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Items: 1 to 20 of 96

1.

DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4).

Chen YZ, Bennett CL, Huynh HM, Blair IP, Puls I, Irobi J, Dierick I, Abel A, Kennerson ML, Rabin BA, Nicholson GA, Auer-Grumbach M, Wagner K, De Jonghe P, Griffin JW, Fischbeck KH, Timmerman V, Cornblath DR, Chance PF.

Am J Hum Genet. 2004 Jun;74(6):1128-35. Epub 2004 Apr 21.

2.

A gene for autosomal dominant juvenile amyotrophic lateral sclerosis (ALS4) localizes to a 500-kb interval on chromosome 9q34.

Blair IP, Bennett CL, Abel A, Rabin BA, Griffin JW, Fischbeck KH, Cornblath DR, Chance PF.

Neurogenetics. 2000 Sep;3(1):1-6.

PMID:
11085590
3.

Linkage of the gene for an autosomal dominant form of juvenile amyotrophic lateral sclerosis to chromosome 9q34.

Chance PF, Rabin BA, Ryan SG, Ding Y, Scavina M, Crain B, Griffin JW, Cornblath DR.

Am J Hum Genet. 1998 Mar;62(3):633-40.

4.

Protein interaction analysis of senataxin and the ALS4 L389S mutant yields insights into senataxin post-translational modification and uncovers mutant-specific binding with a brain cytoplasmic RNA-encoded peptide.

Bennett CL, Chen Y, Vignali M, Lo RS, Mason AG, Unal A, Huq Saifee NP, Fields S, La Spada AR.

PLoS One. 2013 Nov 11;8(11):e78837. doi: 10.1371/journal.pone.0078837. eCollection 2013.

5.

Senataxin mutations elicit motor neuron degeneration phenotypes and yield TDP-43 mislocalization in ALS4 mice and human patients.

Bennett CL, Dastidar SG, Ling SC, Malik B, Ashe T, Wadhwa M, Miller DB, Lee C, Mitchell MB, van Es MA, Grunseich C, Chen Y, Sopher BL, Greensmith L, Cleveland DW, La Spada AR.

Acta Neuropathol. 2018 May 3. doi: 10.1007/s00401-018-1852-9. [Epub ahead of print]

PMID:
29725819
6.

Autosomal dominant juvenile amyotrophic lateral sclerosis.

Rabin BA, Griffin JW, Crain BJ, Scavina M, Chance PF, Cornblath DR.

Brain. 1999 Aug;122 ( Pt 8):1539-50.

PMID:
10430837
7.

The SETX missense variation spectrum as evaluated in patients with ALS4-like motor neuron diseases.

Arning L, Epplen JT, Rahikkala E, Hendrich C, Ludolph AC, Sperfeld AD.

Neurogenetics. 2013 Feb;14(1):53-61. doi: 10.1007/s10048-012-0347-4. Epub 2012 Nov 6.

PMID:
23129421
8.

Autosomal dominant juvenile amyotrophic lateral sclerosis and distal hereditary motor neuronopathy with pyramidal tract signs: synonyms for the same disorder?

De Jonghe P, Auer-Grumbach M, Irobi J, Wagner K, Plecko B, Kennerson M, Zhu D, De Vriendt E, Van Gerwen V, Nicholson G, Hartung HP, Timmerman V.

Brain. 2002 Jun;125(Pt 6):1320-5.

PMID:
12023320
9.

Mutation in the senataxin gene found in a patient affected by familial ALS with juvenile onset and slow progression.

Avemaria F, Lunetta C, Tarlarini C, Mosca L, Maestri E, Marocchi A, Melazzini M, Penco S, Corbo M.

Amyotroph Lateral Scler. 2011 May;12(3):228-30. doi: 10.3109/17482968.2011.566930. Epub 2011 Mar 28.

PMID:
21438761
10.

Senataxin mutations and amyotrophic lateral sclerosis.

Hirano M, Quinzii CM, Mitsumoto H, Hays AP, Roberts JK, Richard P, Rowland LP.

Amyotroph Lateral Scler. 2011 May;12(3):223-7. doi: 10.3109/17482968.2010.545952. Epub 2010 Dec 29.

PMID:
21190393
11.

SETX gene mutation in a family diagnosed autosomal dominant proximal spinal muscular atrophy.

Rudnik-Schöneborn S, Arning L, Epplen JT, Zerres K.

Neuromuscul Disord. 2012 Mar;22(3):258-62. doi: 10.1016/j.nmd.2011.09.006. Epub 2011 Nov 15.

PMID:
22088787
12.

In cis autosomal dominant mutation of Senataxin associated with tremor/ataxia syndrome.

Bassuk AG, Chen YZ, Batish SD, Nagan N, Opal P, Chance PF, Bennett CL.

Neurogenetics. 2007 Jan;8(1):45-9. Epub 2006 Nov 10.

PMID:
17096168
13.

Mutation of senataxin alters disease-specific transcriptional networks in patients with ataxia with oculomotor apraxia type 2.

Fogel BL, Cho E, Wahnich A, Gao F, Becherel OJ, Wang X, Fike F, Chen L, Criscuolo C, De Michele G, Filla A, Collins A, Hahn AF, Gatti RA, Konopka G, Perlman S, Lavin MF, Geschwind DH, Coppola G.

Hum Mol Genet. 2014 Sep 15;23(18):4758-69. doi: 10.1093/hmg/ddu190. Epub 2014 Apr 23.

14.

Autosomal recessive ataxia with peripheral neuropathy and elevated AFP: novel mutations in SETX.

Asaka T, Yokoji H, Ito J, Yamaguchi K, Matsushima A.

Neurology. 2006 May 23;66(10):1580-1.

PMID:
16717225
15.

High-throughput sequencing revealed a novel SETX mutation in a Hungarian patient with amyotrophic lateral sclerosis.

Tripolszki K, Török D, Goudenège D, Farkas K, Sulák A, Török N, Engelhardt JI, Klivényi P, Procaccio V, Nagy N, Széll M.

Brain Behav. 2017 Mar 15;7(4):e00669. doi: 10.1002/brb3.669. eCollection 2017 Apr.

16.

[A amyotrophic lateral sclerosis (ALS) 4 family misdiagnosed as hereditary spastic paraplegia-a case report].

Taniguchi T, Hokezu Y, Okada T, Ishibashi M, Hashiguchi A, Matsuura E, Takashima H.

Rinsho Shinkeigaku. 2017 Nov 25;57(11):685-690. doi: 10.5692/clinicalneurol.cn-000996. Epub 2017 Oct 26. Japanese.

PMID:
29070749
17.

Inflammatory radiculoneuropathy in an ALS4 patient with a novel SETX mutation.

Saiga T, Tateishi T, Torii T, Kawamura N, Nagara Y, Shigeto H, Hashiguchi A, Takashima H, Honda H, Ohyagi Y, Kira J.

J Neurol Neurosurg Psychiatry. 2012 Jul;83(7):763-4. doi: 10.1136/jnnp-2012-302281. Epub 2012 May 10. No abstract available.

PMID:
22577233
18.

Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p.

Hsiung GY, DeJesus-Hernandez M, Feldman HH, Sengdy P, Bouchard-Kerr P, Dwosh E, Butler R, Leung B, Fok A, Rutherford NJ, Baker M, Rademakers R, Mackenzie IR.

Brain. 2012 Mar;135(Pt 3):709-22. doi: 10.1093/brain/awr354. Epub 2012 Feb 17.

19.

"Pseudodominant inheritance" of ataxia with ocular apraxia type 2 (AOA2).

Schöls L, Arning L, Schüle R, Epplen JT, Timmann D.

J Neurol. 2008 Apr;255(4):495-501. doi: 10.1007/s00415-008-0707-z. Epub 2008 Mar 20.

PMID:
18350359
20.

Chapter 15 Juvenile amyotrophic lateral sclerosis.

Orban P, Devon RS, Hayden MR, Leavitt BR.

Handb Clin Neurol. 2007;82:301-12. doi: 10.1016/S0072-9752(07)80018-2.

PMID:
18808900

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