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Results: 1 to 20 of 73

1.

When should clinicians search for GLUT1 deficiency syndrome in childhood generalized epilepsies?

Lebon S, Suarez P, Alija S, Korff CM, Fluss J, Mercati D, Datta AN, Poloni C, Marcoz JP, Campos-Xavier AB, Bonafé L, Roulet-Perez E.

Eur J Paediatr Neurol. 2015 Mar;19(2):170-5. doi: 10.1016/j.ejpn.2014.11.009. Epub 2014 Dec 11.

PMID:
25532859
[PubMed - in process]
2.

Phenylbutyrate increases pyruvate dehydrogenase complex activity in cells harboring a variety of defects.

Ferriero R, Boutron A, Brivet M, Kerr D, Morava E, Rodenburg RJ, Bonafé L, Baumgartner MR, Anikster Y, Braverman NE, Brunetti-Pierri N.

Ann Clin Transl Neurol. 2014 Jul;1(7):462-70. doi: 10.1002/acn3.73. Epub 2014 Jun 19.

PMID:
25356417
[PubMed]
Free PMC Article
3.

Positive effects of an angiotensin II type 1 receptor antagonist in Camurati-Engelmann disease: a single case observation.

Simsek-Kiper PO, Dikoglu E, Campos-Xavier B, Utine GE, Bonafe L, Unger S, Boduroglu K, Superti-Furga A.

Am J Med Genet A. 2014 Oct;164A(10):2667-71. doi: 10.1002/ajmg.a.36692. Epub 2014 Aug 5.

PMID:
25099136
[PubMed - in process]
4.

Eight years experience from a skeletal dysplasia referral center in a tertiary hospital in Southern India: a model for the diagnosis and treatment of rare diseases in a developing country.

Nampoothiri S, Yesodharan D, Sainulabdin G, Narayanan D, Padmanabhan L, Girisha KM, Cathey SS, De Paepe A, Malfait F, Syx D, Hennekam RC, Bonafe L, Unger S, Superti-Furga A.

Am J Med Genet A. 2014 Sep;164A(9):2317-23. doi: 10.1002/ajmg.a.36668. Epub 2014 Jul 14.

PMID:
25044831
[PubMed - in process]
5.

Congenital ataxia and hemiplegic migraine with cerebral edema associated with a novel gain of function mutation in the calcium channel CACNA1A.

García Segarra N, Gautschi I, Mittaz-Crettol L, Kallay Zetchi C, Al-Qusairi L, Van Bemmelen MX, Maeder P, Bonafé L, Schild L, Roulet-Perez E.

J Neurol Sci. 2014 Jul 15;342(1-2):69-78. doi: 10.1016/j.jns.2014.04.027. Epub 2014 Apr 27.

PMID:
24836863
[PubMed - in process]
6.

MMP13 mutations are the cause of recessive metaphyseal dysplasia, Spahr type.

Bonafé L, Liang J, Gorna MW, Zhang Q, Ha-Vinh R, Campos-Xavier AB, Unger S, Beckmann JS, Le Béchec A, Stevenson B, Giedion A, Liu X, Superti-Furga G, Wang W, Spahr A, Superti-Furga A.

Am J Med Genet A. 2014 May;164A(5):1175-9. doi: 10.1002/ajmg.a.36431. Epub 2014 Mar 19.

PMID:
24648384
[PubMed - in process]
7.

[Genetics of childhood epilepsies: for who? how? why?].

Lebon S, Campos-Xavier B, Bonafé L, Roulet-Perez E.

Rev Med Suisse. 2014 Jan 15;10(412-413):110-1. French.

PMID:
24558911
[PubMed - indexed for MEDLINE]
8.

Carnitine deficiency in chronic critical illness.

Bonafé L, Berger MM, Que YA, Mechanick JI.

Curr Opin Clin Nutr Metab Care. 2014 Mar;17(2):200-9. doi: 10.1097/MCO.0000000000000037. Review.

PMID:
24500444
[PubMed - indexed for MEDLINE]
9.

Persistent pulmonary arterial hypertension in the newborn (PPHN): a frequent manifestation of TMEM70 defective patients.

Catteruccia M, Verrigni D, Martinelli D, Torraco A, Agovino T, Bonafé L, D'Amico A, Donati MA, Adorisio R, Santorelli FM, Carrozzo R, Bertini E, Dionisi-Vici C.

Mol Genet Metab. 2014 Mar;111(3):353-9. doi: 10.1016/j.ymgme.2014.01.001. Epub 2014 Jan 8.

PMID:
24485043
[PubMed - indexed for MEDLINE]
10.

Homozygosity for a novel truncating mutation confirms TBX15 deficiency as the cause of Cousin syndrome.

Dikoglu E, Simsek-Kiper PO, Utine GE, Campos-Xavier B, Boduroglu K, Bonafé L, Superti-Furga A, Unger S.

Am J Med Genet A. 2013 Dec;161A(12):3161-5. doi: 10.1002/ajmg.a.36173. Epub 2013 Aug 16.

PMID:
24039145
[PubMed - indexed for MEDLINE]
11.

FAM111A mutations result in hypoparathyroidism and impaired skeletal development.

Unger S, Górna MW, Le Béchec A, Do Vale-Pereira S, Bedeschi MF, Geiberger S, Grigelioniene G, Horemuzova E, Lalatta F, Lausch E, Magnani C, Nampoothiri S, Nishimura G, Petrella D, Rojas-Ringeling F, Utsunomiya A, Zabel B, Pradervand S, Harshman K, Campos-Xavier B, Bonafé L, Superti-Furga G, Stevenson B, Superti-Furga A.

Am J Hum Genet. 2013 Jun 6;92(6):990-5. doi: 10.1016/j.ajhg.2013.04.020. Epub 2013 May 16.

PMID:
23684011
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders.

Nakajima M, Mizumoto S, Miyake N, Kogawa R, Iida A, Ito H, Kitoh H, Hirayama A, Mitsubuchi H, Miyazaki O, Kosaki R, Horikawa R, Lai A, Mendoza-Londono R, Dupuis L, Chitayat D, Howard A, Leal GF, Cavalcanti D, Tsurusaki Y, Saitsu H, Watanabe S, Lausch E, Unger S, Bonafé L, Ohashi H, Superti-Furga A, Matsumoto N, Sugahara K, Nishimura G, Ikegawa S.

Am J Hum Genet. 2013 Jun 6;92(6):927-34. doi: 10.1016/j.ajhg.2013.04.003. Epub 2013 May 9.

PMID:
23664117
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Ammonium accumulation and cell death in a rat 3D brain cell model of glutaric aciduria type I.

Jafari P, Braissant O, Zavadakova P, Henry H, Bonafé L, Ballhausen D.

PLoS One. 2013;8(1):e53735. doi: 10.1371/journal.pone.0053735. Epub 2013 Jan 10.

PMID:
23326493
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Brain damage in methylmalonic aciduria: 2-methylcitrate induces cerebral ammonium accumulation and apoptosis in 3D organotypic brain cell cultures.

Jafari P, Braissant O, Zavadakova P, Henry H, Bonafé L, Ballhausen D.

Orphanet J Rare Dis. 2013 Jan 8;8:4. doi: 10.1186/1750-1172-8-4.

PMID:
23298464
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Severe neurologic manifestations from cervical spine instability in spondylo-megaepiphyseal-metaphyseal dysplasia.

Simon M, Campos-Xavier AB, Mittaz-Crettol L, Valadares ER, Carvalho D, Speck-Martins CE, Nampoothiri S, Alanay Y, Mihci E, van Bever Y, Garcia-Segarra N, Cavalcanti D, Mortier G, Bonafé L, Superti-Furga A.

Am J Med Genet C Semin Med Genet. 2012 Aug 15;160C(3):230-7. doi: 10.1002/ajmg.c.31339. Epub 2012 Jul 12.

PMID:
22791571
[PubMed - indexed for MEDLINE]
16.

New topics in the skeletal dysplasias.

Unger S, Bonafé L, Superti-Furga A.

Am J Med Genet C Semin Med Genet. 2012 Aug 15;160C(3):143-4. doi: 10.1002/ajmg.c.31338. Epub 2012 Jul 12. No abstract available.

PMID:
22791564
[PubMed - indexed for MEDLINE]
17.

The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals.

Garcia Segarra N, Mittaz L, Campos-Xavier AB, Bartels CF, Tuysuz B, Alanay Y, Cimaz R, Cormier-Daire V, Di Rocco M, Duba HC, Elcioglu NH, Forzano F, Hospach T, Kilic E, Kuemmerle-Deschner JB, Mortier G, Mrusek S, Nampoothiri S, Obersztyn E, Pauli RM, Selicorni A, Tenconi R, Unger S, Utine GE, Wright M, Zabel B, Warman ML, Superti-Furga A, Bonafé L.

Am J Med Genet C Semin Med Genet. 2012 Aug 15;160C(3):217-29. doi: 10.1002/ajmg.c.31333. Epub 2012 Jul 12. Review.

PMID:
22791401
[PubMed - indexed for MEDLINE]
18.

Extracellular matrix and platelet function in patients with musculocontractural Ehlers-Danlos syndrome caused by mutations in the CHST14 gene.

Mendoza-Londono R, Chitayat D, Kahr WH, Hinek A, Blaser S, Dupuis L, Goh E, Badilla-Porras R, Howard A, Mittaz L, Superti-Furga A, Unger S, Nishimura G, Bonafe L.

Am J Med Genet A. 2012 Jun;158A(6):1344-54. doi: 10.1002/ajmg.a.35339. Epub 2012 May 11.

PMID:
22581468
[PubMed - indexed for MEDLINE]
19.

Mutation analysis of the ATP7B gene in a new group of Wilson's disease patients: contribution to diagnosis.

Lepori MB, Zappu A, Incollu S, Dessì V, Mameli E, Demelia L, Nurchi AM, Gheorghe L, Maggiore G, Sciveres M, Leuzzi V, Indolfi G, Bonafé L, Casali C, Angeli P, Barone P, Cao A, Loudianos G.

Mol Cell Probes. 2012 Aug;26(4):147-50. doi: 10.1016/j.mcp.2012.03.007. Epub 2012 Mar 29.

PMID:
22484412
[PubMed - indexed for MEDLINE]
20.

[New therapies for children affected by bone diseases].

Ballhausen D, Dépraz NG, Kern I, Unger S, Bonafé L.

Rev Med Suisse. 2012 Feb 22;8(329):398-402. French.

PMID:
22432239
[PubMed - indexed for MEDLINE]
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