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Items: 1 to 50 of 67

1.

Prospective natural history study of C9orf72 ALS clinical characteristics and biomarkers.

Cammack AJ, Atassi N, Hyman T, van den Berg LH, Harms M, Baloh RH, Brown RH, van Es MA, Veldink JH, de Vries BS, Rothstein JD, Drain C, Jockel-Balsarotti J, Malcolm A, Boodram S, Salter A, Wightman N, Yu H, Sherman AV, Esparza TJ, McKenna-Yasek D, Owegi MA, Douthwright C; Alzheimer's Disease Neuroimaging Initiative, McCampbell A, Ferguson T, Cruchaga C, Cudkowicz M, Miller TM.

Neurology. 2019 Oct 22;93(17):e1605-e1617. doi: 10.1212/WNL.0000000000008359. Epub 2019 Oct 2.

PMID:
31578300
2.

Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation.

Dominov JA, Uyan Ö, McKenna-Yasek D, Nallamilli BRR, Kergourlay V, Bartoli M, Levy N, Hudson J, Evangelista T, Lochmuller H, Krahn M, Rufibach L, Hegde M, Brown RH Jr.

Ann Clin Transl Neurol. 2019 Mar 3;6(4):642-654. doi: 10.1002/acn3.738. eCollection 2019 Apr.

3.

Randomized trial of l-serine in patients with hereditary sensory and autonomic neuropathy type 1.

Fridman V, Suriyanarayanan S, Novak P, David W, Macklin EA, McKenna-Yasek D, Walsh K, Aziz-Bose R, Oaklander AL, Brown R, Hornemann T, Eichler F.

Neurology. 2019 Jan 22;92(4):e359-e370. doi: 10.1212/WNL.0000000000006811. Epub 2019 Jan 9.

4.

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

Nicolas A, Kenna KP, Renton AE, Ticozzi N, Faghri F, Chia R, Dominov JA, Kenna BJ, Nalls MA, Keagle P, Rivera AM, van Rheenen W, Murphy NA, van Vugt JJFA, Geiger JT, Van der Spek RA, Pliner HA, Shankaracharya, Smith BN, Marangi G, Topp SD, Abramzon Y, Gkazi AS, Eicher JD, Kenna A; ITALSGEN Consortium, Mora G, Calvo A, Mazzini L, Riva N, Mandrioli J, Caponnetto C, Battistini S, Volanti P, La Bella V, Conforti FL, Borghero G, Messina S, Simone IL, Trojsi F, Salvi F, Logullo FO, D'Alfonso S, Corrado L, Capasso M, Ferrucci L; Genomic Translation for ALS Care (GTAC) Consortium, Moreno CAM, Kamalakaran S, Goldstein DB; ALS Sequencing Consortium, Gitler AD, Harris T, Myers RM; NYGC ALS Consortium, Phatnani H, Musunuri RL, Evani US, Abhyankar A, Zody MC; Answer ALS Foundation, Kaye J, Finkbeiner S, Wyman SK, LeNail A, Lima L, Fraenkel E, Svendsen CN, Thompson LM, Van Eyk JE, Berry JD, Miller TM, Kolb SJ, Cudkowicz M, Baxi E; Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium, Benatar M, Taylor JP, Rampersaud E, Wu G, Wuu J; SLAGEN Consortium, Lauria G, Verde F, Fogh I, Tiloca C, Comi GP, Sorarù G, Cereda C; French ALS Consortium, Corcia P, Laaksovirta H, Myllykangas L, Jansson L, Valori M, Ealing J, Hamdalla H, Rollinson S, Pickering-Brown S, Orrell RW, Sidle KC, Malaspina A, Hardy J, Singleton AB, Johnson JO, Arepalli S, Sapp PC, McKenna-Yasek D, Polak M, Asress S, Al-Sarraj S, King A, Troakes C, Vance C, de Belleroche J, Baas F, Ten Asbroek ALMA, Muñoz-Blanco JL, Hernandez DG, Ding J, Gibbs JR, Scholz SW, Floeter MK, Campbell RH, Landi F, Bowser R, Pulst SM, Ravits JM, MacGowan DJL, Kirby J, Pioro EP, Pamphlett R, Broach J, Gerhard G, Dunckley TL, Brady CB, Kowall NW, Troncoso JC, Le Ber I, Mouzat K, Lumbroso S, Heiman-Patterson TD, Kamel F, Van Den Bosch L, Baloh RH, Strom TM, Meitinger T, Shatunov A, Van Eijk KR, de Carvalho M, Kooyman M, Middelkoop B, Moisse M, McLaughlin RL, Van Es MA, Weber M, Boylan KB, Van Blitterswijk M, Rademakers R, Morrison KE, Basak AN, Mora JS, Drory VE, Shaw PJ, Turner MR, Talbot K, Hardiman O, Williams KL, Fifita JA, Nicholson GA, Blair IP, Rouleau GA, Esteban-Pérez J, García-Redondo A, Al-Chalabi A; Project MinE ALS Sequencing Consortium, Rogaeva E, Zinman L, Ostrow LW, Maragakis NJ, Rothstein JD, Simmons Z, Cooper-Knock J, Brice A, Goutman SA, Feldman EL, Gibson SB, Taroni F, Ratti A, Gellera C, Van Damme P, Robberecht W, Fratta P, Sabatelli M, Lunetta C, Ludolph AC, Andersen PM, Weishaupt JH, Camu W, Trojanowski JQ, Van Deerlin VM, Brown RH Jr, van den Berg LH, Veldink JH, Harms MB, Glass JD, Stone DJ, Tienari P, Silani V, Chiò A, Shaw CE, Traynor BJ, Landers JE.

Neuron. 2018 Mar 21;97(6):1268-1283.e6. doi: 10.1016/j.neuron.2018.02.027.

5.

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis.

Kenna KP, van Doormaal PT, Dekker AM, Ticozzi N, Kenna BJ, Diekstra FP, van Rheenen W, van Eijk KR, Jones AR, Keagle P, Shatunov A, Sproviero W, Smith BN, van Es MA, Topp SD, Kenna A, Miller JW, Fallini C, Tiloca C, McLaughlin RL, Vance C, Troakes C, Colombrita C, Mora G, Calvo A, Verde F, Al-Sarraj S, King A, Calini D, de Belleroche J, Baas F, van der Kooi AJ, de Visser M, Ten Asbroek AL, Sapp PC, McKenna-Yasek D, Polak M, Asress S, Muñoz-Blanco JL, Strom TM, Meitinger T, Morrison KE; SLAGEN Consortium, Lauria G, Williams KL, Leigh PN, Nicholson GA, Blair IP, Leblond CS, Dion PA, Rouleau GA, Pall H, Shaw PJ, Turner MR, Talbot K, Taroni F, Boylan KB, Van Blitterswijk M, Rademakers R, Esteban-Pérez J, García-Redondo A, Van Damme P, Robberecht W, Chio A, Gellera C, Drepper C, Sendtner M, Ratti A, Glass JD, Mora JS, Basak NA, Hardiman O, Ludolph AC, Andersen PM, Weishaupt JH, Brown RH Jr, Al-Chalabi A, Silani V, Shaw CE, van den Berg LH, Veldink JH, Landers JE.

Nat Genet. 2016 Sep;48(9):1037-42. doi: 10.1038/ng.3626. Epub 2016 Jul 25.

6.

Reply to comment on: A novel dysferlin mutant pseudoexon bypassed with antisense oligonucleotides.

Dominov JA, Uyan Ö, Sapp PC, McKenna-Yasek D, Nallamilli BR, Hegde M, Brown RH Jr.

Ann Clin Transl Neurol. 2015 Jul;2(7):785. doi: 10.1002/acn3.217. No abstract available.

7.

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways.

Cirulli ET, Lasseigne BN, Petrovski S, Sapp PC, Dion PA, Leblond CS, Couthouis J, Lu YF, Wang Q, Krueger BJ, Ren Z, Keebler J, Han Y, Levy SE, Boone BE, Wimbish JR, Waite LL, Jones AL, Carulli JP, Day-Williams AG, Staropoli JF, Xin WW, Chesi A, Raphael AR, McKenna-Yasek D, Cady J, Vianney de Jong JM, Kenna KP, Smith BN, Topp S, Miller J, Gkazi A; FALS Sequencing Consortium, Al-Chalabi A, van den Berg LH, Veldink J, Silani V, Ticozzi N, Shaw CE, Baloh RH, Appel S, Simpson E, Lagier-Tourenne C, Pulst SM, Gibson S, Trojanowski JQ, Elman L, McCluskey L, Grossman M, Shneider NA, Chung WK, Ravits JM, Glass JD, Sims KB, Van Deerlin VM, Maniatis T, Hayes SD, Ordureau A, Swarup S, Landers J, Baas F, Allen AS, Bedlack RS, Harper JW, Gitler AD, Rouleau GA, Brown R, Harms MB, Cooper GM, Harris T, Myers RM, Goldstein DB.

Science. 2015 Mar 27;347(6229):1436-41. doi: 10.1126/science.aaa3650. Epub 2015 Feb 19.

8.

A novel dysferlin mutant pseudoexon bypassed with antisense oligonucleotides.

Dominov JA, Uyan O, Sapp PC, McKenna-Yasek D, Nallamilli BR, Hegde M, Brown RH Jr.

Ann Clin Transl Neurol. 2014 Sep;1(9):703-20. doi: 10.1002/acn3.96. Epub 2014 Sep 27.

9.

Identifying diagnostic DNA methylation profiles for facioscapulohumeral muscular dystrophy in blood and saliva using bisulfite sequencing.

Jones TI, Yan C, Sapp PC, McKenna-Yasek D, Kang PB, Quinn C, Salameh JS, King OD, Jones PL.

Clin Epigenetics. 2014 Oct 29;6(1):23. doi: 10.1186/1868-7083-6-23. eCollection 2014.

10.

Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.

Smith BN, Ticozzi N, Fallini C, Gkazi AS, Topp S, Kenna KP, Scotter EL, Kost J, Keagle P, Miller JW, Calini D, Vance C, Danielson EW, Troakes C, Tiloca C, Al-Sarraj S, Lewis EA, King A, Colombrita C, Pensato V, Castellotti B, de Belleroche J, Baas F, ten Asbroek AL, Sapp PC, McKenna-Yasek D, McLaughlin RL, Polak M, Asress S, Esteban-Pérez J, Muñoz-Blanco JL, Simpson M; SLAGEN Consortium, van Rheenen W, Diekstra FP, Lauria G, Duga S, Corti S, Cereda C, Corrado L, Sorarù G, Morrison KE, Williams KL, Nicholson GA, Blair IP, Dion PA, Leblond CS, Rouleau GA, Hardiman O, Veldink JH, van den Berg LH, Al-Chalabi A, Pall H, Shaw PJ, Turner MR, Talbot K, Taroni F, García-Redondo A, Wu Z, Glass JD, Gellera C, Ratti A, Brown RH Jr, Silani V, Shaw CE, Landers JE.

Neuron. 2014 Oct 22;84(2):324-31. doi: 10.1016/j.neuron.2014.09.027. Epub 2014 Oct 22.

11.

Partial loss of TDP-43 function causes phenotypes of amyotrophic lateral sclerosis.

Yang C, Wang H, Qiao T, Yang B, Aliaga L, Qiu L, Tan W, Salameh J, McKenna-Yasek DM, Smith T, Peng L, Moore MJ, Brown RH Jr, Cai H, Xu Z.

Proc Natl Acad Sci U S A. 2014 Mar 25;111(12):E1121-9. doi: 10.1073/pnas.1322641111. Epub 2014 Mar 10.

12.

Novel mutation in VCP gene causes atypical amyotrophic lateral sclerosis.

González-Pérez P, Cirulli ET, Drory VE, Dabby R, Nisipeanu P, Carasso RL, Sadeh M, Fox A, Festoff BW, Sapp PC, McKenna-Yasek D, Goldstein DB, Brown RH Jr, Blumen SC.

Neurology. 2012 Nov 27;79(22):2201-8. doi: 10.1212/WNL.0b013e318275963b. Epub 2012 Nov 14.

13.

Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis.

Wu CH, Fallini C, Ticozzi N, Keagle PJ, Sapp PC, Piotrowska K, Lowe P, Koppers M, McKenna-Yasek D, Baron DM, Kost JE, Gonzalez-Perez P, Fox AD, Adams J, Taroni F, Tiloca C, Leclerc AL, Chafe SC, Mangroo D, Moore MJ, Zitzewitz JA, Xu ZS, van den Berg LH, Glass JD, Siciliano G, Cirulli ET, Goldstein DB, Salachas F, Meininger V, Rossoll W, Ratti A, Gellera C, Bosco DA, Bassell GJ, Silani V, Drory VE, Brown RH Jr, Landers JE.

Nature. 2012 Aug 23;488(7412):499-503. doi: 10.1038/nature11280.

14.

Association of UBQLN1 mutation with Brown-Vialetto-Van Laere syndrome but not typical ALS.

González-Pérez P, Lu Y, Chian RJ, Sapp PC, Tanzi RE, Bertram L, McKenna-Yasek D, Gao FB, Brown RH Jr.

Neurobiol Dis. 2012 Dec;48(3):391-8. doi: 10.1016/j.nbd.2012.06.018. Epub 2012 Jul 3.

15.

Mutational analysis reveals the FUS homolog TAF15 as a candidate gene for familial amyotrophic lateral sclerosis.

Ticozzi N, Vance C, Leclerc AL, Keagle P, Glass JD, McKenna-Yasek D, Sapp PC, Silani V, Bosco DA, Shaw CE, Brown RH Jr, Landers JE.

Am J Med Genet B Neuropsychiatr Genet. 2011 Apr;156B(3):285-90. doi: 10.1002/ajmg.b.31158. Epub 2011 Jan 13.

PMID:
21438137
16.

Wild-type and mutant SOD1 share an aberrant conformation and a common pathogenic pathway in ALS.

Bosco DA, Morfini G, Karabacak NM, Song Y, Gros-Louis F, Pasinelli P, Goolsby H, Fontaine BA, Lemay N, McKenna-Yasek D, Frosch MP, Agar JN, Julien JP, Brady ST, Brown RH Jr.

Nat Neurosci. 2010 Nov;13(11):1396-403. doi: 10.1038/nn.2660. Epub 2010 Oct 17.

17.

Mutant FUS proteins that cause amyotrophic lateral sclerosis incorporate into stress granules.

Bosco DA, Lemay N, Ko HK, Zhou H, Burke C, Kwiatkowski TJ Jr, Sapp P, McKenna-Yasek D, Brown RH Jr, Hayward LJ.

Hum Mol Genet. 2010 Nov 1;19(21):4160-75. doi: 10.1093/hmg/ddq335. Epub 2010 Aug 10.

18.

Paraoxonase gene mutations in amyotrophic lateral sclerosis.

Ticozzi N, LeClerc AL, Keagle PJ, Glass JD, Wills AM, van Blitterswijk M, Bosco DA, Rodriguez-Leyva I, Gellera C, Ratti A, Taroni F, McKenna-Yasek D, Sapp PC, Silani V, Furlong CE, Brown RH Jr, Landers JE.

Ann Neurol. 2010 Jul;68(1):102-7. doi: 10.1002/ana.21993.

19.

Mutational analysis of TARDBP in neurodegenerative diseases.

Ticozzi N, LeClerc AL, van Blitterswijk M, Keagle P, McKenna-Yasek DM, Sapp PC, Silani V, Wills AM, Brown RH Jr, Landers JE.

Neurobiol Aging. 2011 Nov;32(11):2096-9. doi: 10.1016/j.neurobiolaging.2009.11.018. Epub 2009 Dec 23.

20.

Analysis of FUS gene mutation in familial amyotrophic lateral sclerosis within an Italian cohort.

Ticozzi N, Silani V, LeClerc AL, Keagle P, Gellera C, Ratti A, Taroni F, Kwiatkowski TJ Jr, McKenna-Yasek DM, Sapp PC, Brown RH Jr, Landers JE.

Neurology. 2009 Oct 13;73(15):1180-5. doi: 10.1212/WNL.0b013e3181bbff05. Epub 2009 Sep 9.

21.

Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis.

Landers JE, Melki J, Meininger V, Glass JD, van den Berg LH, van Es MA, Sapp PC, van Vught PW, McKenna-Yasek DM, Blauw HM, Cho TJ, Polak M, Shi L, Wills AM, Broom WJ, Ticozzi N, Silani V, Ozoguz A, Rodriguez-Leyva I, Veldink JH, Ivinson AJ, Saris CG, Hosler BA, Barnes-Nessa A, Couture N, Wokke JH, Kwiatkowski TJ Jr, Ophoff RA, Cronin S, Hardiman O, Diekstra FP, Leigh PN, Shaw CE, Simpson CL, Hansen VK, Powell JF, Corcia P, Salachas F, Heath S, Galan P, Georges F, Horvitz HR, Lathrop M, Purcell S, Al-Chalabi A, Brown RH Jr.

Proc Natl Acad Sci U S A. 2009 Jun 2;106(22):9004-9. doi: 10.1073/pnas.0812937106. Epub 2009 May 18.

22.

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.

23.

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.

24.

A common haplotype within the PON1 promoter region is associated with sporadic ALS.

Landers JE, Shi L, Cho TJ, Glass JD, Shaw CE, Leigh PN, Diekstra F, Polak M, Rodriguez-Leyva I, Niemann S, Traynor BJ, McKenna-Yasek D, Sapp PC, Al-Chalabi A, Wills AM, Brown RH Jr.

Amyotroph Lateral Scler. 2008 Oct;9(5):306-14. doi: 10.1080/17482960802233177.

25.

50bp deletion in the promoter for superoxide dismutase 1 (SOD1) reduces SOD1 expression in vitro and may correlate with increased age of onset of sporadic amyotrophic lateral sclerosis.

Broom WJ, Greenway M, Sadri-Vakili G, Russ C, Auwarter KE, Glajch KE, Dupre N, Swingler RJ, Purcell S, Hayward C, Sapp PC, McKenna-Yasek D, Valdmanis PN, Bouchard JP, Meininger V, Hosler BA, Glass JD, Polack M, Rouleau GA, Cha JH, Hardiman O, Brown RH Jr.

Amyotroph Lateral Scler. 2008 Aug;9(4):229-37. doi: 10.1080/17482960802103107.

PMID:
18608091
26.

New VAPB deletion variant and exclusion of VAPB mutations in familial ALS.

Landers JE, Leclerc AL, Shi L, Virkud A, Cho T, Maxwell MM, Henry AF, Polak M, Glass JD, Kwiatkowski TJ, Al-Chalabi A, Shaw CE, Leigh PN, Rodriguez-Leyza I, McKenna-Yasek D, Sapp PC, Brown RH Jr.

Neurology. 2008 Apr 1;70(14):1179-85. doi: 10.1212/01.wnl.0000289760.85237.4e. Epub 2008 Mar 5.

PMID:
18322265
27.

Birth order and the genetics of amyotrophic lateral sclerosis.

Vivekananda U, Johnston C, McKenna-Yasek D, Shaw CE, Leigh PN, Brown RH, Al-Chalabi A.

J Neurol. 2008 Jan;255(1):99-102. Epub 2007 Dec 19.

PMID:
18060566
28.

SOD1A4V-mediated ALS: absence of a closely linked modifier gene and origination in Asia.

Broom WJ, Johnson DV, Auwarter KE, Iafrate AJ, Russ C, Al-Chalabi A, Sapp PC, McKenna-Yasek D, Andersen PM, Brown RH Jr.

Neurosci Lett. 2008 Jan 17;430(3):241-5. Epub 2007 Nov 6.

PMID:
18055113
29.

Age at onset in sod1-mediated amyotrophic lateral sclerosis shows familiality.

Fogh I, Rijsdijk F, Andersen PM, Sham PC, Knight J, Neale B, McKenna-Yasek D, Silani V, Brown RH Jr, Powell JF, Al-Chalabi A.

Neurogenetics. 2007 Aug;8(3):235-6. Epub 2007 Jun 5. No abstract available.

PMID:
17549529
30.

Variants in candidate ALS modifier genes linked to Cu/Zn superoxide dismutase do not explain divergent survival phenotypes.

Broom WJ, Russ C, Sapp PC, McKenna-Yasek D, Hosler BA, Andersen PM, Brown RH Jr.

Neurosci Lett. 2006 Jan 9;392(1-2):52-7. Epub 2005 Sep 19. Erratum in: Neurosci Lett. 2006 May 22;399(3):273.

PMID:
16174551
31.

Apolipoprotein E is associated with age at onset of amyotrophic lateral sclerosis.

Li YJ, Pericak-Vance MA, Haines JL, Siddique N, McKenna-Yasek D, Hung WY, Sapp P, Allen CI, Chen W, Hosler B, Saunders AM, Dellefave LM, Brown RH, Siddique T.

Neurogenetics. 2004 Dec;5(4):209-13. Epub 2004 Oct 2.

PMID:
15657798
32.

Failure to detect enterovirus in the spinal cord of ALS patients using a sensitive RT-PCR method.

Nix WA, Berger MM, Oberste MS, Brooks BR, McKenna-Yasek DM, Brown RH Jr, Roos RP, Pallansch MA.

Neurology. 2004 Apr 27;62(8):1372-7.

PMID:
15111676
33.

Identification of two novel loci for dominantly inherited familial amyotrophic lateral sclerosis.

Sapp PC, Hosler BA, McKenna-Yasek D, Chin W, Gann A, Genise H, Gorenstein J, Huang M, Sailer W, Scheffler M, Valesky M, Haines JL, Pericak-Vance M, Siddique T, Horvitz HR, Brown RH Jr.

Am J Hum Genet. 2003 Aug;73(2):397-403. Epub 2003 Jul 9.

34.

Variants in the ALS2 gene are not associated with sporadic amyotrophic lateral sclerosis.

Al-Chalabi A, Hansen VK, Simpson CL, Xi J, Hosler BA, Powell JF, McKenna-Yasek D, Shaw CE, Leigh PN, Brown RH Jr.

Neurogenetics. 2003 Aug;4(4):221-2. Epub 2003 May 27. No abstract available.

PMID:
12768434
35.

A novel mutation in the spastin gene in a family with spastic paraplegia.

Morita M, Ho M, Hosler BA, McKenna-Yasek D, Brown RH Jr.

Neurosci Lett. 2002 May 31;325(1):57-61.

PMID:
12023066
36.

A novel, blood-based diagnostic assay for limb girdle muscular dystrophy 2B and Miyoshi myopathy.

Ho M, Gallardo E, McKenna-Yasek D, De Luna N, Illa I, Brown RH Jr.

Ann Neurol. 2002 Jan;51(1):129-33.

PMID:
11782994
37.

Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy.

Aoki M, Liu J, Richard I, Bashir R, Britton S, Keers SM, Oeltjen J, Brown HE, Marchand S, Bourg N, Beley C, McKenna-Yasek D, Arahata K, Bohlega S, Cupler E, Illa I, Majneh I, Barohn RJ, Urtizberea JA, Fardeau M, Amato A, Angelini C, Bushby K, Beckmann JS, Brown RH Jr.

Neurology. 2001 Jul 24;57(2):271-8.

PMID:
11468312
38.

Linkage of familial amyotrophic lateral sclerosis with frontotemporal dementia to chromosome 9q21-q22.

Hosler BA, Siddique T, Sapp PC, Sailor W, Huang MC, Hossain A, Daube JR, Nance M, Fan C, Kaplan J, Hung WY, McKenna-Yasek D, Haines JL, Pericak-Vance MA, Horvitz HR, Brown RH Jr.

JAMA. 2000 Oct 4;284(13):1664-9.

PMID:
11015796
39.

Lack of association between apolipoprotein E genotype and sporadic amyotrophic lateral sclerosis.

Siddique T, Pericak-Vance MA, Caliendo J, Hong ST, Hung WY, Kaplan J, McKenna-Yasek D, Rimmler JB, Sapp P, Saunders AM, Scott WK, Siddique N, Haines JL, Brown RH.

Neurogenetics. 1998 Mar;1(3):213-6.

PMID:
10737125
40.

Genetic fine mapping of the Miyoshi myopathy locus and exclusion of eight candidate genes.

Bejaoui K, Liu J, McKenna-Yasek D, Le Paslier D, Bossie K, Gilligan DM, Brown RH.

Neurogenetics. 1998 Mar;1(3):189-96.

PMID:
10737122
41.

Identification of two mutations and a polymorphism in the chloride channel CLCN-1 in patients with Becker's generalized myotonia.

Esteban J, Neumeyer AM, McKenna-Yasek D, Brown RH.

Neurogenetics. 1998 Mar;1(3):185-8.

PMID:
10737121
42.

Deletions causing spinal muscular atrophy do not predispose to amyotrophic lateral sclerosis.

Parboosingh JS, Meininger V, McKenna-Yasek D, Brown RH Jr, Rouleau GA.

Arch Neurol. 1999 Jun;56(6):710-2.

PMID:
10369311
43.

Refined mapping and characterization of the recessive familial amyotrophic lateral sclerosis locus (ALS2) on chromosome 2q33.

Hosler BA, Sapp PC, Berger R, O'Neill G, Bejaoui K, Hamida MB, Hentati F, Chin W, McKenna-Yasek D, Haines JL, Patterson D, Horvitz HR, Brown RH Jr, Day CB.

Neurogenetics. 1998 Dec;2(1):34-42.

PMID:
9933298
44.

Confirmation of linkage of type 1 hereditary sensory neuropathy to human chromosome 9q22.

Bejaoui K, McKenna-Yasek D, Hosler BA, Burns-Deater E, Deater LM, O'Neill G, Haines JL, Brown RH Jr.

Neurology. 1999 Feb;52(3):510-5.

PMID:
10025779
45.

Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy.

Liu J, Aoki M, Illa I, Wu C, Fardeau M, Angelini C, Serrano C, Urtizberea JA, Hentati F, Hamida MB, Bohlega S, Culper EJ, Amato AA, Bossie K, Oeltjen J, Bejaoui K, McKenna-Yasek D, Hosler BA, Schurr E, Arahata K, de Jong PJ, Brown RH Jr.

Nat Genet. 1998 Sep;20(1):31-6.

PMID:
9731526
46.

Pilot study of myoblast transfer in the treatment of Becker muscular dystrophy.

Neumeyer AM, Cros D, McKenna-Yasek D, Zawadzka A, Hoffman EP, Pegoraro E, Hunter RG, Munsat TL, Brown RH Jr.

Neurology. 1998 Aug;51(2):589-92.

PMID:
9710042
47.

Limited corticospinal tract involvement in amyotrophic lateral sclerosis subjects with the A4V mutation in the copper/zinc superoxide dismutase gene.

Cudkowicz ME, McKenna-Yasek D, Chen C, Hedley-Whyte ET, Brown RH Jr.

Ann Neurol. 1998 Jun;43(6):703-10.

PMID:
9629839
48.

Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis.

Cudkowicz ME, McKenna-Yasek D, Sapp PE, Chin W, Geller B, Hayden DL, Schoenfeld DA, Hosler BA, Horvitz HR, Brown RH.

Ann Neurol. 1997 Feb;41(2):210-21.

PMID:
9029070
49.

Nigrostriatal dopaminergic function in familial amyotrophic lateral sclerosis patients with and without copper/zinc superoxide dismutase mutations.

Przedborski S, Dhawan V, Donaldson DM, Murphy PL, McKenna-Yasek D, Mandel FS, Brown RH Jr, Eidelberg D.

Neurology. 1996 Dec;47(6):1546-51.

PMID:
8960743
50.

Three novel mutations and two variants in the gene for Cu/Zn superoxide dismutase in familial amyotrophic lateral sclerosis.

Hosler BA, Nicholson GA, Sapp PC, Chin W, Orrell RW, de Belleroche JS, Esteban J, Hayward LJ, Mckenna-Yasek D, Yeung L, Cherryson AK, Dench JE, Wilton SD, Laing NG, Horvitz HR, Brown RH Jr.

Neuromuscul Disord. 1996 Oct;6(5):361-6.

PMID:
8938700

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