These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

266 related articles for article (PubMed ID: 30870495)

  • 21. A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 gene.
    Cuscó I; López E; Soler-Botija C; Jesús Barceló M; Baiget M; Tizzano EF
    Hum Mutat; 2003 Aug; 22(2):136-43. PubMed ID: 12872254
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Genotype-phenotype correlation of SMN locus genes in spinal muscular atrophy children from Argentina.
    Medrano S; Monges S; Gravina LP; Alías L; Mozzoni J; Aráoz HV; Bernal S; Moresco A; Chertkoff L; Tizzano E
    Eur J Paediatr Neurol; 2016 Nov; 20(6):910-917. PubMed ID: 27510309
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Disease Burden of Spinal Muscular Atrophy: A Comparative Cohort Study Using Insurance Claims Data in the USA.
    Mouchet J; Roumpanis S; Gaki E; Lipnick S; Oskoui M; Scalco RS; Darras BT
    J Neuromuscul Dis; 2023; 10(1):41-53. PubMed ID: 36314213
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Mechanisms of exercise-induced survival motor neuron expression in the skeletal muscle of spinal muscular atrophy-like mice.
    Ng SY; Mikhail A; Ljubicic V
    J Physiol; 2019 Sep; 597(18):4757-4778. PubMed ID: 31361024
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy.
    Feldkötter M; Schwarzer V; Wirth R; Wienker TF; Wirth B
    Am J Hum Genet; 2002 Feb; 70(2):358-68. PubMed ID: 11791208
    [TBL] [Abstract][Full Text] [Related]  

  • 26. At the "junction" of spinal muscular atrophy pathogenesis: the role of neuromuscular junction dysfunction in SMA disease progression.
    Goulet BB; Kothary R; Parks RJ
    Curr Mol Med; 2013 Aug; 13(7):1160-74. PubMed ID: 23514457
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Moving towards treatments for spinal muscular atrophy: hopes and limits.
    Wirth B; Barkats M; Martinat C; Sendtner M; Gillingwater TH
    Expert Opin Emerg Drugs; 2015 Sep; 20(3):353-6. PubMed ID: 25920617
    [TBL] [Abstract][Full Text] [Related]  

  • 28. New multiplex real-time PCR approach to detect gene mutations for spinal muscular atrophy.
    Liu Z; Zhang P; He X; Liu S; Tang S; Zhang R; Wang X; Tan J; Peng B; Jiang L; Hong S; Zou L
    BMC Neurol; 2016 Aug; 16(1):141. PubMed ID: 27534852
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Established Stem Cell Model of Spinal Muscular Atrophy Is Applicable in the Evaluation of the Efficacy of Thyrotropin-Releasing Hormone Analog.
    Ohuchi K; Funato M; Kato Z; Seki J; Kawase C; Tamai Y; Ono Y; Nagahara Y; Noda Y; Kameyama T; Ando S; Tsuruma K; Shimazawa M; Hara H; Kaneko H
    Stem Cells Transl Med; 2016 Feb; 5(2):152-63. PubMed ID: 26683872
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Longitudinal evaluation of SMN levels as biomarker for spinal muscular atrophy: results of a phase IIb double-blind study of salbutamol.
    Tiziano FD; Lomastro R; Abiusi E; Pasanisi MB; Di Pietro L; Fiori S; Baranello G; Angelini C; Sorarù G; Gaiani A; Mongini T; Vercelli L; Mercuri E; Vasco G; Pane M; Vita G; Vita G; Messina S; Petillo R; Passamano L; Politano L; Campanella A; Mantegazza R; Morandi L
    J Med Genet; 2019 May; 56(5):293-300. PubMed ID: 30593463
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Muscle: an independent contributor to the neuromuscular spinal muscular atrophy disease phenotype.
    Jha NN; Kim JK; Her YR; Monani UR
    JCI Insight; 2023 Sep; 8(18):. PubMed ID: 37737261
    [TBL] [Abstract][Full Text] [Related]  

  • 32. CNS-targeted gene therapy improves survival and motor function in a mouse model of spinal muscular atrophy.
    Passini MA; Bu J; Roskelley EM; Richards AM; Sardi SP; O'Riordan CR; Klinger KW; Shihabuddin LS; Cheng SH
    J Clin Invest; 2010 Apr; 120(4):1253-64. PubMed ID: 20234094
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Trinucleotide insertion in the SMN2 promoter may not be related to the clinical phenotype of SMA.
    Harahap NI; Takeuchi A; Yusoff S; Tominaga K; Okinaga T; Kitai Y; Takarada T; Kubo Y; Saito K; Sa'adah N; Nurputra DK; Nishimura N; Saito T; Nishio H
    Brain Dev; 2015 Aug; 37(7):669-76. PubMed ID: 25459970
    [TBL] [Abstract][Full Text] [Related]  

  • 34. NCALD Antisense Oligonucleotide Therapy in Addition to Nusinersen further Ameliorates Spinal Muscular Atrophy in Mice.
    Torres-Benito L; Schneider S; Rombo R; Ling KK; Grysko V; Upadhyay A; Kononenko NL; Rigo F; Bennett CF; Wirth B
    Am J Hum Genet; 2019 Jul; 105(1):221-230. PubMed ID: 31230718
    [TBL] [Abstract][Full Text] [Related]  

  • 35. SMN deficiency alters Nrxn2 expression and splicing in zebrafish and mouse models of spinal muscular atrophy.
    See K; Yadav P; Giegerich M; Cheong PS; Graf M; Vyas H; Lee SG; Mathavan S; Fischer U; Sendtner M; Winkler C
    Hum Mol Genet; 2014 Apr; 23(7):1754-70. PubMed ID: 24218366
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Decreased Motor Neuron Support by SMA Astrocytes due to Diminished MCP1 Secretion.
    Martin JE; Nguyen TT; Grunseich C; Nofziger JH; Lee PR; Fields D; Fischbeck KH; Foran E
    J Neurosci; 2017 May; 37(21):5309-5318. PubMed ID: 28450545
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy.
    Sun Y; Grimmler M; Schwarzer V; Schoenen F; Fischer U; Wirth B
    Hum Mutat; 2005 Jan; 25(1):64-71. PubMed ID: 15580564
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Time Is Motor Neuron: Therapeutic Window and Its Correlation with Pathogenetic Mechanisms in Spinal Muscular Atrophy.
    Govoni A; Gagliardi D; Comi GP; Corti S
    Mol Neurobiol; 2018 Aug; 55(8):6307-6318. PubMed ID: 29294245
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Notch Signaling Mediates Astrocyte Abnormality in Spinal Muscular Atrophy Model Systems.
    Ohuchi K; Funato M; Yoshino Y; Ando S; Inagaki S; Sato A; Kawase C; Seki J; Saito T; Nishio H; Nakamura S; Shimazawa M; Kaneko H; Hara H
    Sci Rep; 2019 Mar; 9(1):3701. PubMed ID: 30842449
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Therapeutic strategies for spinal muscular atrophy: SMN and beyond.
    Bowerman M; Becker CG; Yáñez-Muñoz RJ; Ning K; Wood MJA; Gillingwater TH; Talbot K;
    Dis Model Mech; 2017 Aug; 10(8):943-954. PubMed ID: 28768735
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 14.