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Items: 1 to 20 of 500

1.

The investigation of genetic and clinical features in Chinese patients with juvenile amyotrophic lateral sclerosis.

Liu ZJ, Lin HX, Liu GL, Tao QQ, Ni W, Xiao BG, Wu ZY.

Clin Genet. 2017 Mar 16. doi: 10.1111/cge.13015. [Epub ahead of print]

PMID:
28429524
2.

[Localised (juvenile) spongiotic hyperplasia of the gingiva; a less common laesion].

Delli K, Doff JJ, Vissink A, Spijkervet FK.

Ned Tijdschr Tandheelkd. 2017 Feb;124(2):77-80. doi: 10.5177/ntvt.2017.02.16205. Dutch.

PMID:
28186511
3.

A novel mutation of the C-terminal amino acid of FUS (Y526C) strengthens FUS gene as the most frequent genetic factor in aggressive juvenile ALS.

Corcia P, Danel V, Lacour A, Beltran S, Andres C, Couratier P, Blasco H, Vourc'h P.

Amyotroph Lateral Scler Frontotemporal Degener. 2017 Jan 5:1-4. doi: 10.1080/21678421.2016.1265564. [Epub ahead of print]

PMID:
28054830
4.

A Novel Missense Mutation of the DDHD1 Gene Associated with Juvenile Amyotrophic Lateral Sclerosis.

Wu C, Fan D.

Front Aging Neurosci. 2016 Dec 6;8:291. doi: 10.3389/fnagi.2016.00291. eCollection 2016.

5.

Mitochondrial Membrane Protein-Associated Neurodegeneration Mimicking Juvenile Amyotrophic Lateral Sclerosis.

Kim J, Liao YH, Ionita C, Bale AE, Darras B, Acsadi G.

Pediatr Neurol. 2016 Nov;64:83-86. doi: 10.1016/j.pediatrneurol.2016.08.013. Epub 2016 Aug 24.

PMID:
27671242
6.

Functional links between SQSTM1 and ALS2 in the pathogenesis of ALS: cumulative impact on the protection against mutant SOD1-mediated motor dysfunction in mice.

Hadano S, Mitsui S, Pan L, Otomo A, Kubo M, Sato K, Ono S, Onodera W, Abe K, Chen X, Koike M, Uchiyama Y, Aoki M, Warabi E, Yamamoto M, Ishii T, Yanagawa T, Shang HF, Yoshii F.

Hum Mol Genet. 2016 Aug 1;25(15):3321-3340. doi: 10.1093/hmg/ddw180. Epub 2016 Jul 20.

PMID:
27439389
7.

A study of dynamic F-waves in juvenile spinal muscular atrophy of the distal upper extremity (Hirayama disease).

Zheng C, Zhu Y, Yang S, Lu F, Jin X, Weber R, Jiang J.

J Neurol Sci. 2016 Aug 15;367:298-304. doi: 10.1016/j.jns.2016.06.032. Epub 2016 Jun 16.

PMID:
27423607
8.

Molecular cloning, refined chromosomal mapping and structural analysis of the human gene encoding aldehyde oxidase (AOX1), a candidate for the ALS2 gene.

Wright RM, Weigel LK, Varella-Garcia M, Vaitaitis G, Repine JE.

Redox Rep. 1997 Jun;3(3):135-44. doi: 10.1080/13510002.1997.11747101.

PMID:
27406959
9.

Identification of the candidate ALS2 gene at chromosome 2q33 as a human aldehyde oxidase gene.

Wright RM, Vaitaitis GM, Weigel LK, Repine TB, McManaman JL, Repine JE.

Redox Rep. 1995 Nov;1(5):313-21. doi: 10.1080/13510002.1995.11747005.

PMID:
27405828
10.

Clinical trial perspective for adult and juvenile Huntington's disease using genetically-engineered mesenchymal stem cells.

Deng P, Torrest A, Pollock K, Dahlenburg H, Annett G, Nolta JA, Fink KD.

Neural Regen Res. 2016 May;11(5):702-5. doi: 10.4103/1673-5374.182682. Review.

11.

Juvenile amyotrophic lateral sclerosis: Classical wine glass sign on magnetic resonance imaging.

Kumar S, Aga P, Gupta A, Kohli N.

J Pediatr Neurosci. 2016 Jan-Mar;11(1):56-7. doi: 10.4103/1817-1745.181251.

12.

De novo FUS P525L mutation in Juvenile amyotrophic lateral sclerosis with dysphonia and diplopia.

Leblond CS, Webber A, Gan-Or Z, Moore F, Dagher A, Dion PA, Rouleau GA.

Neurol Genet. 2016 Mar 10;2(2):e63. doi: 10.1212/NXG.0000000000000063. eCollection 2016 Apr.

13.

Juvenile-onset Sporadic Amyotrophic Lateral Sclerosis with a Frameshift FUS Gene Mutation Presenting Unique Neuroradiological Findings and Cognitive Impairment.

Hirayanagi K, Sato M, Furuta N, Makioka K, Ikeda Y.

Intern Med. 2016;55(6):689-93. doi: 10.2169/internalmedicine.55.5569. Epub 2016 Mar 15.

14.

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
15.

Utility of whole exome sequencing in evaluation of juvenile motor neuron disease.

Agarwal S, Potocki L, Collier TR, Woodbury SL, Adesina AM, Jones J, Lotze TE.

Muscle Nerve. 2016 Apr;53(4):648-52. doi: 10.1002/mus.25030. Epub 2016 Feb 22.

PMID:
26788680
16.

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
17.

Mutations in SOD1 and FUS caused juvenile-onset sporadic amyotrophic lateral sclerosis with aggressive progression.

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

Ann Transl Med. 2015 Sep;3(15):221. doi: 10.3978/j.issn.2305-5839.2015.09.04.

18.

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.

19.

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
20.

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.

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