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Items: 33

1.

Genetic Analysis of Undiagnosed Juvenile GM1-Gangliosidosis by Microarray and Exome Sequencing.

Bouhouche A, Tibar H, Kriouale Y, Jiddane M, Smaili I, Bouslam N, Benomar A, Yahyaoui M, El Fahime E.

Case Rep Genet. 2018 Nov 15;2018:8635698. doi: 10.1155/2018/8635698. eCollection 2018.

2.

Association of vitamin D status with multiple sclerosis in a case-control study from Morocco.

Skalli A, Ait Ben Haddou EH, El Jaoudi R, Razine R, Mpandzou GA, Tibar H, El Fahime E, Bouslam N, Alami A, Benomar A, Hajjout K, Yahyaoui M, Bouhouche A.

Rev Neurol (Paris). 2018 Mar;174(3):150-156. doi: 10.1016/j.neurol.2017.06.030. Epub 2018 Mar 7.

PMID:
29525037
3.

Mutation Analysis of Consanguineous Moroccan Patients with Parkinson's Disease Combining Microarray and Gene Panel.

Bouhouche A, Tesson C, Regragui W, Rahmani M, Drouet V, Tibar H, Souirti Z, Ben El Haj R, Bouslam N, Yahyaoui M, Brice A, Benomar A, Lesage S.

Front Neurol. 2017 Oct 31;8:567. doi: 10.3389/fneur.2017.00567. eCollection 2017.

4.

Evidence for prehistoric origins of the G2019S mutation in the North African Berber population.

Ben El Haj R, Salmi A, Regragui W, Moussa A, Bouslam N, Tibar H, Benomar A, Yahyaoui M, Bouhouche A.

PLoS One. 2017 Jul 19;12(7):e0181335. doi: 10.1371/journal.pone.0181335. eCollection 2017.

5.

LRRK2 G2019S Mutation: Prevalence and Clinical Features in Moroccans with Parkinson's Disease.

Bouhouche A, Tibar H, Ben El Haj R, El Bayad K, Razine R, Tazrout S, Skalli A, Bouslam N, Elouardi L, Benomar A, Yahyaoui M, Regragui W.

Parkinsons Dis. 2017;2017:2412486. doi: 10.1155/2017/2412486. Epub 2017 Mar 30.

6.

A Novel Homozygous p.L539F Mutation Identified in PINK1 Gene in a Moroccan Patient with Parkinsonism.

Ben El Haj R, Regragui W, Tazi-Ahnini R, Skalli A, Bouslam N, Benomar A, Yahyaoui M, Bouhouche A.

Biomed Res Int. 2016;2016:3460234. doi: 10.1155/2016/3460234. Epub 2016 Jun 20.

7.

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.

Am J Hum Genet. 2016 Jun 2;98(6):1271. doi: 10.1016/j.ajhg.2016.05.009. Epub 2016 Jun 2. No abstract available.

8.

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.

Am J Hum Genet. 2016 May 5;98(5):1038-1046. doi: 10.1016/j.ajhg.2016.04.002. Erratum in: Am J Hum Genet. 2016 Jun 2;98 (6):1271.

9.

Clinical and genetic data of Huntington disease in Moroccan patients.

Bouhouche A, Regragui W, Lamghari H, Khaldi K, Birouk N, Lytim S, Bellamine S, Kriouile Y, Bouslam N, Haddou el HA, Faris MA, Benomar A, Yahyaoui M.

Afr Health Sci. 2015 Dec;15(4):1232-8. doi: 10.4314/ahs.v15i4.23.

10.

Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.

Novarino G, Fenstermaker AG, Zaki MS, Hofree M, Silhavy JL, Heiberg AD, Abdellateef M, Rosti B, Scott E, Mansour L, Masri A, Kayserili H, Al-Aama JY, Abdel-Salam GMH, Karminejad A, Kara M, Kara B, Bozorgmehri B, Ben-Omran T, Mojahedi F, El Din Mahmoud IG, Bouslam N, Bouhouche A, Benomar A, Hanein S, Raymond L, Forlani S, Mascaro M, Selim L, Shehata N, Al-Allawi N, Bindu PS, Azam M, Gunel M, Caglayan A, Bilguvar K, Tolun A, Issa MY, Schroth J, Spencer EG, Rosti RO, Akizu N, Vaux KK, Johansen A, Koh AA, Megahed H, Durr A, Brice A, Stevanin G, Gabriel SB, Ideker T, Gleeson JG.

Science. 2014 Jan 31;343(6170):506-511. doi: 10.1126/science.1247363.

11.

KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction.

Dor T, Cinnamon Y, Raymond L, Shaag A, Bouslam N, Bouhouche A, Gaussen M, Meyer V, Durr A, Brice A, Benomar A, Stevanin G, Schuelke M, Edvardson S.

J Med Genet. 2014 Feb;51(2):137-42. doi: 10.1136/jmedgenet-2013-102012. Epub 2013 Dec 6.

PMID:
24319291
12.

CLN6 p.I154del mutation causing late infantile neuronal ceroid lipofuscinosis in a large consanguineous Moroccan family.

Bouhouche A, Regragui W, El Fahime E, Bouslam N, Tazi-Ahnini R, Melloul M, Benomar A, Yahyaoui M.

Indian J Pediatr. 2013 Aug;80(8):694-6. doi: 10.1007/s12098-012-0889-3. Epub 2012 Nov 22.

PMID:
23180398
13.

Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia.

Tesson C, Nawara M, Salih MA, Rossignol R, Zaki MS, Al Balwi M, Schule R, Mignot C, Obre E, Bouhouche A, Santorelli FM, Durand CM, Oteyza AC, El-Hachimi KH, Al Drees A, Bouslam N, Lamari F, Elmalik SA, Kabiraj MM, Seidahmed MZ, Esteves T, Gaussen M, Monin ML, Gyapay G, Lechner D, Gonzalez M, Depienne C, Mochel F, Lavie J, Schols L, Lacombe D, Yahyaoui M, Al Abdulkareem I, Zuchner S, Yamashita A, Benomar A, Goizet C, Durr A, Gleeson JG, Darios F, Brice A, Stevanin G.

Am J Hum Genet. 2012 Dec 7;91(6):1051-64. doi: 10.1016/j.ajhg.2012.11.001. Epub 2012 Nov 21.

14.

An autosomal recessive leucoencephalopathy with ischemic stroke, dysmorphic syndrome and retinitis pigmentosa maps to chromosome 17q24.2-25.3.

Bouhouche A, Benomar A, Errguig L, Lachhab L, Bouslam N, Aasfara J, Sefiani S, Chabraoui L, El Fahime E, El Quessar A, Jiddane M, Yahyaoui M.

BMC Med Genet. 2012 Mar 21;13:18. doi: 10.1186/1471-2350-13-18.

15.

Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families.

Elleuch N, Bouslam N, Hanein S, Lossos A, Hamri A, Klebe S, Meiner V, Birouk N, Lerer I, Grid D, Bacq D, Tazir M, Zelenika D, Argov Z, Durr A, Yahyaoui M, Benomar A, Brice A, Stevanin G.

Neurogenetics. 2007 Nov;8(4):307-15. Epub 2007 Jul 28.

PMID:
17661097
16.

Spastic paraplegia 5: Locus refinement, candidate gene analysis and clinical description.

Klebe S, Durr A, Bouslam N, Grid D, Paternotte C, Depienne C, Hanein S, Bouhouche A, Elleuch N, Azzedine H, Poea-Guyon S, Forlani S, Denis E, Charon C, Hazan J, Brice A, Stevanin G.

Am J Med Genet B Neuropsychiatr Genet. 2007 Oct 5;144B(7):854-61.

PMID:
17503452
17.

Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.

Stevanin G, Santorelli FM, Azzedine H, Coutinho P, Chomilier J, Denora PS, Martin E, Ouvrard-Hernandez AM, Tessa A, Bouslam N, Lossos A, Charles P, Loureiro JL, Elleuch N, Confavreux C, Cruz VT, Ruberg M, Leguern E, Grid D, Tazir M, Fontaine B, Filla A, Bertini E, Durr A, Brice A.

Nat Genet. 2007 Mar;39(3):366-72. Epub 2007 Feb 18.

PMID:
17322883
18.

A novel locus for autosomal recessive spastic ataxia on chromosome 17p.

Bouslam N, Bouhouche A, Benomar A, Hanein S, Klebe S, Azzedine H, Di Giandomenico S, Boland-Augé A, Santorelli FM, Durr A, Brice A, Yahyaoui M, Stevanin G.

Hum Genet. 2007 May;121(3-4):413-20. Epub 2007 Feb 2.

PMID:
17273843
19.

Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity.

Stevanin G, Montagna G, Azzedine H, Valente EM, Durr A, Scarano V, Bouslam N, Cassandrini D, Denora PS, Criscuolo C, Belarbi S, Orlacchio A, Jonveaux P, Silvestri G, Hernandez AM, De Michele G, Tazir M, Mariotti C, Brockmann K, Malandrini A, van der Knapp MS, Neri M, Tonekaboni H, Melone MA, Tessa A, Dotti MT, Tosetti M, Pauri F, Federico A, Casali C, Cruz VT, Loureiro JL, Zara F, Forlani S, Bertini E, Coutinho P, Filla A, Brice A, Santorelli FM.

Neurogenetics. 2006 Jul;7(3):149-56. Epub 2006 May 13.

PMID:
16699786
20.

Hereditary spastic paraplegia with thin corpus callosum: reduction of the SPG11 interval and evidence for further genetic heterogeneity.

Lossos A, Stevanin G, Meiner V, Argov Z, Bouslam N, Newman JP, Gomori JM, Klebe S, Lerer I, Elleuch N, Silverstein S, Durr A, Abramsky O, Ben-Nariah Z, Brice A.

Arch Neurol. 2006 May;63(5):756-60.

PMID:
16682547
21.

A new phenotype linked to SPG27 and refinement of the critical region on chromosome.

Ribai P, Stevanin G, Bouslam N, Pontier B, Nelson I, Fontaine B, Dussert C, Charon C, Durr A, Brice A.

J Neurol. 2006 Jun;253(6):714-9. Epub 2006 Mar 6.

PMID:
16511635
22.

Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3.

Klebe S, Azzedine H, Durr A, Bastien P, Bouslam N, Elleuch N, Forlani S, Charon C, Koenig M, Melki J, Brice A, Stevanin G.

Brain. 2006 Jun;129(Pt 6):1456-62. Epub 2006 Jan 24.

PMID:
16434418
23.
24.

Autosomal recessive mutilating sensory neuropathy with spastic paraplegia maps to chromosome 5p15.31-14.1.

Bouhouche A, Benomar A, Bouslam N, Ouazzani R, Chkili T, Yahyaoui M.

Eur J Hum Genet. 2006 Feb;14(2):249-52.

25.

New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14.

Klebe S, Durr A, Rentschler A, Hahn-Barma V, Abele M, Bouslam N, Schöls L, Jedynak P, Forlani S, Denis E, Dussert C, Agid Y, Bauer P, Globas C, Wüllner U, Brice A, Riess O, Stevanin G.

Ann Neurol. 2005 Nov;58(5):720-9.

PMID:
16193476
26.

Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28).

Bouslam N, Benomar A, Azzedine H, Bouhouche A, Namekawa M, Klebe S, Charon C, Durr A, Ruberg M, Brice A, Yahyaoui M, Stevanin G.

Ann Neurol. 2005 Apr;57(4):567-71.

PMID:
15786464
27.

Mutation in the catalytic domain of protein kinase C gamma and extension of the phenotype associated with spinocerebellar ataxia type 14.

Stevanin G, Hahn V, Lohmann E, Bouslam N, Gouttard M, Soumphonphakdy C, Welter ML, Ollagnon-Roman E, Lemainque A, Ruberg M, Brice A, Durr A.

Arch Neurol. 2004 Aug;61(8):1242-8.

PMID:
15313841
28.

Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.

Moreira MC, Klur S, Watanabe M, Németh AH, Le Ber I, Moniz JC, Tranchant C, Aubourg P, Tazir M, Schöls L, Pandolfo M, Schulz JB, Pouget J, Calvas P, Shizuka-Ikeda M, Shoji M, Tanaka M, Izatt L, Shaw CE, M'Zahem A, Dunne E, Bomont P, Benhassine T, Bouslam N, Stevanin G, Brice A, Guimarães J, Mendonça P, Barbot C, Coutinho P, Sequeiros J, Dürr A, Warter JM, Koenig M.

Nat Genet. 2004 Mar;36(3):225-7. Epub 2004 Feb 8.

PMID:
14770181
29.

Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients.

Le Ber I, Bouslam N, Rivaud-Péchoux S, Guimarães J, Benomar A, Chamayou C, Goizet C, Moreira MC, Klur S, Yahyaoui M, Agid Y, Koenig M, Stevanin G, Brice A, Dürr A.

Brain. 2004 Apr;127(Pt 4):759-67. Epub 2004 Jan 21.

PMID:
14736755
30.

Spinocerebellar ataxia with sensory neuropathy (SCA25) maps to chromosome 2p.

Stevanin G, Bouslam N, Thobois S, Azzedine H, Ravaux L, Boland A, Schalling M, Broussolle E, Dürr A, Brice A.

Ann Neurol. 2004 Jan;55(1):97-104.

PMID:
14705117
31.

High incidence of SMN1 gene deletion in Moroccan adult-onset spinal muscular atrophy patients.

Bouhouche A, Benomar A, Birouk N, Bouslam N, Ouazzani R, Yahyaoui M, Chkili T.

J Neurol. 2003 Oct;250(10):1209-13.

PMID:
14586604
32.

Clinical comparison between AVED patients with 744 del A mutation and Friedreich ataxia with GAA expansion in 15 Moroccan families.

Benomar A, Yahyaoui M, Meggouh F, Bouhouche A, Boutchich M, Bouslam N, Zaim A, Schmitt M, Belaidi H, Ouazzani R, Chkili T, Koenig M.

J Neurol Sci. 2002 Jun 15;198(1-2):25-9.

PMID:
12039660
33.

Vitamin E deficiency ataxia associated with adenoma.

Benomar A, Yahyaoui M, Marzouki N, Birouk N, Bouslam N, Belaidi H, Amarti A, Ouazzani R, Chkili T.

J Neurol Sci. 1999 Jan 1;162(1):97-101.

PMID:
10064178

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