Hentati F - Search Results

1

Exome sequencing: an efficient diagnostic tool for complex neurodegenerative disorders.

Hammer MB, Eleuch-Fayache G, Gibbs JR, Arepalli SK, Chong SB, Sassi C, Bouhlal Y, Hentati F, Amouri R, Singleton AB. Hammer MB, et al. Among authors: hentati f. Eur J Neurol. 2013 Mar;20(3):486-492. doi: 10.1111/j.1468-1331.2012.03883.x. Epub 2012 Oct 9. Eur J Neurol. 2013. PMID: 23043354 Free PMC article.

2

Phenotypic features and genetic findings in sacsin-related autosomal recessive ataxia in Tunisia.

El Euch-Fayache G, Lalani I, Amouri R, Turki I, Ouahchi K, Hung WY, Belal S, Siddique T, Hentati F. El Euch-Fayache G, et al. Among authors: hentati f. Arch Neurol. 2003 Jul;60(7):982-8. doi: 10.1001/archneur.60.7.982. Arch Neurol. 2003. PMID: 12873855

3

Molecular, clinical and peripheral neuropathy study of Tunisian patients with ataxia with vitamin E deficiency.

El Euch-Fayache G, Bouhlal Y, Amouri R, Feki M, Hentati F. El Euch-Fayache G, et al. Among authors: hentati f. Brain. 2014 Feb;137(Pt 2):402-10. doi: 10.1093/brain/awt339. Epub 2013 Dec 25. Brain. 2014. PMID: 24369383

4

A novel SACS gene mutation in a Tunisian family.

Bouhlal Y, El Euch-Fayeche G, Hentati F, Amouri R. Bouhlal Y, et al. Among authors: hentati f. J Mol Neurosci. 2009 Nov;39(3):333-6. doi: 10.1007/s12031-009-9212-9. Epub 2009 Jun 16. J Mol Neurosci. 2009. PMID: 19529988

5

Clinical and molecular findings of ataxia with oculomotor apraxia type 2 (AOA2) in 5 Tunisian families.

Hammer MB, El Euch-Fayache G, Nehdi H, Saidi D, Nasri A, Nabli F, Bouhlal Y, Maamouri-Hicheri W, Hentati F, Amouri R. Hammer MB, et al. Among authors: hentati f. Diagn Mol Pathol. 2012 Dec;21(4):241-5. doi: 10.1097/PDM.0b013e318257ad9a. Diagn Mol Pathol. 2012. PMID: 23111195

6

Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity.

Hammer MB, Eleuch-Fayache G, Schottlaender LV, Nehdi H, Gibbs JR, Arepalli SK, Chong SB, Hernandez DG, Sailer A, Liu G, Mistry PK, Cai H, Shrader G, Sassi C, Bouhlal Y, Houlden H, Hentati F, Amouri R, Singleton AB. Hammer MB, et al. Among authors: hentati f. Am J Hum Genet. 2013 Feb 7;92(2):245-51. doi: 10.1016/j.ajhg.2012.12.012. Epub 2013 Jan 17. Am J Hum Genet. 2013. PMID: 23332917 Free PMC article.

7

Clinical features and molecular genetics of two Tunisian families with abetalipoproteinemia.

Hammer MB, El Euch-Fayache G, Nehdi H, Feki M, Maamouri-Hicheri W, Hentati F, Amouri R. Hammer MB, et al. Among authors: hentati f. J Clin Neurosci. 2014 Feb;21(2):311-5. doi: 10.1016/j.jocn.2013.04.016. Epub 2013 Oct 16. J Clin Neurosci. 2014. PMID: 24139731

8

SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families.

Hammer MB, Ding J, Mochel F, Eleuch-Fayache G, Charles P, Coutelier M, Gibbs JR, Arepalli SK, Chong SB, Hernandez DG, Majounie E, Clipman S, Bouhlal Y, Nehdi H, Brice A, Hentati F, Stevanin G, Amouri R, Durr A, Singleton AB. Hammer MB, et al. Among authors: hentati f. Neurodegener Dis. 2017;17(4-5):208-212. doi: 10.1159/000464445. Epub 2017 May 31. Neurodegener Dis. 2017. PMID: 28558379 Free PMC article.

9

Linkage to chromosome 13q11-12 of an autosomal recessive cerebellar ataxia in a Tunisian family.

Mrissa N, Belal S, Hamida CB, Amouri R, Turki I, Mrissa R, Hamida MB, Hentati F. Mrissa N, et al. Among authors: hentati f. Neurology. 2000 Apr 11;54(7):1408-14. doi: 10.1212/wnl.54.7.1408. Neurology. 2000. PMID: 10751248 Clinical Trial.

10

Molecular diagnosis of known recessive ataxias by homozygosity mapping with SNP arrays.

H'mida-Ben Brahim D, M'zahem A, Assoum M, Bouhlal Y, Fattori F, Anheim M, Ali-Pacha L, Ferrat F, Chaouch M, Lagier-Tourenne C, Drouot N, Thibaut C, Benhassine T, Sifi Y, Stoppa-Lyonnet D, N'Guyen K, Poujet J, Hamri A, Hentati F, Amouri R, Santorelli FM, Tazir M, Koenig M. H'mida-Ben Brahim D, et al. Among authors: hentati f. J Neurol. 2011 Jan;258(1):56-67. doi: 10.1007/s00415-010-5682-5. Epub 2010 Aug 27. J Neurol. 2011. PMID: 20798953

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