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Results: 1 to 20 of 140

Similar articles for PubMed (Select 18569450)

1.

Autosomal recessive ataxia caused by three distinct gene defects in a single consanguineous family.

Bouhlal Y, Zouari M, Kefi M, Ben Hamida C, Hentati F, Amouri R.

J Neurogenet. 2008;22(2):139-48. doi: 10.1080/01677060802025233.

PMID:
18569450
2.

Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia.

Hamza W, Ali Pacha L, Hamadouche T, Muller J, Drouot N, Ferrat F, Makri S, Chaouch M, Tazir M, Koenig M, Benhassine T.

BMC Med Genet. 2015 Jun 12;16:36. doi: 10.1186/s12881-015-0180-3.

3.

CONSANGUINITY AND HOMOZYGOSITY AMONG TUNISIAN PATIENTS WITH AN AUTOSOMAL RECESSIVE DISORDER.

Kelmemi W, Chelly I, Kharrat M, Chaabouni-Bouhamed H.

J Biosoc Sci. 2015 Jan 29:1-9. [Epub ahead of print]

PMID:
25630711
4.

Ataxia with vitamin e deficiency in norway.

Elkamil A, Johansen KK, Aasly J.

J Mov Disord. 2015 Jan;8(1):33-6. doi: 10.14802/jmd.14030. Epub 2015 Jan 13.

5.

Identifying genes responsible for intellectual disability in consanguineous families.

Iqbal Z, van Bokhoven H.

Hum Hered. 2014;77(1-4):150-60. doi: 10.1159/000360539. Epub 2014 Jul 29.

PMID:
25060278
6.

Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families.

Makrythanasis P, Nelis M, Santoni FA, Guipponi M, Vannier A, Béna F, Gimelli S, Stathaki E, Temtamy S, Mégarbané A, Masri A, Aglan MS, Zaki MS, Bottani A, Fokstuen S, Gwanmesia L, Aliferis K, Bustamante Eduardo M, Stamoulis G, Psoni S, Kitsiou-Tzeli S, Fryssira H, Kanavakis E, Al-Allawi N, Sefiani A, Al Hait S, Elalaoui SC, Jalkh N, Al-Gazali L, Al-Jasmi F, Bouhamed HC, Abdalla E, Cooper DN, Hamamy H, Antonarakis SE.

Hum Mutat. 2014 Oct;35(10):1203-10. doi: 10.1002/humu.22617. Epub 2014 Aug 18.

PMID:
25044680
7.

Autosomal recessive cerebellar ataxia of adult onset due to STUB1 mutations.

Depondt C, Donatello S, Simonis N, Rai M, van Heurck R, Abramowicz M, D'Hooghe M, Pandolfo M.

Neurology. 2014 May 13;82(19):1749-50. doi: 10.1212/WNL.0000000000000416. Epub 2014 Apr 9.

PMID:
24719489
8.

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.

Brain. 2014 Feb;137(Pt 2):402-10. doi: 10.1093/brain/awt339. Epub 2013 Dec 25.

9.

Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation.

Liu YT, Hersheson J, Plagnol V, Fawcett K, Duberley KE, Preza E, Hargreaves IP, Chalasani A, Laurá M, Wood NW, Reilly MM, Houlden H.

J Neurol Neurosurg Psychiatry. 2014 May;85(5):493-8. doi: 10.1136/jnnp-2013-306483. Epub 2013 Nov 11.

10.

Exome sequencing as a diagnostic tool for pediatric-onset ataxia.

Sawyer SL, Schwartzentruber J, Beaulieu CL, Dyment D, Smith A, Warman Chardon J, Yoon G, Rouleau GA, Suchowersky O, Siu V, Murphy L, Hegele RA, Marshall CR; FORGE Canada Consortium, Bulman DE, Majewski J, Tarnopolsky M, Boycott KM.

Hum Mutat. 2014 Jan;35(1):45-9.

11.

Novel mutations in typical and atypical genetic loci through exome sequencing in autosomal recessive cerebellar ataxia families.

Faruq M, Narang A, Kumari R, Pandey R, Garg A, Behari M, Dash D, Srivastava AK, Mukerji M.

Clin Genet. 2014 Oct;86(4):335-41. doi: 10.1111/cge.12279. Epub 2013 Oct 13.

PMID:
24102492
12.

SYNE1 mutations in autosomal recessive cerebellar ataxia.

Noreau A, Bourassa CV, Szuto A, Levert A, Dobrzeniecka S, Gauthier J, Forlani S, Durr A, Anheim M, Stevanin G, Brice A, Bouchard JP, Dion PA, Dupré N, Rouleau GA.

JAMA Neurol. 2013 Oct;70(10):1296-31.

PMID:
23959263
13.

Mutations in VLDLR associated with ataxia with secondary vitamin E deficiency.

Kruer MC, Jepperson TN, Weimer JM, Mroch A, Davis-Keppen L, Crotwell P, Parboosingh J.

Mov Disord. 2013 Nov;28(13):1904-5. doi: 10.1002/mds.25573. Epub 2013 Jun 27. No abstract available.

PMID:
23813796
14.

Inhabitual autosomal recessive form of dentin dysplasia type I in a large consanguineous Moroccan family.

Cherkaoui Jaouad I, El Alloussi M, Laarabi FZ, Bouhouche A, Ameziane R, Sefiani A.

Eur J Med Genet. 2013 Aug;56(8):442-4. doi: 10.1016/j.ejmg.2013.05.003. Epub 2013 May 24.

PMID:
23712319
15.

Normal spermatogenesis and sperm function in a subject affected by cerebellar ataxia due to congenital vitamin E deficiency.

Rossato M, Mariotti C.

Andrologia. 2014 Apr;46(3):322-4. doi: 10.1111/and.12076. Epub 2013 Feb 28.

PMID:
23445347
16.

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.

Am J Hum Genet. 2013 Feb 7;92(2):245-51. doi: 10.1016/j.ajhg.2012.12.012. Epub 2013 Jan 17.

17.

[Recent advance in genetic study of hereditary autosomal recessive cerebellar ataxia].

Guan WJ, Wang JL, Tang BS.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2012 Dec;29(6):673-6. doi: 10.3760/cma.j.issn.1003-9406.2012.06.010. Review. Chinese.

PMID:
23225047
18.

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.

Diagn Mol Pathol. 2012 Dec;21(4):241-5. doi: 10.1097/PDM.0b013e318257ad9a.

PMID:
23111195
19.

A novel SACS mutation in an atypical case with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).

Miyatake S, Miyake N, Doi H, Saitsu H, Ogata K, Kawai M, Matsumoto N.

Intern Med. 2012;51(16):2221-6. Epub 2012 Aug 15.

20.

The autosomal recessive cerebellar ataxias.

Anheim M, Tranchant C, Koenig M.

N Engl J Med. 2012 Feb 16;366(7):636-46. doi: 10.1056/NEJMra1006610. Review. No abstract available.

PMID:
22335741
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