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Did you mean sga and nervous system diseases (546 results)?
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
Megarbane A, Bizzari S, Deepthi A, Sabbagh S, Mansour H, Chouery E, Hmaimess G, Jabbour R, Mehawej C, Alame S, Hani A, Hasbini D, Ghanem I, Koussa S, Al-Ali MT, Obeid M, Talea DB, Lefranc G, Lévy N, Leturcq F, El Hayek S, Delague V, Urtizberea JA. Megarbane A, et al. J Neuromuscul Dis. 2022;9(1):193-210. doi: 10.3233/JND-210652. J Neuromuscul Dis. 2022. PMID: 34602496 Free PMC article.
In this cohort, 81.4% of patients were diagnosed with motor neuron diseases and muscular dystrophies, with almost half of these described with spinal muscular atrophy (SMA) (40.3% of patients). ...
In this cohort, 81.4% of patients were diagnosed with motor neuron diseases and muscular dystrophies, with almost half of these descr …
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.
Töpf A, Johnson K, Bates A, Phillips L, Chao KR, England EM, Laricchia KM, Mullen T, Valkanas E, Xu L, Bertoli M, Blain A, Casasús AB, Duff J, Mroczek M, Specht S, Lek M, Ensini M, MacArthur DG; MYO-SEQ consortium; Straub V. Töpf A, et al. Genet Med. 2020 Sep;22(9):1478-1488. doi: 10.1038/s41436-020-0840-3. Epub 2020 Jun 11. Genet Med. 2020. PMID: 32528171 Free PMC article.
PURPOSE: Several hundred genetic muscle diseases have been described, all of which are rare. Their clinical and genetic heterogeneity means that a genetic diagnosis is challenging. ...We detected 401 novel variants, 116 of which were recurrent. Variants in CAPN3, DYSF, ANO …
PURPOSE: Several hundred genetic muscle diseases have been described, all of which are rare. Their clinical and genetic heterogeneity …
Assessment of Systemic Delivery of rAAVrh74.MHCK7.micro-dystrophin in Children With Duchenne Muscular Dystrophy: A Nonrandomized Controlled Trial.
Mendell JR, Sahenk Z, Lehman K, Nease C, Lowes LP, Miller NF, Iammarino MA, Alfano LN, Nicholl A, Al-Zaidy S, Lewis S, Church K, Shell R, Cripe LH, Potter RA, Griffin DA, Pozsgai E, Dugar A, Hogan M, Rodino-Klapac LR. Mendell JR, et al. JAMA Neurol. 2020 Sep 1;77(9):1122-1131. doi: 10.1001/jamaneurol.2020.1484. JAMA Neurol. 2020. PMID: 32539076 Free PMC article. Clinical Trial.
Sarcoglycanopathies: an update.
Vainzof M, Souza LS, Gurgel-Giannetti J, Zatz M. Vainzof M, et al. Neuromuscul Disord. 2021 Oct;31(10):1021-1027. doi: 10.1016/j.nmd.2021.07.014. Epub 2021 Jul 28. Neuromuscul Disord. 2021. PMID: 34404573 Review.
Four subtypes are known: LGMDR3, LGMDR4, LGMDR5 and LGMDR6, caused, respectively, by mutations in the SGCA, SGCB,SGCG and SGCD genes. Their four coded proteins, alpha-SG, ss-SG, lambda-SG and delta-SG are part of the dystrophin-glycoprotein complex (DGC) present in muscle …
Four subtypes are known: LGMDR3, LGMDR4, LGMDR5 and LGMDR6, caused, respectively, by mutations in the SGCA, SGCB,SGCG and SGCD genes. …
Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients.
Ten Dam L, Frankhuizen WS, Linssen WHJP, Straathof CS, Niks EH, Faber K, Fock A, Kuks JB, Brusse E, de Coo R, Voermans N, Verrips A, Hoogendijk JE, van der Pol L, Westra D, de Visser M, van der Kooi AJ, Ginjaar I. Ten Dam L, et al. Clin Genet. 2019 Aug;96(2):126-133. doi: 10.1111/cge.13544. Epub 2019 May 6. Clin Genet. 2019. PMID: 30919934
Patients were identified at the tertiary referral centre for DNA diagnosis in the Netherlands and included if they carried two mutations in CAPN3, DYSF, SGCG, SGCA, SGCB, SGCD, TRIM32, FKRP or ANO5 gene. DNA was screened by direct sequencing and multiplex ligand-dependent …
Patients were identified at the tertiary referral centre for DNA diagnosis in the Netherlands and included if they carried two mutations in …
Preclinical Systemic Delivery of Adeno-Associated α-Sarcoglycan Gene Transfer for Limb-Girdle Muscular Dystrophy.
Griffin DA, Pozsgai ER, Heller KN, Potter RA, Peterson EL, Rodino-Klapac LR. Griffin DA, et al. Hum Gene Ther. 2021 Apr;32(7-8):390-404. doi: 10.1089/hum.2019.199. Epub 2021 Feb 18. Hum Gene Ther. 2021. PMID: 33349138 Free PMC article. Clinical Trial.
The sgca-null (sgca(-/-)) mouse recapitulates the clinical phenotype of patients with LGMD2D/R3, including dystrophic features such as muscle necrosis and fibrosis, elevated serum creatine kinase (CK), and reduction in the generation of absolute muscle force and loc …
The sgca-null (sgca(-/-)) mouse recapitulates the clinical phenotype of patients with LGMD2D/R3, including dystrophic features …
Clinical and genetic spectrum of sarcoglycanopathies in a large cohort of Chinese patients.
Xie Z, Hou Y, Yu M, Liu Y, Fan Y, Zhang W, Wang Z, Xiong H, Yuan Y. Xie Z, et al. Orphanet J Rare Dis. 2019 Feb 14;14(1):43. doi: 10.1186/s13023-019-1021-9. Orphanet J Rare Dis. 2019. PMID: 30764848 Free PMC article.
There was a statistically significant positive correlation between reduction of alpha-sarcoglycan level and disease severity in LGMD2D. Thirty-five mutations were identified in SGCA, SGCB, SGCG, and PMP22, 16 of which were novel. Exon 3 of SGCA was a hotspot region …
There was a statistically significant positive correlation between reduction of alpha-sarcoglycan level and disease severity in LGMD2D. Thir …
Base editing repairs an SGCA mutation in human primary muscle stem cells.
Escobar H, Krause A, Keiper S, Kieshauer J, Müthel S, de Paredes MG, Metzler E, Kühn R, Heyd F, Spuler S. Escobar H, et al. JCI Insight. 2021 May 24;6(10):e145994. doi: 10.1172/jci.insight.145994. JCI Insight. 2021. PMID: 33848270 Free PMC article.
However, precise gene editing in human muscle stem cells for autologous cell replacement therapies of untreatable genetic muscle diseases has not yet been reported. Loss-of-function mutations in SGCA, encoding alpha-sarcoglycan, cause limb-girdle muscular dystrophy …
However, precise gene editing in human muscle stem cells for autologous cell replacement therapies of untreatable genetic muscle diseases …
LGMD2E is the most common type of sarcoglycanopathies in the Iranian population.
Alavi A, Esmaeili S, Nilipour Y, Nafissi S, Tonekaboni SH, Zamani G, Ashrafi MR, Kahrizi K, Najmabadi H, Jazayeri F. Alavi A, et al. J Neurogenet. 2017 Sep;31(3):161-169. doi: 10.1080/01677063.2017.1346093. Epub 2017 Jul 7. J Neurogenet. 2017. PMID: 28687063
Sarcoglycanopathies (SGCs) which are caused by mutations in SGCA, SGCB, SGCG or SGCD genes are a subgroup of autosomal-recessive limb-girdle-muscular-dystrophies (LGMD2). ...In total, 15 candidate disease causing mutations were observed in the SGCA, SGCB, SGCG and S …
Sarcoglycanopathies (SGCs) which are caused by mutations in SGCA, SGCB, SGCG or SGCD genes are a subgroup of autosomal-recessive limb …
Expression of genes (CAPN3, SGCA, SGCB, and TTN) involved in progressive muscular dystrophies during early human development.
Fougerousse F, Durand M, Suel L, Pourquié O, Delezoide AL, Romero NB, Abitbol M, Beckmann JS. Fougerousse F, et al. Genomics. 1998 Mar 1;48(2):145-56. doi: 10.1006/geno.1997.5160. Genomics. 1998. PMID: 9521867
Despite the presence of overlapping clinical signs, the spatiotemporal expression profiles of the corresponding genes differed widely. Transcripts of alpha-sarcoglycan (SGCA) were visible as soon as myotomes were formed, and constitute, together with titin transcripts, pre …
Despite the presence of overlapping clinical signs, the spatiotemporal expression profiles of the corresponding genes differed widely. Trans …
94 results