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Page 1
Identification of a novel homozygous SPG7 mutation by whole exome sequencing in a Greek family with a complicated form of hereditary spastic paraplegia.
Daoud H, Papadima EM, Ouled Amar Bencheikh B, Katsila T, Dionne-Laporte A, Spiegelman D, Dion PA, Patrinos GP, Orrù S, Rouleau GA. Daoud H, et al. Among authors: ouled amar bencheikh b. Eur J Med Genet. 2015 Nov;58(11):573-7. doi: 10.1016/j.ejmg.2015.08.001. Epub 2015 Aug 7. Eur J Med Genet. 2015. PMID: 26260707
Exome sequencing identifies recessive CDK5RAP2 variants in patients with isolated agenesis of corpus callosum.
Jouan L, Ouled Amar Bencheikh B, Daoud H, Dionne-Laporte A, Dobrzeniecka S, Spiegelman D, Rochefort D, Hince P, Szuto A, Lassonde M, Barbelanne M, Tsang WY, Dion PA, Théoret H, Rouleau GA. Jouan L, et al. Among authors: ouled amar bencheikh b. Eur J Hum Genet. 2016 Apr;24(4):607-10. doi: 10.1038/ejhg.2015.156. Epub 2015 Jul 22. Eur J Hum Genet. 2016. PMID: 26197979 Free PMC article.
Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia.
Gan-Or Z, Bouslam N, Birouk N, Lissouba A, Chambers DB, Vérièpe J, Androschuk A, Laurent SB, Rochefort D, Spiegelman D, Dionne-Laporte A, Szuto A, Liao M, Figlewicz DA, Bouhouche A, Benomar A, Yahyaoui M, Ouazzani R, Yoon G, Dupré N, Suchowersky O, Bolduc FV, Parker JA, Dion PA, Drapeau P, Rouleau GA, Ouled Amar Bencheikh B. Gan-Or Z, et al. Among authors: ouled amar bencheikh b. Am J Hum Genet. 2016 May 5;98(5):1038-1046. doi: 10.1016/j.ajhg.2016.04.002. Am J Hum Genet. 2016. PMID: 27153400 Free PMC article.
A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome.
Gauthier J, Ouled Amar Bencheikh B, Hamdan FF, Harrison SM, Baker LA, Couture F, Thiffault I, Ouazzani R, Samuels ME, Mitchell GA, Rouleau GA, Michaud JL, Soucy JF. Gauthier J, et al. Among authors: ouled amar bencheikh b. Eur J Hum Genet. 2015 Sep;23(9):1266-8. doi: 10.1038/ejhg.2014.256. Epub 2014 Nov 19. Eur J Hum Genet. 2015. PMID: 25407000 Free PMC article.
Sequencing of the GBA coactivator, Saposin C, in Parkinson disease.
Ouled Amar Bencheikh B, Leveille E, Ruskey JA, Spiegelman D, Liong C, Fon EA, Rouleau GA, Dauvilliers Y, Dupre N, Alcalay RN, Gan-Or Z. Ouled Amar Bencheikh B, et al. Neurobiol Aging. 2018 Dec;72:187.e1-187.e3. doi: 10.1016/j.neurobiolaging.2018.06.034. Epub 2018 Jul 2. Neurobiol Aging. 2018. PMID: 30037697 Free PMC article.
Genetic, Structural, and Functional Evidence Link TMEM175 to Synucleinopathies.
Krohn L, Öztürk TN, Vanderperre B, Ouled Amar Bencheikh B, Ruskey JA, Laurent SB, Spiegelman D, Postuma RB, Arnulf I, Hu MTM, Dauvilliers Y, Högl B, Stefani A, Monaca CC, Plazzi G, Antelmi E, Ferini-Strambi L, Heidbreder A, Rudakou U, Cochen De Cock V, Young P, Wolf P, Oliva P, Zhang XK, Greenbaum L, Liong C, Gagnon JF, Desautels A, Hassin-Baer S, Montplaisir JY, Dupré N, Rouleau GA, Fon EA, Trempe JF, Lamoureux G, Alcalay RN, Gan-Or Z. Krohn L, et al. Among authors: ouled amar bencheikh b. Ann Neurol. 2020 Jan;87(1):139-153. doi: 10.1002/ana.25629. Epub 2019 Nov 18. Ann Neurol. 2020. PMID: 31658403
Variants in the Niemann-Pick type C gene NPC1 are not associated with Parkinson's disease.
Ouled Amar Bencheikh B, Senkevich K, Rudakou U, Yu E, Mufti K, Ruskey JA, Asayesh F, Laurent SB, Spiegelman D, Fahn S, Waters C, Monchi O, Dauvilliers Y, Espay AJ, Dupré N, Greenbaum L, Hassin-Baer S, Rouleau GA, Alcalay RN, Fon EA, Gan-Or Z. Ouled Amar Bencheikh B, et al. Neurobiol Aging. 2020 Sep;93:143.e1-143.e4. doi: 10.1016/j.neurobiolaging.2020.03.021. Epub 2020 Apr 8. Neurobiol Aging. 2020. PMID: 32371106 Free PMC article.
LRRK2 protective haplotype and full sequencing study in REM sleep behavior disorder.
Ouled Amar Bencheikh B, Ruskey JA, Arnulf I, Dauvilliers Y, Monaca CC, De Cock VC, Gagnon JF, Spiegelman D, Hu MTM, Högl B, Stefani A, Ferini-Strambi L, Plazzi G, Antelmi E, Young P, Heidbreder A, Mollenhauer B, Sixel-Döring F, Trenkwalder C, Oertel W, Montplaisir JY, Postuma RB, Rouleau GA, Gan-Or Z. Ouled Amar Bencheikh B, et al. Parkinsonism Relat Disord. 2018 Jul;52:98-101. doi: 10.1016/j.parkreldis.2018.03.019. Epub 2018 Mar 21. Parkinsonism Relat Disord. 2018. PMID: 29576439
16 results