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Tyrosine kinase inhibitor NVP-BGJ398 functionally improves FGFR3-related dwarfism in mouse model.

Komla-Ebri D. Dambroise E, Kramer I, Benoist- Lasselin C, Kaci N, Le Gall C, Martin L, Busca P, Barbault F, Graus-Porta D, Munnich A, Kneissel M, Di Rocco F, Biosse- Duplan M, Legeai-Mallet L.

J Clin Invest. 2016 126(5):1871-84.


Efficacy of the janus kinase 1/2 inhibitor ruxolitinib in the treatment of vasculopathy associated with TMEM173-activating mutations in three children.

Frémond ML. Rodero MP, Jeremiah N, Belot A, Jeziorski E, Duffy D, Bessis D, Cros G, Rice GI, Charbit B, Hulin A, Khoudour N, Caballero CM, Bodemer C, Fabre M, Berteloot L, Le Bourgeois M, Reix P, Walzer T, Moshous D, Blanche S, Fischer A, Bader-Meunier B, Rieux-Laucat F, Crow YJ, Neven B.

J Allergy Clin Immunol. 2016 138(6):1752-1755.


Mutations in SNORD118 cause cerebral microangiopathy leukoencephalopathy with calcifications and cysts.

Jenkinson EM. Rodero MP, Kasher PR, Uggenti C, Oojageer A, Goosey LC, Rose Y, Kershaw CJ, Urquhart JE, Williams SG, Bhaskar SS, O'Sullivan J, Baerlocher GM, Haubitz M, Aubert G, Barañano KW, Barnicoat AJ, Battini R, Berger A, Blair EM, Brunstrom-Hernandez JE, Buckard JA, Cassiman DM, Caumes R, Cordelli DM, De Waele LM, Fay AJ, Ferreira P, Fletcher NA, Fryer AE, Goel H, Hemingway CA, Henneke M, Hughes I, Jefferson RJ, Kumar R, Lagae L, Landrieu PG, Lourenço CM, Malpas TJ, Mehta SG, Metz I, Naidu S, Õunap K, Panzer A, Prabhakar P, Quaghebeur G, Schiffmann R, Sherr EH, Sinnathuray KR, Soh C, Stewart HS, Stone J, Van Esch H, Van Mol CE, Vanderver A, Wakeling EL, Whitney A, Pavitt GD, Griffiths-Jones S, Rice GI, Revy P, van der Knaap MS, Livingston JH, O'Keefe RT, Crow YJ.

Nat Genet. 2016 48(10):1185-92


Midostaurin in Advanced Systemic Mastocytosis.

Chandesris MO. Damaj G, Canioni D, Brouzes C, Lhermitte L, Hanssens K, Frenzel L, Cherquaoui Z, Durieu I, Durupt S, Gyan E, Beyne-Rauzy O, Launay D, Faure C, Hamidou M, Besnard S, Diouf M, Schiffmann A, Niault M, Jeandel PY, Ranta D, Gressin R, Chantepie S, Barete S, Dubreuil P, Bourget P, Lortholary O, Hermine O; CEREMAST Study Group.

N Engl J Med. 2016 374(26):2605


Targeted exon skipping restores type VII collagen expression and anchoring fibril formation in an in vivo RDEB model.

Turczynski S. Titeux M, Tonasso L, Décha A, Ishida- Yamamoto A, Hovnanian A.

J Invest Dermatol. 2016 136(12):2387-2395.


High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood.

Collet M. Assouline Z, Bonnet D, Rio M, Iserin F, Sidi D, Goldenberg A, Lardennois C, Metodiev MD, Haberberger B, Haack T, Munnich A, Prokisch H, Rötig A.

Eur J Hum Genet. 2016 24(8):1112-6.


Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies.

Metodiev MD. Thompson K, Alston CL, Morris AA, He L, Assouline Z, Rio M, Bahi- Buisson N, Pyle A, Griffin H, Siira S, Filipovska A, Munnich A, Chinnery PF, McFarland R, Rötig A, Taylor RW.

Am J Hum Genet. 2016 98:993-1000


Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency.

Sánchez-Caballero L. Ruzzenente B, Bianchi L, Assouline Z, Barcia G, Metodiev MD, Rio M, Funalot B, van den Brand MA, Guerrero-Castillo S, Molenaar JP, Koolen D, Brandt U, Rodenburg RJ, Nijtmans LG, Rötig A.

Am J Hum Genet. 2016 99(1):208-16


Combined use of Saccharomyces cerevisiae, Caenorhabditis elegans and patient fibroblasts leads to the identification of clofilium tosylate as a potential therapeutic chemical against POLG-related diseases.

Pitayu L. Baruffini E, Rodier C, Rötig A, Lodi T, Delahodde A.

Hum Mol Genet. 2016 25:715-27


Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome.

Gerber S. Alzayady KJ, Burglen L, Brémond-Gignac D, Marchesin V, Roche O, Rio M, Funalot B, Calmon R, Durr A, Gil-da-Silva-Lopes VL, Ribeiro Bittar MF, Orssaud C, Héron B, Ayoub E, Berquin P, Bahi-Buisson N, Bole C, Masson C, Munnich A, Simons M, Delous M, Dollfus H, Boddaert N, Lyonnet S, Kaplan J, Calvas P, Yule DI, Rozet JM, Fares Taie L.

Am J Hum Genet. 2016 98(5):971-80


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