Format
Sort by

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 180

1.

C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population.

Sabatelli M, Conforti FL, Zollino M, Mora G, Monsurrò MR, Volanti P, Marinou K, Salvi F, Corbo M, Giannini F, Battistini S, Penco S, Lunetta C, Quattrone A, Gambardella A, Logroscino G, Simone I, Bartolomei I, Pisano F, Tedeschi G, Conte A, Spataro R, La Bella V, Caponnetto C, Mancardi G, Mandich P, Sola P, Mandrioli J, Renton AE, Majounie E, Abramzon Y, Marrosu F, Marrosu MG, Murru MR, Sotgiu MA, Pugliatti M, Rodolico C; ITALSGEN Consortium, Moglia C, Calvo A, Ossola I, Brunetti M, Traynor BJ, Borghero G, Restagno G, Chiò A.

Neurobiol Aging. 2012 Aug;33(8):1848.e15-20. doi: 10.1016/j.neurobiolaging.2012.02.011. Epub 2012 Mar 13.

2.

High frequency of the expanded C9ORF72 hexanucleotide repeat in familial and sporadic Greek ALS patients.

Mok KY, Koutsis G, Schottlaender LV, Polke J, Panas M, Houlden H.

Neurobiol Aging. 2012 Aug;33(8):1851.e1-5. doi: 10.1016/j.neurobiolaging.2012.02.021. Epub 2012 Mar 22.

3.

Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72.

Chiò A, Borghero G, Restagno G, Mora G, Drepper C, Traynor BJ, Sendtner M, Brunetti M, Ossola I, Calvo A, Pugliatti M, Sotgiu MA, Murru MR, Marrosu MG, Marrosu F, Marinou K, Mandrioli J, Sola P, Caponnetto C, Mancardi G, Mandich P, La Bella V, Spataro R, Conte A, Monsurrò MR, Tedeschi G, Pisano F, Bartolomei I, Salvi F, Lauria Pinter G, Simone I, Logroscino G, Gambardella A, Quattrone A, Lunetta C, Volanti P, Zollino M, Penco S, Battistini S; ITALSGEN consortium, Renton AE, Majounie E, Abramzon Y, Conforti FL, Giannini F, Corbo M, Sabatelli M.

Brain. 2012 Mar;135(Pt 3):784-93. doi: 10.1093/brain/awr366.

4.

Analysis of the C9orf72 hexanucleotide repeat expansion in Korean patients with familial and sporadic amyotrophic lateral sclerosis.

Jang JH, Kwon MJ, Choi WJ, Oh KW, Koh SH, Ki CS, Kim SH.

Neurobiol Aging. 2013 Apr;34(4):1311.e7-9. doi: 10.1016/j.neurobiolaging.2012.09.004. Epub 2012 Oct 22.

PMID:
23088937
5.

CGG-repeat expansion in FMR1 is not associated with amyotrophic lateral sclerosis.

Groen EJ, van Rheenen W, Koppers M, van Doormaal PT, Vlam L, Diekstra FP, Dooijes D, Pasterkamp RJ, van den Berg LH, Veldink JH.

Neurobiol Aging. 2012 Aug;33(8):1852.e1-3. doi: 10.1016/j.neurobiolaging.2012.03.007. Epub 2012 Apr 15.

PMID:
22507827
6.

Identification of C9orf72 repeat expansions in patients with amyotrophic lateral sclerosis and frontotemporal dementia in mainland China.

Jiao B, Tang B, Liu X, Yan X, Zhou L, Yang Y, Wang J, Xia K, Shen L.

Neurobiol Aging. 2014 Apr;35(4):936.e19-22. doi: 10.1016/j.neurobiolaging.2013.10.001. Epub 2013 Oct 5.

PMID:
24269022
7.

Screening for C9ORF72 repeat expansion in FTLD.

Ferrari R, Mok K, Moreno JH, Cosentino S, Goldman J, Pietrini P, Mayeux R, Tierney MC, Kapogiannis D, Jicha GA, Murrell JR, Ghetti B, Wassermann EM, Grafman J, Hardy J, Huey ED, Momeni P.

Neurobiol Aging. 2012 Aug;33(8):1850.e1-11. doi: 10.1016/j.neurobiolaging.2012.02.017. Epub 2012 Mar 27.

8.

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study.

Majounie E, Renton AE, Mok K, Dopper EG, Waite A, Rollinson S, Chiò A, Restagno G, Nicolaou N, Simon-Sanchez J, van Swieten JC, Abramzon Y, Johnson JO, Sendtner M, Pamphlett R, Orrell RW, Mead S, Sidle KC, Houlden H, Rohrer JD, Morrison KE, Pall H, Talbot K, Ansorge O; Chromosome 9-ALS/FTD Consortium; French research network on FTLD/FTLD/ALS; ITALSGEN Consortium, Hernandez DG, Arepalli S, Sabatelli M, Mora G, Corbo M, Giannini F, Calvo A, Englund E, Borghero G, Floris GL, Remes AM, Laaksovirta H, McCluskey L, Trojanowski JQ, Van Deerlin VM, Schellenberg GD, Nalls MA, Drory VE, Lu CS, Yeh TH, Ishiura H, Takahashi Y, Tsuji S, Le Ber I, Brice A, Drepper C, Williams N, Kirby J, Shaw P, Hardy J, Tienari PJ, Heutink P, Morris HR, Pickering-Brown S, Traynor BJ.

Lancet Neurol. 2012 Apr;11(4):323-30. doi: 10.1016/S1474-4422(12)70043-1. Epub 2012 Mar 9.

9.

Genetic architecture of ALS in Sardinia.

Borghero G, Pugliatti M, Marrosu F, Marrosu MG, Murru MR, Floris G, Cannas A, Parish LD, Occhineri P, Cau TB, Loi D, Ticca A, Traccis S, Manera U, Canosa A, Moglia C, Calvo A, Barberis M, Brunetti M, Pliner HA, Renton AE, Nalls MA, Traynor BJ, Restagno G, Chiò A; ITALSGEN and SARDINALS Consortia.

Neurobiol Aging. 2014 Dec;35(12):2882.e7-2882.e12. doi: 10.1016/j.neurobiolaging.2014.07.012. Epub 2014 Jul 18.

10.

ALS/FTD phenotype in two Sardinian families carrying both C9ORF72 and TARDBP mutations.

Chiò A, Restagno G, Brunetti M, Ossola I, Calvo A, Canosa A, Moglia C, Floris G, Tacconi P, Marrosu F, Marrosu MG, Murru MR, Majounie E, Renton AE, Abramzon Y, Pugliatti M, Sotgiu MA, Traynor BJ, Borghero G; SARDINIALS Consortium.

J Neurol Neurosurg Psychiatry. 2012 Jul;83(7):730-3. doi: 10.1136/jnnp-2012-302219. Epub 2012 May 1.

11.

A hexanucleotide repeat expansion in C9ORF72 causes familial and sporadic ALS in Taiwan.

Tsai CP, Soong BW, Tu PH, Lin KP, Fuh JL, Tsai PC, Lu YC, Lee IH, Lee YC.

Neurobiol Aging. 2012 Sep;33(9):2232.e11-2232.e18. doi: 10.1016/j.neurobiolaging.2012.05.002. Epub 2012 Jun 5.

PMID:
22673113
12.

ATAXIN2 CAG-repeat length in Italian patients with amyotrophic lateral sclerosis: risk factor or variant phenotype? Implication for genetic testing and counseling.

Gellera C, Ticozzi N, Pensato V, Nanetti L, Castucci A, Castellotti B, Lauria G, Taroni F, Silani V, Mariotti C.

Neurobiol Aging. 2012 Aug;33(8):1847.e15-21. doi: 10.1016/j.neurobiolaging.2012.02.004. Epub 2012 Mar 16.

PMID:
22425256
13.

The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions.

Simón-Sánchez J, Dopper EG, Cohn-Hokke PE, Hukema RK, Nicolaou N, Seelaar H, de Graaf JR, de Koning I, van Schoor NM, Deeg DJ, Smits M, Raaphorst J, van den Berg LH, Schelhaas HJ, De Die-Smulders CE, Majoor-Krakauer D, Rozemuller AJ, Willemsen R, Pijnenburg YA, Heutink P, van Swieten JC.

Brain. 2012 Mar;135(Pt 3):723-35. doi: 10.1093/brain/awr353. Epub 2012 Feb 1.

14.

[C9orf72 in Japanese amyotrophic lateral sclerosis (ALS)].

Tomiyama H.

Rinsho Shinkeigaku. 2013;53(11):1074-6. Japanese.

PMID:
24291883
15.

The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder.

Smith BN, Newhouse S, Shatunov A, Vance C, Topp S, Johnson L, Miller J, Lee Y, Troakes C, Scott KM, Jones A, Gray I, Wright J, Hortobágyi T, Al-Sarraj S, Rogelj B, Powell J, Lupton M, Lovestone S, Sapp PC, Weber M, Nestor PJ, Schelhaas HJ, Asbroek AA, Silani V, Gellera C, Taroni F, Ticozzi N, Van den Berg L, Veldink J, Van Damme P, Robberecht W, Shaw PJ, Kirby J, Pall H, Morrison KE, Morris A, de Belleroche J, Vianney de Jong JM, Baas F, Andersen PM, Landers J, Brown RH Jr, Weale ME, Al-Chalabi A, Shaw CE.

Eur J Hum Genet. 2013 Jan;21(1):102-8. doi: 10.1038/ejhg.2012.98. Epub 2012 Jun 13.

16.

Novel evidence of phenotypical variability in the hexanucleotide repeat expansion in chromosome 9.

Cerami C, Marcone A, Galimberti D, Zamboni M, Fenoglio C, Serpente M, Scarpini E, Cappa SF.

J Alzheimers Dis. 2013;35(3):455-62. doi: 10.3233/JAD-122302.

PMID:
23435409
17.

ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion.

Chiò A, Mora G, Sabatelli M, Caponnetto C, Lunetta C, Traynor BJ, Johnson JO, Nalls MA, Calvo A, Moglia C, Borghero G, Trojsi F, La Bella V, Volanti P, Simone I, Salvi F, Logullo FO, Riva N, Carrera P, Giannini F, Mandrioli J, Tanel R, Capasso M, Tremolizzo L, Battistini S, Murru MR, Origone P, Zollino M, Penco S; ITALSGEN consortium; SARDINIALS consortium, Mazzini L, D'Alfonso S, Restagno G, Brunetti M, Barberis M, Conforti FL.

Neurobiol Aging. 2016 Mar;39:218.e5-8. doi: 10.1016/j.neurobiolaging.2015.11.027. Epub 2015 Dec 8.

PMID:
26733254
18.

Familial Lund frontotemporal dementia caused by C9ORF72 hexanucleotide expansion.

Englund E, Gustafson L, Passant U, Majounie E, Renton AE, Traynor BJ, Rohrer JD, Mok K, Hardy J.

Neurobiol Aging. 2012 Aug;33(8):1850.e13-6. doi: 10.1016/j.neurobiolaging.2012.02.019. Epub 2012 Apr 6.

19.

Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: a population-based cohort study.

Byrne S, Elamin M, Bede P, Shatunov A, Walsh C, Corr B, Heverin M, Jordan N, Kenna K, Lynch C, McLaughlin RL, Iyer PM, O'Brien C, Phukan J, Wynne B, Bokde AL, Bradley DG, Pender N, Al-Chalabi A, Hardiman O.

Lancet Neurol. 2012 Mar;11(3):232-40. doi: 10.1016/S1474-4422(12)70014-5. Epub 2012 Feb 3. Erratum in: Lancet Neurol. 2012 May;11(5):388.

20.

C9ORF72 repeat expansions not detected in a group of patients with schizophrenia.

Huey ED, Nagy PL, Rodriguez-Murillo L, Manoochehri M, Goldman J, Lieberman J, Karayiorgou M, Mayeux R.

Neurobiol Aging. 2013 Apr;34(4):1309.e9-10. doi: 10.1016/j.neurobiolaging.2012.08.011. Epub 2012 Oct 1.

Items per page

Supplemental Content

Write to the Help Desk