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Items: 1 to 20 of 100

1.

Ethical and policy issues in genetic testing and screening of children.

COMMITTEE ON BIOETHICS; COMMITTEE ON GENETICS, AND; AMERICAN COLLEGE OF MEDICAL GENETICS AND; GENOMICS SOCIAL; ETHICAL; LEGAL ISSUES COMMITTEE.

Pediatrics. 2013 Mar;131(3):620-2. doi: 10.1542/peds.2012-3680. Epub 2013 Feb 21.

2.

Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72.

Murray ME, DeJesus-Hernandez M, Rutherford NJ, Baker M, Duara R, Graff-Radford NR, Wszolek ZK, Ferman TJ, Josephs KA, Boylan KB, Rademakers R, Dickson DW.

Acta Neuropathol. 2011 Dec;122(6):673-90. doi: 10.1007/s00401-011-0907-y. Epub 2011 Nov 15.

3.

Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS.

DeJesus-Hernandez M, Mackenzie IR, Boeve BF, Boxer AL, Baker M, Rutherford NJ, Nicholson AM, Finch NA, Flynn H, Adamson J, Kouri N, Wojtas A, Sengdy P, Hsiung GY, Karydas A, Seeley WW, Josephs KA, Coppola G, Geschwind DH, Wszolek ZK, Feldman H, Knopman DS, Petersen RC, Miller BL, Dickson DW, Boylan KB, Graff-Radford NR, Rademakers R.

Neuron. 2011 Oct 20;72(2):245-56. doi: 10.1016/j.neuron.2011.09.011. Epub 2011 Sep 21.

4.

Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia.

Deng HX, Chen W, Hong ST, Boycott KM, Gorrie GH, Siddique N, Yang Y, Fecto F, Shi Y, Zhai H, Jiang H, Hirano M, Rampersaud E, Jansen GH, Donkervoort S, Bigio EH, Brooks BR, Ajroud K, Sufit RL, Haines JL, Mugnaini E, Pericak-Vance MA, Siddique T.

Nature. 2011 Aug 21;477(7363):211-5. doi: 10.1038/nature10353.

5.

Differential involvement of optineurin in amyotrophic lateral sclerosis with or without SOD1 mutations.

Deng HX, Bigio EH, Zhai H, Fecto F, Ajroud K, Shi Y, Yan J, Mishra M, Ajroud-Driss S, Heller S, Sufit R, Siddique N, Mugnaini E, Siddique T.

Arch Neurol. 2011 Aug;68(8):1057-61. doi: 10.1001/archneurol.2011.178.

6.

Exome sequencing reveals VCP mutations as a cause of familial ALS.

Johnson JO, Mandrioli J, Benatar M, Abramzon Y, Van Deerlin VM, Trojanowski JQ, Gibbs JR, Brunetti M, Gronka S, Wuu J, Ding J, McCluskey L, Martinez-Lage M, Falcone D, Hernandez DG, Arepalli S, Chong S, Schymick JC, Rothstein J, Landi F, Wang YD, Calvo A, Mora G, Sabatelli M, Monsurrò MR, Battistini S, Salvi F, Spataro R, Sola P, Borghero G; ITALSGEN Consortium, Galassi G, Scholz SW, Taylor JP, Restagno G, Chiò A, Traynor BJ.

Neuron. 2010 Dec 9;68(5):857-64. doi: 10.1016/j.neuron.2010.11.036. Erratum in: Neuron. 2011 Jan 27;69(2):397.

7.

Mutations of optineurin in amyotrophic lateral sclerosis.

Maruyama H, Morino H, Ito H, Izumi Y, Kato H, Watanabe Y, Kinoshita Y, Kamada M, Nodera H, Suzuki H, Komure O, Matsuura S, Kobatake K, Morimoto N, Abe K, Suzuki N, Aoki M, Kawata A, Hirai T, Kato T, Ogasawara K, Hirano A, Takumi T, Kusaka H, Hagiwara K, Kaji R, Kawakami H.

Nature. 2010 May 13;465(7295):223-6. doi: 10.1038/nature08971. Epub 2010 Apr 28.

PMID:
20428114
8.

FUS mutations in amyotrophic lateral sclerosis: clinical, pathological, neurophysiological and genetic analysis.

Blair IP, Williams KL, Warraich ST, Durnall JC, Thoeng AD, Manavis J, Blumbergs PC, Vucic S, Kiernan MC, Nicholson GA.

J Neurol Neurosurg Psychiatry. 2010 Jun;81(6):639-45. doi: 10.1136/jnnp.2009.194399. Epub 2009 Dec 3.

PMID:
19965854
9.

Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6.

Vance C, Rogelj B, Hortobágyi T, De Vos KJ, Nishimura AL, Sreedharan J, Hu X, Smith B, Ruddy D, Wright P, Ganesalingam J, Williams KL, Tripathi V, Al-Saraj S, Al-Chalabi A, Leigh PN, Blair IP, Nicholson G, de Belleroche J, Gallo JM, Miller CC, Shaw CE.

Science. 2009 Feb 27;323(5918):1208-1211. doi: 10.1126/science.1165942.

10.

Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis.

Kwiatkowski TJ Jr, Bosco DA, Leclerc AL, Tamrazian E, Vanderburg CR, Russ C, Davis A, Gilchrist J, Kasarskis EJ, Munsat T, Valdmanis P, Rouleau GA, Hosler BA, Cortelli P, de Jong PJ, Yoshinaga Y, Haines JL, Pericak-Vance MA, Yan J, Ticozzi N, Siddique T, McKenna-Yasek D, Sapp PC, Horvitz HR, Landers JE, Brown RH Jr.

Science. 2009 Feb 27;323(5918):1205-8. doi: 10.1126/science.1166066.

11.

Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS.

Chow CY, Landers JE, Bergren SK, Sapp PC, Grant AE, Jones JM, Everett L, Lenk GM, McKenna-Yasek DM, Weisman LS, Figlewicz D, Brown RH, Meisler MH.

Am J Hum Genet. 2009 Jan;84(1):85-8. doi: 10.1016/j.ajhg.2008.12.010.

12.

Mutations of the ANG gene in French patients with sporadic amyotrophic lateral sclerosis.

Paubel A, Violette J, Amy M, Praline J, Meininger V, Camu W, Corcia P, Andres CR, Vourc'h P; French Amyotrophic Lateral Sclerosis (ALS) Study Group.

Arch Neurol. 2008 Oct;65(10):1333-6. doi: 10.1001/archneur.65.10.1333.

PMID:
18852347
13.

Two German kindreds with familial amyotrophic lateral sclerosis due to TARDBP mutations.

Kühnlein P, Sperfeld AD, Vanmassenhove B, Van Deerlin V, Lee VM, Trojanowski JQ, Kretzschmar HA, Ludolph AC, Neumann M.

Arch Neurol. 2008 Sep;65(9):1185-9. doi: 10.1001/archneur.65.9.1185.

14.

TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis.

Van Deerlin VM, Leverenz JB, Bekris LM, Bird TD, Yuan W, Elman LB, Clay D, Wood EM, Chen-Plotkin AS, Martinez-Lage M, Steinbart E, McCluskey L, Grossman M, Neumann M, Wu IL, Yang WS, Kalb R, Galasko DR, Montine TJ, Trojanowski JQ, Lee VM, Schellenberg GD, Yu CE.

Lancet Neurol. 2008 May;7(5):409-16. doi: 10.1016/S1474-4422(08)70071-1. Epub 2008 Apr 7.

15.

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis.

Kabashi E, Valdmanis PN, Dion P, Spiegelman D, McConkey BJ, Vande Velde C, Bouchard JP, Lacomblez L, Pochigaeva K, Salachas F, Pradat PF, Camu W, Meininger V, Dupre N, Rouleau GA.

Nat Genet. 2008 May;40(5):572-4. doi: 10.1038/ng.132. Epub 2008 Mar 30.

PMID:
18372902
16.

TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis.

Sreedharan J, Blair IP, Tripathi VB, Hu X, Vance C, Rogelj B, Ackerley S, Durnall JC, Williams KL, Buratti E, Baralle F, de Belleroche J, Mitchell JD, Leigh PN, Al-Chalabi A, Miller CC, Nicholson G, Shaw CE.

Science. 2008 Mar 21;319(5870):1668-72. doi: 10.1126/science.1154584. Epub 2008 Feb 28.

17.

Lithium delays progression of amyotrophic lateral sclerosis.

Fornai F, Longone P, Cafaro L, Kastsiuchenka O, Ferrucci M, Manca ML, Lazzeri G, Spalloni A, Bellio N, Lenzi P, Modugno N, Siciliano G, Isidoro C, Murri L, Ruggieri S, Paparelli A.

Proc Natl Acad Sci U S A. 2008 Feb 12;105(6):2052-7. doi: 10.1073/pnas.0708022105. Epub 2008 Feb 4. Erratum in: Proc Natl Acad Sci U S A. 2008 Oct 21;105(42):16404-7.

18.

Identification of new ANG gene mutations in a large cohort of Italian patients with amyotrophic lateral sclerosis.

Gellera C, Colombrita C, Ticozzi N, Castellotti B, Bragato C, Ratti A, Taroni F, Silani V.

Neurogenetics. 2008 Feb;9(1):33-40. Epub 2007 Dec 18.

PMID:
18087731
19.

Angiogenin loss-of-function mutations in amyotrophic lateral sclerosis.

Wu D, Yu W, Kishikawa H, Folkerth RD, Iafrate AJ, Shen Y, Xin W, Sims K, Hu GF.

Ann Neurol. 2007 Dec;62(6):609-17.

20.

A novel Angiogenin gene mutation in a sporadic patient with amyotrophic lateral sclerosis from southern Italy.

Conforti FL, Sprovieri T, Mazzei R, Ungaro C, La Bella V, Tessitore A, Patitucci A, Magariello A, Gabriele AL, Tedeschi G, Simone IL, Majorana G, Valentino P, Condino F, Bono F, Monsurrò MR, Muglia M, Quattrone A.

Neuromuscul Disord. 2008 Jan;18(1):68-70. Epub 2007 Aug 20.

PMID:
17703939

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