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PUBMED FOR HANDHELDS

Journal Abstract Search


174 related items for PubMed ID: 36413117

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  • 2. Clinically relevant mouse models of severe spinal muscular atrophy with respiratory distress type 1.
    Holbrook SE, Hicks AN, Martin PB, Hines TJ, Castro HP, Cox GA.
    Hum Mol Genet; 2024 Oct 07; 33(20):1800-1814. PubMed ID: 39128026
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  • 3. Charcot Marie Tooth disease type 2S with late onset diaphragmatic weakness: An atypical case.
    Kulshrestha R, Forrester N, Antoniadi T, Willis T, Sethuraman SK, Samuels M.
    Neuromuscul Disord; 2018 Dec 07; 28(12):1016-1021. PubMed ID: 30409445
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  • 4. A novel IGHMBP2 variant and clinical diversity in Vietnamese SMARD1 and CMT2S patients.
    Tran VK, Cao MH, Nguyen TTH, Le PT, Tran HA, Vu DC, Nguyen HT, Nguyen MTP, Bui TH, Nguyen TB, Ta TV, Tran TH.
    Front Pediatr; 2024 Dec 07; 12():1165492. PubMed ID: 38415210
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  • 5. The Ighmbp2D564N mouse model is the first SMARD1 model to demonstrate respiratory defects.
    Smith CE, Lorson MA, Ricardez Hernandez SM, Al Rawi Z, Mao J, Marquez J, Villalón E, Keilholz AN, Smith CL, Garro-Kacher MO, Morcos T, Davis DJ, Bryda EC, Nichols NL, Lorson CL.
    Hum Mol Genet; 2022 Apr 22; 31(8):1293-1307. PubMed ID: 34726235
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  • 6. Exploring the relationship between IGHMBP2 gene mutations and spinal muscular atrophy with respiratory distress type 1 and Charcot-Marie-Tooth disease type 2S: a systematic review.
    Tian Y, Xing J, Shi Y, Yuan E.
    Front Neurosci; 2023 Apr 22; 17():1252075. PubMed ID: 38046662
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  • 9. The molecular mechanisms that underlie IGHMBP2-related diseases.
    Rzepnikowska W, Kaminska J, Kochański A.
    Neuropathol Appl Neurobiol; 2024 Aug 22; 50(4):e13005. PubMed ID: 39119929
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  • 14. Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease.
    Sevilla T, Lupo V, Martínez-Rubio D, Sancho P, Sivera R, Chumillas MJ, García-Romero M, Pascual-Pascual SI, Muelas N, Dopazo J, Vílchez JJ, Palau F, Espinós C.
    Brain; 2016 Jan 22; 139(Pt 1):62-72. PubMed ID: 26497905
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