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Items: 1 to 20 of 4385

1.
Identifying Biomarkers of Spinal Muscular Atrophy for Further Development
Jacqueline Glascock, Basil T. Darras, Thomas O. Crawford, Charlotte J. Sumner, Stephen J. Kolb, Christine DiDonato, Bakri Elsheikh, Kelly Howell, Wildon Farwell, Marta Valente, Marco Petrillo, Jessica Tingey, Jill Jarecki
J Neuromuscul Dis. 2023; 10(5): 937–954. Prepublished online 2023 Jul 12. Published online 2023 Sep 8. doi: 10.3233/JND-230054
PMCID:
PMC10578234
ArticlePDF–361K
2.
Biomarkers in 5q-associated spinal muscular atrophy—a narrative review
H. S. Lapp, M. Freigang, T. Hagenacker, M. Weiler, C. D. Wurster, René Günther
J Neurol. 2023; 270(9): 4157–4178. Published online 2023 Jun 8. doi: 10.1007/s00415-023-11787-y
PMCID:
PMC10421827
ArticlePDF–975K
3.
Mitochondrial Dysfunction in Spinal Muscular Atrophy
Eleonora Zilio, Valentina Piano, Brunhilde Wirth
Int J Mol Sci. 2022 Sep; 23(18): 10878. Published online 2022 Sep 17. doi: 10.3390/ijms231810878
PMCID:
PMC9503857
ArticlePDF–9.6M
4.
Update on Biomarkers in Spinal Muscular Atrophy
Megan G Pino, Kelly A Rich, Stephen J Kolb
Biomark Insights. 2021; 16: 11772719211035643. Published online 2021 Aug 14. doi: 10.1177/11772719211035643
PMCID:
PMC8371741
ArticlePDF–669K
5.
Revisiting the role of mitochondria in spinal muscular atrophy
Rachel James, Helena Chaytow, Leire M. Ledahawsky, Thomas H. Gillingwater
Cell Mol Life Sci. 2021; 78(10): 4785–4804. Published online 2021 Apr 5. doi: 10.1007/s00018-021-03819-5
PMCID:
PMC8195803
ArticlePDF–1.2M
6.
Emerging Therapies for Charcot-Marie-Tooth Inherited Neuropathies
Marina Stavrou, Irene Sargiannidou, Elena Georgiou, Alexia Kagiava, Kleopas A. Kleopa
Int J Mol Sci. 2021 Jun; 22(11): 6048. Published online 2021 Jun 3. doi: 10.3390/ijms22116048
PMCID:
PMC8199910
ArticlePDF–1.1M
7.
Molecular Factors Involved in Spinal Muscular Atrophy Pathways as Possible Disease-modifying Candidates
Marianna A. Maretina, Galina Y. Zheleznyakova, Kristina M. Lanko, Anna A. Egorova, Vladislav S. Baranov, Anton V. Kiselev
Curr Genomics. 2018 Aug; 19(5): 339–355. Published online 2018 Aug. doi: 10.2174/1389202919666180101154916
PMCID:
PMC6030859
ArticlePDF–559K
8.
UBA1/GARS-dependent pathways drive sensory-motor connectivity defects in spinal muscular atrophy
Hannah K Shorrock, Dinja van der Hoorn, Penelope J Boyd, Maica Llavero Hurtado, Douglas J Lamont, Brunhilde Wirth, James N Sleigh, Giampietro Schiavo, Thomas M Wishart, Ewout J N Groen, Thomas H Gillingwater
Brain. 2018 Oct; 141(10): 2878–2894. Published online 2018 Sep 25. doi: 10.1093/brain/awy237
PMCID:
PMC6158753
ArticlePDF–2.2M
9.
Inherited Paediatric Motor Neuron Disorders: Beyond Spinal Muscular Atrophy
Hooi Ling Teoh, Kate Carey, Hugo Sampaio, David Mowat, Tony Roscioli, Michelle Farrar
Neural Plast. 2017; 2017: 6509493. Published online 2017 May 28. doi: 10.1155/2017/6509493
PMCID:
PMC5467325
ArticlePDF–2.7M
10.
The MORC2 p.S87L mutation reduces proliferation of pluripotent stem cells derived from a patient with the spinal muscular atrophy-like phenotype by inhibiting proliferation-related signaling pathways
Sen Zeng, Honglan Yang, Binghao Wang, Yongzhi Xie, Ke Xu, Lei Liu, Wanqian Cao, Xionghao Liu, Beisha Tang, Mujun Liu, Ruxu Zhang
Neural Regen Res. 2024 Jan; 19(1): 205–211. Published online 2023 May 31. doi: 10.4103/1673-5374.375347
PMCID:
PMC10479865
ArticlePDF–3.6M
11.
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort
Andre Megarbane, Sami Bizzari, Asha Deepthi, Sandra Sabbagh, Hicham Mansour, Eliane Chouery, Ghassan Hmaimess, Rosette Jabbour, Cybel Mehawej, Saada Alame, Abeer Hani, Dana Hasbini, Ismat Ghanem, Salam Koussa, Mahmoud Taleb Al-Ali, Marc Obeid, Diana Bou Talea, Gerard Lefranc, Nicolas Lévy, France Leturcq, Stephany El Hayek, Valérie Delague, J. Andoni Urtizberea
J Neuromuscul Dis. 2022; 9(1): 193–210. Prepublished online 2021 Sep 24. Published online 2022 Jan 4. doi: 10.3233/JND-210652
PMCID:
PMC8842757
ArticlePDF–779K
12.
Treating pediatric neuromuscular disorders: The future is now
James J. Dowling, Hernan D. Gonorazky, Ronald D. Cohn, Craig Campbell
Am J Med Genet A. 2018 Apr; 176(4): 804–841. Published online 2017 Sep 10. doi: 10.1002/ajmg.a.38418
PMCID:
PMC5900978
ArticlePDF–2.2M
13.
A TRPV4 mutation caused Charcot-Marie-Tooth disease type 2C with scapuloperoneal muscular atrophy overlap syndrome and scapuloperoneal spinal muscular atrophy in one family: a case report and literature review
Haofeng Chen, Chong Sun, Yongsheng Zheng, Junxiong Yin, Mingshi Gao, Chongbo Zhao, Jie Lin
BMC Neurol. 2023; 23: 250. Published online 2023 Jun 30. doi: 10.1186/s12883-023-03260-0
PMCID:
PMC10311707
ArticlePDF–2.9M
14.
Linkage relations of locus for X-borne type of Charcot-Marie-Tooth muscular atrophy and that for Xg blood groups.
C J de Weerdt
J Med Genet. 1976 Oct; 13(5): 399. doi: 10.1136/jmg.13.5.399
PMCID:
PMC1013447
SummaryPage BrowsePDF–65K
15.
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
Yuan Tian, Jinfang Xing, Ying Shi, Enwu Yuan
Front Neurosci. 2023; 17: 1252075. Published online 2023 Nov 17. doi: 10.3389/fnins.2023.1252075
PMCID:
PMC10690808
ArticlePDF–1.5M
16.
A novel lamin A/C gene mutation causing spinal muscular atrophy phenotype with cardiac involvement: report of one case
Naotoshi Iwahara, Shin Hisahara, Takashi Hayashi, Jun Kawamata, Shun Shimohama
BMC Neurol. 2015; 15: 13. Published online 2015 Feb 20. doi: 10.1186/s12883-015-0269-5
PMCID:
PMC4342086
ArticlePDF–661K
17.
A review of the genetic spectrum of hereditary spastic paraplegias, inherited neuropathies and spinal muscular atrophies in Africans
Amokelani C. Mahungu, Nomakhosazana Monnakgotla, Melissa Nel, Jeannine M. Heckmann
Orphanet J Rare Dis. 2022; 17: 133. Published online 2022 Mar 24. doi: 10.1186/s13023-022-02280-2
PMCID:
PMC8944057
ArticlePDF–1.2M
18.
Nusinersen Treatment in Adults With Spinal Muscular Atrophy
Tina Duong, Connie Wolford, Michael P. McDermott, Chelsea E. Macpherson, Amy Pasternak, Allan M. Glanzman, William B. Martens, Elizabeth Kichula, Basil T. Darras, Darryl C. De Vivo, Zarazuela Zolkipli-Cunningham, Richard S. Finkel, Michael Zeineh, Max Wintermark, Jacinda Sampson, Katharine A. Hagerman, Sally Dunaway Young, John W. Day
Neurol Clin Pract. 2021 Jun; 11(3): e317–e327. doi: 10.1212/CPJ.0000000000001033
PMCID:
PMC8382360
ArticlePDF–675K
19.
Jean-Martin Charcot: the polymath
Carlos Henrique Ferreira Camargo, Léo Coutinho, Ylmar Correa Neto, Eliasz Engelhardt, Pericles Maranhão Filho, Olivier Walusinski, Hélio Afonso Ghizoni Teive
Arq Neuropsiquiatr. 2023 Dec; 81(12): 1098–1111. Published online 2023 Oct 29. doi: 10.1055/s-0043-1775984
PMCID:
PMC10756797
ArticlePDF–2.3M
20.
In Vitro Modeling as a Tool for Testing Therapeutics for Spinal Muscular Atrophy and IGHMBP2-Related Disorders
Julieth Andrea Sierra-Delgado, Shrestha Sinha-Ray, Abuzar Kaleem, Meysam Ganjibakhsh, Mohini Parvate, Samantha Powers, Xiaojin Zhang, Shibi Likhite, Kathrin Meyer
Biology (Basel) 2023 Jun; 12(6): 867. Published online 2023 Jun 16. doi: 10.3390/biology12060867
PMCID:
PMC10295315
ArticlePDF–4.3M

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