BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

136 related articles for article (PubMed ID: 38720484)

  • 1. A homozygous p.Val120Leu (c.358G > C) SOD1 mutation led to slowly progressive amyotrophic lateral sclerosis in a Brazilian family.
    Fernandes JMA; Gondim FAA
    Amyotroph Lateral Scler Frontotemporal Degener; 2024 May; ():1-3. PubMed ID: 38720484
    [TBL] [Abstract][Full Text] [Related]  

  • 2. SOD1 mutations in amyotrophic lateral sclerosis. Results from a multicenter Italian study.
    Battistini S; Giannini F; Greco G; Bibbò G; Ferrera L; Marini V; Causarano R; Casula M; Lando G; Patrosso MC; Caponnetto C; Origone P; Marocchi A; Del Corona A; Siciliano G; Carrera P; Mascia V; Giagheddu M; Carcassi C; Orrù S; Garrè C; Penco S
    J Neurol; 2005 Jul; 252(7):782-8. PubMed ID: 15789135
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Novel SOD1 mutation p.V31A identified with a slowly progressive form of amyotrophic lateral sclerosis.
    Dangoumau A; Verschueren A; Hammouche E; Papon MA; Blasco H; Cherpi-Antar C; Pouget J; Corcia P; Andres CR; Vourc'h P
    Neurobiol Aging; 2014 Jan; 35(1):266.e1-4. PubMed ID: 23954173
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Phenotype of transgenic mice carrying a very low copy number of the mutant human G93A superoxide dismutase-1 gene associated with amyotrophic lateral sclerosis.
    Deitch JS; Alexander GM; Bensinger A; Yang S; Jiang JT; Heiman-Patterson TD
    PLoS One; 2014; 9(6):e99879. PubMed ID: 24945277
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A novel 10-base pair insertion mutation in exon 5 of the SOD1 gene in a Chinese family with amyotrophic lateral sclerosis.
    Chen S; Li M; Zhu W; Mao F; Wang J; Sun Z; Huang X
    Neurobiol Aging; 2016 Sep; 45():212.e1-212.e4. PubMed ID: 27297615
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Pathological Modification of TDP-43 in Amyotrophic Lateral Sclerosis with SOD1 Mutations.
    Jeon GS; Shim YM; Lee DY; Kim JS; Kang M; Ahn SH; Shin JY; Geum D; Hong YH; Sung JJ
    Mol Neurobiol; 2019 Mar; 56(3):2007-2021. PubMed ID: 29982983
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A novel p.N66T mutation in exon 3 of the SOD1 gene: report of two families of ALS patients with early cognitive impairment.
    Martinelli I; Zucchi E; Gessani A; Fini N; Chiò A; Pecoraro V; Trenti T; Mandrioli J
    Amyotroph Lateral Scler Frontotemporal Degener; 2020 May; 21(3-4):296-300. PubMed ID: 32248719
    [No Abstract]   [Full Text] [Related]  

  • 8. A mechanism for low penetrance in an ALS family with a novel SOD1 deletion.
    Zinman L; Liu HN; Sato C; Wakutani Y; Marvelle AF; Moreno D; Morrison KE; Mohlke KL; Bilbao J; Robertson J; Rogaeva E
    Neurology; 2009 Mar; 72(13):1153-9. PubMed ID: 19332692
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Amyotrophic lateral sclerosis: a new missense mutation in the SOD1 gene.
    Tortelli R; Conforti FL; Cortese R; D'Errico E; Distaso E; Mazzei R; Ungaro C; Magariello A; Gambardella A; Logroscino G; Simone IL
    Neurobiol Aging; 2013 Jun; 34(6):1709.e3-5. PubMed ID: 23182243
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Superoxide dismutase gene mutations in Italian patients with familial and sporadic amyotrophic lateral sclerosis: identification of three novel missense mutations.
    Gellera C; Castellotti B; Riggio MC; Silani V; Morandi L; Testa D; Casali C; Taroni F; Di Donato S; Zeviani M; Mariotti C
    Neuromuscul Disord; 2001 May; 11(4):404-10. PubMed ID: 11369193
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A novel SOD1 mutation in a young amyotrophic lateral sclerosis patient with a very slowly progressive clinical course.
    Georgoulopoulou E; Gellera C; Bragato C; Sola P; Chiari A; Bernabei C; Mandrioli J
    Muscle Nerve; 2010 Oct; 42(4):596-7. PubMed ID: 20740631
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Widespread CNS pathology in amyotrophic lateral sclerosis homozygous for the D90A SOD1 mutation.
    Forsberg KM; Graffmo KS; Stenvall E; Tabikh N; Marklund SL; Brännström T; Andersen PM
    Acta Neuropathol; 2023 Jan; 145(1):13-28. PubMed ID: 36385230
    [TBL] [Abstract][Full Text] [Related]  

  • 13. An Italian dominant FALS Leu144Phe SOD1 mutation: genotype-phenotype correlation.
    Ferrera L; Caponnetto C; Marini V; Rizzi D; Bordo D; Penco S; Amoroso A; Origone P; Garrè C
    Amyotroph Lateral Scler Other Motor Neuron Disord; 2003 Sep; 4(3):167-70. PubMed ID: 13129804
    [TBL] [Abstract][Full Text] [Related]  

  • 14. An Italian kindred with FALS due to c.149T>C mutation in the SOD1 gene: case report of an affected family member.
    Trojsi F; Piccirillo G; Femiano C; Damiano R; Rosaria Monsurrò M
    Acta Myol; 2013 May; 32(1):23-6. PubMed ID: 23853506
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Case report: Flail leg syndrome in familial amyotrophic lateral sclerosis with L144S
    Zapalska E; Wrzesień D; Stępień A
    Front Neurol; 2023; 14():1138668. PubMed ID: 37034065
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Putative founder effect in the Polish, Iranian and United States populations for the L144S
    Kuźma-Kozakiewicz M; Andersen PM; Elahi E; Alavi A; Sapp PC; Morita M; Żekanowski C; Berdyński M
    Amyotroph Lateral Scler Frontotemporal Degener; 2021 Feb; 22(1-2):80-85. PubMed ID: 32777948
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Progressive spastic tetraplegia and axial hypotonia (STAHP) due to SOD1 deficiency: is it really a new entity?
    de Souza PVS; Pinto WBVR; Farias IB; Badia BML; Pinto IFN; Costa GC; Marin CM; Dos Santos Jorge AC; Souto EC; Serrano PL; Machado RIL; Chieia MAT; Bertini E; Oliveira ASB
    Orphanet J Rare Dis; 2021 Aug; 16(1):360. PubMed ID: 34380534
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Prevalence of SOD1 mutations in the Italian ALS population.
    Chiò A; Traynor BJ; Lombardo F; Fimognari M; Calvo A; Ghiglione P; Mutani R; Restagno G
    Neurology; 2008 Feb; 70(7):533-7. PubMed ID: 18268245
    [TBL] [Abstract][Full Text] [Related]  

  • 19. TDP-43 is consistently co-localized with ubiquitinated inclusions in sporadic and Guam amyotrophic lateral sclerosis but not in familial amyotrophic lateral sclerosis with and without SOD1 mutations.
    Maekawa S; Leigh PN; King A; Jones E; Steele JC; Bodi I; Shaw CE; Hortobagyi T; Al-Sarraj S
    Neuropathology; 2009 Dec; 29(6):672-83. PubMed ID: 19496940
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A frequent ala 4 to val superoxide dismutase-1 mutation is associated with a rapidly progressive familial amyotrophic lateral sclerosis.
    Rosen DR; Bowling AC; Patterson D; Usdin TB; Sapp P; Mezey E; McKenna-Yasek D; O'Regan J; Rahmani Z; Ferrante RJ
    Hum Mol Genet; 1994 Jun; 3(6):981-7. PubMed ID: 7951249
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.