩
European Journal of Paediatric Neurology, 2022, 36, pp.78-83. ⟨10.1016/j.ejpn.2021.11.004⟩
International audience; The Motor Function Measure is a standardized scoring system to evaluate motor function and monitor disease progression in neuromuscular diseases such as Duchenne muscular dystrophy. There are no available reference percentile
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c42e636720a9cf5754eefad58995e25
https://hal.archives-ouvertes.fr/hal-03494418
https://hal.archives-ouvertes.fr/hal-03494418
Autor:
Cecilia Altuzarra, Altynshash Jaxybayeva, Marta Gomez Garcia de la Banda, Bakhytkul Myrzaliyeva, Jon Andoni Urtizberea, Jean-Michel Vallat, Raluca Anca Tudorache, Meriem Tazir, Andoni Echaniz-Laguna, Alain Verloes, Susana Quijano-Roy, Bruno Francou
Publikováno v:
neurogenetics. 22:333-341
Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive disease resulting from mutations in the NTRK1 gene encoding the neurotrophic tyrosine kinase-1 receptor. In this multicenter observational retrospective study, we i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::aa20ee8bbda3184a88f30e5a12c6c645
https://doi.org/10.1007/s10048-021-00668-z
https://doi.org/10.1007/s10048-021-00668-z
Publikováno v:
Genes. 14:954
Metabolic myopathies are rare inherited disorders that deserve more attention from neurologists and pediatricians. Pompe disease and McArdle disease represent some of the most common diseases in clinical practice; however, other less common diseases
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d57af31a650c6021134e7edb8a7cf929
https://doi.org/10.3390/genes14050954
https://doi.org/10.3390/genes14050954
Autor:
Myriam Vezain, Christel Thauvin-Robinet, Yoann Vial, Sophie Coutant, Séverine Drunat, Jon Andoni Urtizberea, Anne Rolland, Agnès Jacquin-Piques, Séverine Fehrenbach, Gaël Nicolas, François Lecoquierre, Pascale Saugier-Veber
Publikováno v:
Human Genetics
Human Genetics, 2022, ⟨10.1007/s00439-017-1811-x⟩
Human Genetics, 2022, ⟨10.1007/s00439-017-1811-x⟩
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder resulting from biallelic alterations of the SMN1 gene: deletion, gene conversion or, in rare cases, intragenic variants. The disease severity is mainly influenced by the c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3efba974188d600cf82195d253513950
https://doi.org/10.21203/rs.3.rs-1666246/v1
https://doi.org/10.21203/rs.3.rs-1666246/v1
Autor:
Per Harald Jonson, Peter Hackman, Anna Vihola, Jaakko Sarparanta, Johanna Palmio, Jon Andoni Urtizberea, Jan Weinberg, Federico García-Bragado, Juan José Poza, Marco Savarese, Ana Maria Cobo, Montse Olivé, Bjarne Udd
Publikováno v:
Annals of Neurology. 85:899-906
Objective To clinically and pathologically characterize a cohort of patients presenting with a novel form of distal myopathy and to identify the genetic cause of this new muscular dystrophy. Methods We studied 4 families (3 from Spain and 1 from Swed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd459a055869151334a93df4ca315ab6
https://doi.org/10.1002/ana.25470
https://doi.org/10.1002/ana.25470
Autor:
Andoni, Echaniz-Laguna, Cecilia, Altuzarra, Alain, Verloes, Marta Gomez Garcia, De La Banda, Susana, Quijano-Roy, Raluca Anca, Tudorache, Altynshash, Jaxybayeva, Bakhytkul, Myrzaliyeva, Meriem, Tazir, Jean-Michel, Vallat, Bruno, Francou, Jon Andoni, Urtizberea
Publikováno v:
Neurogenetics. 22(4)
Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive disease resulting from mutations in the NTRK1 gene encoding the neurotrophic tyrosine kinase-1 receptor. In this multicenter observational retrospective study, we i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d56e759647366d34338ec8bba470ec74
https://pubmed.ncbi.nlm.nih.gov/34405299
https://pubmed.ncbi.nlm.nih.gov/34405299
Autor:
Alexandra Salvi, Nathalie Da Silva, Nicolas Lévy, Jon Andoni Urtizberea, Marc Bartoli, Catherine Robert, André Mégarbané, Moiz Bakhiet, Valérie Delague, Cristina Skrypnyk
Publikováno v:
Clinical Genetics
Clinical Genetics, Wiley, In press
HAL
Clinical Genetics, Wiley, In press
HAL
International audience; STIM1, the stromal interaction molecule 1, is the key protein for maintaining calciumconcentration in the endoplasmic reticulum by triggering the Store Operated CalciumEntry (SOCE). Bi-allelic mutations in STIM1 gene are respo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77455758ec4205d194d0c7302b6a8a40
https://hal-amu.archives-ouvertes.fr/hal-03184458v2/document
https://hal-amu.archives-ouvertes.fr/hal-03184458v2/document
Autor:
P. Laforêt, P. Saugier-Veber, Yann Péréon, Carole Vuillerot, L. Grimaldi-Bensouda, T. Stojkovic, Anthony Behin, Jon Andoni Urtizberea, Claude Cances, Vincent Laugel, Susana Quijano-Roy, Christine Barnerias, Frédérique Audic, Emmanuelle Campana-Salort, Sabrina Sacconi, Isabelle Desguerre, Brigitte Chabrol, C. Espil, Céline Tard, M. Gomez Garcia de la Banda
Publikováno v:
Neuromuscular Disorders. 31:S129
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e47f50d3798b767ccf8f77f161e04e6
https://doi.org/10.1016/j.nmd.2021.07.286
https://doi.org/10.1016/j.nmd.2021.07.286
Autor:
Céline Bouchet-Séraphin, John Rendu, Cécile Acquaviva-Bourdain, Mathieu Cerino, Aurélien Perrin, Frédérique Audic, Jon Andoni Urtizberea, Julien Fauré, Roseline Froissart, Mireille Cossée, Martin Krahn, Corinne Metay, Laurence Michel-Calemard, Damien Sternberg, Judith Melki, Jean Pouget, Emmanuelle Campana-Salort, Nathalie Seta, Annamaria Molon, Juliette Nectoux, François Petit, Valérie Biancalana, Brigitte Chabrol
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2019, 27 (3), pp.349-352. ⟨10.1038/s41431-018-0305-1⟩
European Journal of Human Genetics, 2019, 27 (3), pp.349-352. ⟨10.1038/s41431-018-0305-1⟩
European Journal of Human Genetics, Nature Publishing Group, 2019, 27 (3), pp.349-352. ⟨10.1038/s41431-018-0305-1⟩
European Journal of Human Genetics, 2019, 27 (3), pp.349-352. ⟨10.1038/s41431-018-0305-1⟩
International audience; Next-generation sequencing (NGS) gene-panel-based analyses constitute diagnosis strategies which are adapted to the genetic heterogeneity within the field of myopathies, including more than 200 implicated genes to date. Noneth
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d3209ce10979d04e8c51f4f4d27fd45c
https://hal.umontpellier.fr/hal-02434896
https://hal.umontpellier.fr/hal-02434896