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Biallelic variants in ERLIN1: a series of 13 individuals with spastic paraparesis.
Published in:
Human Genetics, 2024, v. 143, n. 11, p. 1353, doi. 10.1007/s00439-024-02702-0
By:
- Cogan, Guillaume;
- Zaki, Maha S.;
- Issa, Mahmoud;
- Keren, Boris;
- Guillaud-Bataille, Marine;
- Renaldo, Florence;
- Isapof, Arnaud;
- Lallemant, Pauline;
- Stevanin, Giovanni;
- Guillot-Noel, Lena;
- Courtin, Thomas;
- Buratti, Julien;
- Freihuber, Cécile;
- Gleeson, Joseph G.;
- Howarth, Robyn;
- Durr, Alexandra;
- de Sainte Agathe, Jean-Madeleine;
- Mignot, Cyril
Publication type:
Article
Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM).
Published in:
Human Genetics, 2020, v. 139, n. 10, p. 1325, doi. 10.1007/s00439-020-02176-w
By:
- Tucker, Elena J.;
- Rius, Rocio;
- Jaillard, Sylvie;
- Bell, Katrina;
- Lamont, Phillipa J.;
- Travessa, André;
- Dupont, Juliette;
- Sampaio, Lurdes;
- Dulon, Jérôme;
- Vuillaumier-Barrot, Sandrine;
- Whalen, Sandra;
- Isapof, Arnaud;
- Stojkovic, Tanya;
- Quijano-Roy, Susana;
- Robevska, Gorjana;
- van den Bergen, Jocelyn;
- Hanna, Chloe;
- Simpson, Andrea;
- Ayers, Katie;
- Thorburn, David R.
Publication type:
Article
De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2384, doi. 10.1002/ajmg.a.62254
By:
- Dias, Caroline;
- Pfundt, Rolph;
- Kleefstra, Tjitske;
- Shuurs‐Hoeijmakers, Janneke;
- Boon, Elles M. J.;
- Hagen, Johanna M.;
- Zwijnenburg, Petra;
- Weiss, Marjan M.;
- Keren, Boris;
- Mignot, Cyril;
- Isapof, Arnaud;
- Weiss, Karin;
- Hershkovitz, Tova;
- Iascone, Maria;
- Maitz, Silvia;
- Feichtinger, René G.;
- Kotzot, Dieter;
- Mayr, Johannes A.;
- Ben‐Omran, Tawfeg;
- Mahmoud, Laila
Publication type:
Article
How chromosomal deletions can unmask recessive mutations? Deletions in 10q11.2 associated with CHAT or SLC18A3 mutations lead to congenital myasthenic syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 151, doi. 10.1002/ajmg.a.38515
By:
- Schwartz, Mathias;
- Sternberg, Damien;
- Whalen, Sandra;
- Afenjar, Alexandra;
- Isapof, Arnaud;
- Chabrol, Brigitte;
- Portnoï, Marie‐France;
- Heide, Solveig;
- Keren, Boris;
- Chantot‐Bastaraud, Sandra;
- Siffroi, Jean‐Pierre
Publication type:
Article
Association between prophylactic angiotensin-converting enzyme inhibitors and overall survival in Duchenne muscular dystrophy—analysis of registry data.
Published in:
European Heart Journal, 2021, v. 42, n. 20, p. 1976, doi. 10.1093/eurheartj/ehab054
By:
- Porcher, Raphaël;
- Desguerre, Isabelle;
- Amthor, Helge;
- Chabrol, Brigitte;
- Audic, Frédérique;
- Rivier, François;
- Isapof, Arnaud;
- Tiffreau, Vincent;
- Campana-Salort, Emmanuelle;
- Leturcq, France;
- Tuffery-Giraud, Sylvie;
- Yaou, Rabah Ben;
- Annane, Djillali;
- Amédro, Pascal;
- Barnerias, Christine;
- Bécane, Henri Marc;
- Béhin, Anthony;
- Bonnet, Damien;
- Bassez, Guillaume;
- Cossée, Mireille
Publication type:
Article
GGPS1-associated muscular dystrophy with and without hearing loss.
Published in:
Annals of Clinical & Translational Neurology, 2022, v. 9, n. 9, p. 1465, doi. 10.1002/acn3.51633
By:
- Kaiyrzhanov, Rauan;
- Perry, Luke;
- Rocca, Clarissa;
- Zaki, Maha S.;
- Hosny, Heba;
- Martins Moreno, Cristiane Araujo;
- Phadke, Rahul;
- Zaharieva, Irina;
- Camelo Gontijo, Clara;
- Beetz, Christian;
- Pini, Veronica;
- Movahedinia, Mojtaba;
- Zanoteli, Edmar;
- DiTroia, Stephanie;
- Vuillaumier-Barrot, Sandrine;
- Isapof, Arnaud;
- Mehrjardi, Mohammad Yahya Vahidi;
- Ghasemi, Nasrin;
- Sarkozy, Anna;
- Muntoni, Francesco
Publication type:
Article
JAK inhibitors are effective in a subset of patients with juvenile dermatomyositis: a monocentric retrospective study.
Published in:
Rheumatology, 2021, v. 60, n. 12, p. 5801, doi. 10.1093/rheumatology/keab116
By:
- Voyer, Tom Le;
- Gitiaux, Cyril;
- Authier, François-Jérôme;
- Bodemer, Christine;
- Melki, Isabelle;
- Quartier, Pierre;
- Aeschlimann, Florence;
- Isapof, Arnaud;
- Herbeuval, Jean Philippe;
- Bondet, Vincent;
- Charuel, Jean-Luc;
- Frémond, Marie-Louise;
- Duffy, Darragh;
- Rodero, Mathieu P;
- Bader-Meunier, Brigitte
Publication type:
Article
Muscle ischaemia associated with NXP2 autoantibodies: a severe subtype of juvenile dermatomyositis.
Published in:
Rheumatology, 2018, v. 57, n. 5, p. 873, doi. 10.1093/rheumatology/kex516
By:
- Aouizerate, Jessie;
- Antonio, Marie De;
- Bader-Meunier, Brigitte;
- Barnerias, Christine;
- Bodemer, Christine;
- Isapof, Arnaud;
- Quartier, Pierre;
- Melki, Isabelle;
- Charuel, Jean-Luc;
- Bassez, Guillaume
Publication type:
Article
Effects of nusinersen after one year of treatment in 123 children with SMA type 1 or 2: a French real-life observational study.
Published in:
2020
By:
- Audic, Frédérique;
- de la Banda, Marta Gomez Garcia;
- Bernoux, Delphine;
- Ramirez-Garcia, Paola;
- Durigneux, Julien;
- Barnerias, Christine;
- Isapof, Arnaud;
- Cuisset, Jean-Marie;
- Cances, Claude;
- Richelme, Christian;
- Vuillerot, Carole;
- Laugel, Vincent;
- Ropars, Juliette;
- Altuzarra, Cécilia;
- Espil-Taris, Caroline;
- Walther-Louvier, Ulrike;
- Sabouraud, Pascal;
- Chouchane, Mondher;
- Vanhulle, Catherine;
- Trommsdorff, Valérie
Publication type:
journal article
Clinical and genetic features of patients suffering from CMT4J.
Published in:
Journal of Neurology, 2024, v. 271, n. 3, p. 1355, doi. 10.1007/s00415-023-12076-4
By:
- Beloribi-Djefaflia, Sadia;
- Morales, Raul Juntas;
- Fatehi, Farzad;
- Isapof, Arnaud;
- Servais, Laurent;
- Leonard-Louis, Sarah;
- Michaud, Maud;
- Verdure, Pierre;
- Gidaro, Teresa;
- Pouget, Jean;
- Poinsignon, Vianney;
- Bonello-Palot, Nathalie;
- Attarian, Shahram
Publication type:
Article
Klüver Bucy syndrome following hypoglycaemic coma in a patient with glycogen storage disease type Ib.
Published in:
Journal of Inherited Metabolic Disease, 2010, v. 33, p. 477, doi. 10.1007/s10545-010-9243-y
By:
- Boudjemline, Alix Mollet;
- Isapof, Arnaud;
- Witas, Jean‐Bernard;
- Petit, François M.;
- Gajdos, Vincent;
- Labrune, Philippe
Publication type:
Article
Tacrolimus nephrotoxicity: beware of the association of diarrhea, drug interaction and pharmacogenetics.
Published in:
2010
By:
- Leroy, Sandrine;
- Isapof, Arnaud;
- Fargue, Sonia;
- Fakhoury, May;
- Bensman, Albert;
- Deschênes, Georges;
- Jacqz-Aigrain, Evelyne;
- Ulinski, Tim
Publication type:
Case Study
Real-world multidisciplinary outcomes of onasemnogene abeparvovec monotherapy in patients with spinal muscular atrophy type 1: experience of the French cohort in the first three years of treatment.
Published in:
Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03326-3
By:
- Desguerre, Isabelle;
- Barrois, Rémi;
- Audic, Frédérique;
- Barnerias, Christine;
- Chabrol, Brigitte;
- Davion, Jean Baptiste;
- Durigneux, Julien;
- Espil-Taris, Caroline;
- Gomez-Garcia de la Banda, Marta;
- Guichard, Marine;
- Isapof, Arnaud;
- Nougues, Marie Christine;
- Laugel, Vincent;
- Le Goff, Laure;
- Mercier, Sandra;
- Pervillé, Anne;
- Richelme, Christian;
- Thibaud, Marie;
- Sarret, Catherine;
- Schweitzer, Cyril
Publication type:
Article
Isolated corpus callosum agenesis: a ten-year follow-up after prenatal diagnosis (How are the children without corpus callosum at 10 years of age?).
Published in:
Prenatal Diagnosis, 2012, v. 32, n. 3, p. 277, doi. 10.1002/pd.3824
By:
- Moutard, Marie-Laure;
- Kieffer, Virginie;
- Feingold, Josué;
- Lewin, Fanny;
- Baron, Jean-Michel;
- Adamsbaum, Catherine;
- Gélot, Antoinette;
- Isapof, Arnaud;
- Kieffer, François;
- Villemeur, Thierry Billette
Publication type:
Article
Gross proteinuria post transplant in a child with nephrotic syndrome of the Finnish type—mechanical vs immunological pathogenesis.
Published in:
Nephrology Dialysis Transplantation, 2006, v. 21, n. 12, p. 3579, doi. 10.1093/ndt/gfl459
By:
- Lorton, Fleur;
- Raynot, Jérémy;
- Letavernier, Béatrice;
- Isapof, Arnaud;
- Debiec, Hanna;
- Pressac, Monique;
- Deschênes, Georges;
- Lenoir, Marion;
- Ross-Cerdan, Laurence;
- Grapin, Christine;
- Bensman, Albert;
- Ulinski, Tim
Publication type:
Article
A previously unreported NARS1 variant causes dominant distal hereditary motor neuropathy in a French family.
Published in:
Journal of the Peripheral Nervous System, 2024, v. 29, n. 2, p. 275, doi. 10.1111/jns.12635
By:
- Theuriet, Julian;
- Marte, Sheila;
- Isapof, Arnaud;
- de Becdelièvre, Alix;
- Konyukh, Marina;
- Laureano‐Figueroa, Stephanie M.;
- Latour, Philippe;
- Quadrio, Isabelle;
- Maisonobe, Thierry;
- Antonellis, Anthony;
- Stojkovic, Tanya
Publication type:
Article
New mutation in the β1 propeller domain of LRP4 responsible for congenital myasthenic syndrome associated with Cenani–Lenz syndrome.
Published in:
Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-41008-5
By:
- Masingue, Marion;
- Cattaneo, Olivia;
- Wolff, Nicolas;
- Buon, Céline;
- Sternberg, Damien;
- Euchparmakian, Morgane;
- Boex, Myriam;
- Behin, Anthony;
- Mamchaouhi, Kamel;
- Maisonobe, Thierry;
- Nougues, Marie-Christine;
- Isapof, Arnaud;
- Fontaine, Bertrand;
- Messéant, Julien;
- Eymard, Bruno;
- Strochlic, Laure;
- Bauché, Stéphanie
Publication type:
Article
New mutation in the β1 propeller domain of LRP4 responsible for congenital myasthenic syndrome associated with Cenani–Lenz syndrome.
Published in:
Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-41008-5
By:
- Masingue, Marion;
- Cattaneo, Olivia;
- Wolff, Nicolas;
- Buon, Céline;
- Sternberg, Damien;
- Euchparmakian, Morgane;
- Boex, Myriam;
- Behin, Anthony;
- Mamchaouhi, Kamel;
- Maisonobe, Thierry;
- Nougues, Marie-Christine;
- Isapof, Arnaud;
- Fontaine, Bertrand;
- Messéant, Julien;
- Eymard, Bruno;
- Strochlic, Laure;
- Bauché, Stéphanie
Publication type:
Article

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