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Items: 1 to 20 of 40

1.

A novel mutation in ALS2 associated with severe and progressive infantile onset of spastic paralysis.

Tariq H, Mukhtar S, Naz S.

J Neurogenet. 2017 Mar - Jun;31(1-2):26-29. doi: 10.1080/01677063.2017.1324441. Epub 2017 May 13.

PMID:
28502191
2.

Position Based Nucleotide Analysis of miR168 Family in Higher Plants and its Targets in Mammalian Transcripts.

Javed M, Solanki M, Sinha A, Shukla LI.

Microrna. 2017 Aug 16;6(2):136-142. doi: 10.2174/2211536606666170215154151.

PMID:
28215140
3.

Comprehensive targeted next-generation sequencing in Japanese familial amyotrophic lateral sclerosis.

Nishiyama A, Niihori T, Warita H, Izumi R, Akiyama T, Kato M, Suzuki N, Aoki Y, Aoki M.

Neurobiol Aging. 2017 May;53:194.e1-194.e8. doi: 10.1016/j.neurobiolaging.2017.01.004. Epub 2017 Jan 10.

PMID:
28160950
4.

Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan.

Elsayed LE, Mohammed IN, Hamed AA, Elseed MA, Johnson A, Mairey M, Mohamed HE, Idris MN, Salih MA, El-Sadig SM, Koko ME, Mohamed AY, Raymond L, Coutelier M, Darios F, Siddig RA, Ahmed AK, Babai AM, Malik HM, Omer ZM, Mohamed EO, Eltahir HB, Magboul NA, Bushara EE, Elnour A, Rahim SM, Alattaya A, Elbashir MI, Ibrahim ME, Durr A, Audhya A, Brice A, Ahmed AE, Stevanin G.

Eur J Hum Genet. 2016 Jan;25(1):100-110. doi: 10.1038/ejhg.2016.108. Epub 2016 Sep 7.

5.

Mutations in FUS are the most frequent genetic cause in juvenile sporadic ALS patients of Chinese origin.

Zou ZY, Liu MS, Li XG, Cui LY.

Amyotroph Lateral Scler Frontotemporal Degener. 2016;17(3-4):249-52. doi: 10.3109/21678421.2016.1143012. Epub 2016 Mar 14.

PMID:
26972116
6.

Identification of two novel ALS2 mutations in infantile-onset ascending hereditary spastic paraplegia.

Daud S, Kakar N, Goebel I, Hashmi AS, Yaqub T, Nürnberg G, Nürnberg P, Morris-Rosendahl DJ, Wasim M, Volk AE, Kubisch C, Ahmad J, Borck G.

Amyotroph Lateral Scler Frontotemporal Degener. 2016;17(3-4):260-5. doi: 10.3109/21678421.2015.1125501. Epub 2016 Jan 11.

PMID:
26751646
7.

Identification of mutations in Korean patients with amyotrophic lateral sclerosis using multigene panel testing.

Kim HJ, Oh KW, Kwon MJ, Oh SI, Park JS, Kim YE, Choi BO, Lee S, Ki CS, Kim SH.

Neurobiol Aging. 2016 Jan;37:209.e9-209.e16. doi: 10.1016/j.neurobiolaging.2015.09.012. Epub 2015 Sep 30.

PMID:
26601740
8.

Genetic determination of motor neuron disease and neuropathy.

Vrebalov Cindro P, Vrebalov Cindro V.

Coll Antropol. 2015 Mar;39(1):261-5.

PMID:
26040103
9.

A novel splice-site mutation in ALS2 establishes the diagnosis of juvenile amyotrophic lateral sclerosis in a family with early onset anarthria and generalized dystonias.

Siddiqi S, Foo JN, Vu A, Azim S, Silver DL, Mansoor A, Tay SK, Abbasi S, Hashmi AH, Janjua J, Khalid S, Tai ES, Yeo GW, Khor CC.

PLoS One. 2014 Dec 4;9(12):e113258. doi: 10.1371/journal.pone.0113258. eCollection 2014.

10.

Novel compound heterozygous ALS2 mutations in two Chinese siblings with infantile ascending hereditary spastic paralysis.

Xie F, Cen ZD, Xiao JF, Luo W.

Neurol Sci. 2015 Jul;36(7):1279-80. doi: 10.1007/s10072-014-2018-8. Epub 2014 Nov 30. No abstract available.

PMID:
25433428
11.

Identify mutation in amyotrophic lateral sclerosis cases using HaloPlex target enrichment system.

Liu ZJ, Li HF, Tan GH, Tao QQ, Ni W, Cheng XW, Xiong ZQ, Wu ZY.

Neurobiol Aging. 2014 Dec;35(12):2881.e11-2881.e15. doi: 10.1016/j.neurobiolaging.2014.07.003. Epub 2014 Jul 11.

PMID:
25109764
12.

Dystonia: an update on phenomenology, classification, pathogenesis and treatment.

Balint B, Bhatia KP.

Curr Opin Neurol. 2014 Aug;27(4):468-76. doi: 10.1097/WCO.0000000000000114. Review.

PMID:
24978640
13.

A novel homozygous mutation in ALS2 gene in four siblings with infantile-onset ascending hereditary spastic paralysis.

Eker HK, Unlü SE, Al-Salmi F, Crosby AH.

Eur J Med Genet. 2014 May-Jun;57(6):275-8. doi: 10.1016/j.ejmg.2014.03.006. Epub 2014 Apr 3.

PMID:
24704789
14.

Age-dependent deterioration of locomotion in Drosophila melanogaster deficient in the homologue of amyotrophic lateral sclerosis 2.

Takayama Y, Itoh RE, Tsuyama T, Uemura T.

Genes Cells. 2014 Jun;19(6):464-77. doi: 10.1111/gtc.12146. Epub 2014 Apr 7.

15.

ALS2 mutations: juvenile amyotrophic lateral sclerosis and generalized dystonia.

Sheerin UM, Schneider SA, Carr L, Deuschl G, Hopfner F, Stamelou M, Wood NW, Bhatia KP.

Neurology. 2014 Mar 25;82(12):1065-7. doi: 10.1212/WNL.0000000000000254. Epub 2014 Feb 21.

16.

Recent progress in the genetics of motor neuron disease.

Finsterer J, Burgunder JM.

Eur J Med Genet. 2014 Feb;57(2-3):103-12. doi: 10.1016/j.ejmg.2014.01.002. Epub 2014 Feb 4. Review.

PMID:
24503148
17.

Genetic heterogeneity of amyotrophic lateral sclerosis: implications for clinical practice and research.

Su XW, Broach JR, Connor JR, Gerhard GS, Simmons Z.

Muscle Nerve. 2014 Jun;49(6):786-803. doi: 10.1002/mus.24198. Epub 2014 Apr 8. Review.

PMID:
24488689
18.

Infantile-onset ascending hereditary spastic paraplegia with bulbar involvement due to the novel ALS2 mutation c.2761C>T.

Wakil SM, Ramzan K, Abuthuraya R, Hagos S, Al-Dossari H, Al-Omar R, Murad H, Chedrawi A, Al-Hassnan ZN, Finsterer J, Bohlega S.

Gene. 2014 Feb 15;536(1):217-20. doi: 10.1016/j.gene.2013.11.043. Epub 2013 Dec 4.

PMID:
24315819
19.

Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services.

Roberts JL, Hovanes K, Dasouki M, Manzardo AM, Butler MG.

Gene. 2014 Feb 1;535(1):70-8. doi: 10.1016/j.gene.2013.10.020. Epub 2013 Nov 2.

20.

Infantile-onset ascending hereditary spastic paralysis: a case report and brief literature review.

Racis L, Tessa A, Pugliatti M, Storti E, Agnetti V, Santorelli FM.

Eur J Paediatr Neurol. 2014 Mar;18(2):235-9. doi: 10.1016/j.ejpn.2013.09.009. Epub 2013 Oct 9. Review.

PMID:
24144828

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