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Year Number of Results
2010 2
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2013 2
2014 4
2015 5
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2017 3
2018 1
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2020 1
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2023 6
2024 1

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34 results

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Page 1
Spinal Muscular Atrophy: The Past, Present, and Future of Diagnosis and Treatment.
Nishio H, Niba ETE, Saito T, Okamoto K, Takeshima Y, Awano H. Nishio H, et al. Int J Mol Sci. 2023 Jul 26;24(15):11939. doi: 10.3390/ijms241511939. Int J Mol Sci. 2023. PMID: 37569314 Free PMC article. Review.
The first cases of SMA were reported by Werdnig in 1891. Although the phenotypic variation of SMA led to controversy regarding the clinical entity of the disease, the genetic homogeneity of SMA was proved in 1990. ...
The first cases of SMA were reported by Werdnig in 1891. Although the phenotypic variation of SMA led to controversy regarding …
Motor neuron disease. SMN2 splicing modifiers improve motor function and longevity in mice with spinal muscular atrophy.
Naryshkin NA, Weetall M, Dakka A, Narasimhan J, Zhao X, Feng Z, Ling KK, Karp GM, Qi H, Woll MG, Chen G, Zhang N, Gabbeta V, Vazirani P, Bhattacharyya A, Furia B, Risher N, Sheedy J, Kong R, Ma J, Turpoff A, Lee CS, Zhang X, Moon YC, Trifillis P, Welch EM, Colacino JM, Babiak J, Almstead NG, Peltz SW, Eng LA, Chen KS, Mull JL, Lynes MS, Rubin LL, Fontoura P, Santarelli L, Haehnke D, McCarthy KD, Schmucki R, Ebeling M, Sivaramakrishnan M, Ko CP, Paushkin SV, Ratni H, Gerlach I, Ghosh A, Metzger F. Naryshkin NA, et al. Science. 2014 Aug 8;345(6197):688-93. doi: 10.1126/science.1250127. Science. 2014. PMID: 25104390
Administration of these compounds to delta7 mice, a model of severe SMA, led to an increase in SMN protein levels, improvement of motor function, and protection of the neuromuscular circuit. ...
Administration of these compounds to delta7 mice, a model of severe SMA, led to an increase in SMN protein levels, improvement …
Expanding the phenotype of DYNC1H1-associated diseases with a rare variant resulting in spinal muscular atrophy with lower extremity predominance (SMA-LED) and upper motor neuron signs.
Lee J, Millington P, Dayasiri K, Ramdas S, Jayawant S, Anand G. Lee J, et al. Turk J Pediatr. 2023;65(3):531-535. doi: 10.24953/turkjped.2022.513. Turk J Pediatr. 2023. PMID: 37395972 Free article.
BACKGROUND: Spinal muscular atrophy with lower extremity predominance (SMA-LED) is an autosomal dominant disorder. Since SMA-LED affects lower motor neurons, the disease is characterized by weakness and …
BACKGROUND: Spinal muscular atrophy with lower extremity predominance (SMA-LED …
Spinal muscular atrophy with predominant lower extremity (SMA-LED) with no signs other than pure motor symptoms at the intersection of multiple overlap syndrome.
Tekin HG, Edem P, Özyılmaz B. Tekin HG, et al. Brain Dev. 2022 Apr;44(4):294-298. doi: 10.1016/j.braindev.2021.12.001. Epub 2021 Dec 30. Brain Dev. 2022. PMID: 34974950
BACKGROUND: Mutations in the cytoplasmic dynein 1 heavy chain gene (DYNC1H1) have been associated with spinal muscular atrophy with predominant lower extremity involvement (SMA-LED), Charcot-Marie-Tooth 2O (CMT2O) disease, cortical migration anomalies, and autosomal …
BACKGROUND: Mutations in the cytoplasmic dynein 1 heavy chain gene (DYNC1H1) have been associated with spinal muscular atrophy with predomin …
A human dynein heavy chain mutation impacts cortical progenitor cells causing developmental defects, reduced brain size and altered brain architecture.
Romero DM, Zaidi D, Cifuentes-Diaz C, Maillard C, Grannec G, Selloum M, Birling MC, Bahi-Buisson N, Francis F. Romero DM, et al. Neurobiol Dis. 2023 May;180:106085. doi: 10.1016/j.nbd.2023.106085. Epub 2023 Mar 16. Neurobiol Dis. 2023. PMID: 36933672 Free article.
Dynein heavy chain (DYNC1H1) mutations can either lead to severe cerebral cortical malformations, or alternatively may be associated with the development of spinal muscular atrophy with lower extremity predominance (SMA-L …
Dynein heavy chain (DYNC1H1) mutations can either lead to severe cerebral cortical malformations, or alternatively may be associated with th …
Review: Cytoplasmic dynein motors in photoreceptors.
Dahl TM, Baehr W. Dahl TM, et al. Mol Vis. 2021 Sep 1;27:506-517. eCollection 2021. Mol Vis. 2021. PMID: 34526758 Free PMC article. Review.
Missense mutations of human DYNC1H1 are associated with malformations of cortical development (MCD) or spinal muscular atrophy with lower extremity predominance (SMA-LED). ...
Missense mutations of human DYNC1H1 are associated with malformations of cortical development (MCD) or spinal muscular atro …
Microscopic and Biochemical Hallmarks of BICD2-Associated Muscle Pathology toward the Evaluation of Novel Variants.
Unger A, Roos A, Gangfuß A, Hentschel A, Gläser D, Krause K, Doering K, Schara-Schmidt U, Hoffjan S, Vorgerd M, Güttsches AK. Unger A, et al. Int J Mol Sci. 2023 Apr 6;24(7):6808. doi: 10.3390/ijms24076808. Int J Mol Sci. 2023. PMID: 37047781 Free PMC article.
BICD2 variants have been linked to neurodegenerative disorders like spinal muscular atrophy with lower extremity predominance (SMALED2) or hereditary spastic paraplegia (HSP). ...
BICD2 variants have been linked to neurodegenerative disorders like spinal muscular atrophy with lower …
34 results