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Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy
Author / Creator:Schartner, Vanessa ; Romero, Norma B. ; Donkervoort, Sandra ; Treves, Susan ; Munot, Pinki ; Pierson, Tyler Mark ; Dabaj, Ivana ; Malfatti, Edoardo ; Zaharieva, Irina T. ; Zorzato, Francesco ; Abath Neto, Osorio ; Brochier, Guy ; Lornage, Xavière ; Eymard, Bruno ; Taratuto, Ana Lía ; Böhm, Johann ; Gonorazky, Hernan ; Ramos-Platt, Leigh ; Feng, Lucy ; Phadke, Rahul ; Bharucha-Goebel, Diana X. ; Sumner, Charlotte Jane ; Bui, Mai Thao ; Lacene, Emmanuelle ; Beuvin, Maud ; Labasse, Clémence ; Dondaine, Nicolas ; Schneider, Raphael ; Thompson, Julie ; Boland, Anne ; Deleuze, Jean-François ; Matthews, Emma ; Pakleza, Aleksandra Nadaj ; Sewry, Caroline A. ; Biancalana, Valérie ; Quijano-Roy, Susana ; Muntoni, Francesco ; Fardeau, Michel ; Bönnemann, Carsten G. ; Laporte, Jocelyn
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Acta neuropathologica, 2017-04, Vol.133 (4), p.517-533
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CACNA1S haploinsufficiency confers resistance to New World arenavirus infection
Author / Creator:Sarute, Nicolás ; Ross, Susan R.
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2020-08, Vol.117 (32), p.19497-19506
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CACNA1S -associated triadopathy presenting with myalgia, muscle weakness, and asymptomatic hyperCKemia
Author / Creator:Luo, Si ; Zhu, Min ; Tan, Dandan ; Qiu, Yusen ; Zhou, Meihong ; Hong, Daojun
Publisher:England: SAGE Publications
Journal title:Therapeutic advances in neurological disorders, 2025-01, Vol.18, p.17562864251317961
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MRTF-A regulates Ca2+ release through CACNA1S
Author / Creator:Liang, Chen ; Xu, Yao ; Peng, Zhen ; Luo, Ying ; Zhang, Tongcun
Publisher:New Delhi: Springer India
Journal title:Journal of biosciences, 2021-06, Vol.46 (2), Article 40
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Novel CACNA1S mutation in hypokalaemic periodic paralysis
Author / Creator:Luís, Telma ; Linhares, Maria Inês ; Silva, Sónia Regina ; Rodrigues, Filipa
Publisher:England: BMJ Publishing Group LTD
Journal title:BMJ case reports, 2022-01, Vol.15 (1), p.e245952
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Core myopathy in two siblings with a biallelic variant in the CACNA1S gene—A case series study
Author / Creator:Khoeini, Tara ; Kariminejad, Ariana ; Nilipour, Yalda ; Ariaei, Armin ; Najmabadi, Hossein ; Arabshahi, Mojtaba ; Faraji Zonooz, Mehrshid ; Haghi Ashtiani, Bahram
Publisher:England: John Wiley & Sons, Inc
Journal title:Clinical case reports, 2024-08, Vol.12 (8), p.e9251-n/a
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A novel CACNA1S gene variant in a child with hypokalemic periodic paralysis: a case report and literature review
Author / Creator:Zhou, Wen ; Zhao, Peilin ; Gao, Jian ; Zhang, Yunjian
Publisher:London: BioMed Central Ltd
Journal title:BMC pediatrics, 2023-10, Vol.23 (1), p.1-500, Article 500
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Mutations associated with hypokalemic periodic paralysis: from hotspot regions to complete analysis of CACNA1S and SCN4A genes
Author / Creator:Brugnoni, Raffaella ; Canioni, Eleonora ; Filosto, Massimiliano ; Pini, Antonella ; Tonin, Paola ; Rossi, Tommaso ; Canavese, Carlotta ; Eoli, Marica ; Siciliano, Gabriele ; Lauria, Giuseppe ; Mantegazza, Renato ; Maggi, Lorenzo
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Neurogenetics, 2022-01, Vol.23 (1), p.19-25
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RYR1 and CACNA1S genetic variants identified with statin-associated muscle symptoms
Author / Creator:Isackson, Paul J ; Wang, Jianxin ; Zia, Mohammad ; Spurgeon, Paul ; Levesque, Adrian ; Bard, Jonathan ; James, Smitha ; Nowak, Norma ; Lee, Tae Keun ; Vladutiu, Georgirene D
Publisher:England: Future Medicine Ltd
Journal title:Pharmacogenomics, 2018-11, Vol.19 (16), p.1235-1249
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Bayesian Modeling to Predict Malignant Hyperthermia Susceptibility and Pathogenicity of RYR1 , CACNA1S and STAC3 Variants
Author / Creator:Sadhasivam, Senthilkumar ; Brandom, Barbara W ; Henker, Richard A ; McAuliffe, John J
Publisher:England: Future Medicine Ltd
Journal title:Pharmacogenomics, 2019-09, Vol.20 (14), p.989-1003
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The role of CACNA1S in predisposition to malignant hyperthermia
Author / Creator:Carpenter, Danielle ; Ringrose, Christopher ; Leo, Vincenzo ; Morris, Andrew ; Robinson, Rachel L ; Halsall, P Jane ; Hopkins, Philip M ; Shaw, Marie-Anne
Publisher:England: BioMed Central Ltd
Journal title:BMC medical genetics, 2009-10, Vol.10 (1), p.104-104
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Congenital Myopathy as a Phenotypic Expression of CACNA1S Gene Mutation: Case Report and Systematic Review of the Literature
Author / Creator:Marinella, Gemma ; Orsini, Alessandro ; Scacciati, Massimo ; Costa, Elisa ; Santangelo, Andrea ; Astrea, Guja ; Frosini, Silvia ; Pasquariello, Rosa ; Rubegni, Anna ; Sgherri, Giada ; Corsi, Martina ; Bonuccelli, Alice ; Battini, Roberta
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2023-06, Vol.14 (7), p.1363
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Atypical Electrophysiological Pattern in Hypokalemic Periodic Paralysis With CACNA1S Mutation: A Case Report
Author / Creator:Haddouali, Kamal ; El Omari, Hajar ; El Otmani, Hicham ; El Moutawakil, Bouchra ; Abdoh Rafai, Mohammed
Publisher:United States: Springer Nature B.V
Journal title:Curēus (Palo Alto, CA), 2025-02, Vol.17 (2), p.e79539
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Morphological Alterations of the Sarcotubular System in Permanent Myopathy of Hereditary Hypokalemic Periodic Paralysis with a Mutation in the CACNA1S Gene
Author / Creator:Nagasaka, Takamura ; Hata, Takanori ; Shindo, Kazumasa ; Adachi, Yoshiki ; Takeuchi, Megumi ; Saito, Kayoko ; Takiyama, Yoshihisa
Publisher:England: Oxford University Press
Journal title:Journal of neuropathology and experimental neurology, 2020-12, Vol.79 (12), p.1276-1292
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CACNA1S expression in mouse retina: Novel isoforms and antibody cross-reactivity with GPR179
Author / Creator:HASAN, NAZARUL ; RAY, THOMAS A. ; GREGG, RONALD G.
Publisher:New York, USA: Cambridge University Press
Journal title:Visual neuroscience, 2016, Vol.33, p.E009-E009, Article E009
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Regulation of L-type Voltage Gated Calcium Channel CACNA1S in Macrophages upon Mycobacterium tuberculosis Infection
Author / Creator:Antony, Cecil ; Mehto, Subhash ; Tiwari, Brijendra K. ; Singh, Yogendra ; Natarajan, Krishnamurthy
Publisher:United States: Public Library of Science
Journal title:PloS one, 2015-04, Vol.10 (4), p.e0124263-e0124263
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Hypokalemic periodic paralysis due to CACNA1S gene mutation
Author / Creator:Alhasan, Khalid A ; Abdallah, Mohammed S ; Kari, Jameela A ; Bashiri, Fahad A
Publisher:Saudi Arabia: Saudi Medical Journal
Journal title:Neurosciences (Riyadh, Saudi Arabia), 2019-07, Vol.24 (3), p.225-230
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A Mutation in CACNA1S Is Associated with Multiple Supernumerary Cusps and Root Maldevelopment
Author / Creator:Kantaputra, Piranit ; Leelaadisorn, Niramol ; Hatsadaloi, Athiwat ; Quarto, Natalina ; Intachai, Worrachet ; Tongsima, Sissades ; Kawasaki, Katsushige ; Ohazama, Atsushi ; Ngamphiw, Chumpol ; Wiriyakijja, Paswach
Publisher:Switzerland: MDPI AG
Journal title:Diagnostics (Basel), 2023-02, Vol.13 (5), p.895
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MRTF-A regulates Ca 2+ release through CACNA1S
Author / Creator:Liang, Chen ; Xu, Yao ; Peng, Zhen ; Luo, Ying ; Zhang, Tongcun
Publisher:India
Journal title:Journal of biosciences, 2021, Vol.46
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The expanding phenotype of hypokalemic periodic paralysis in a Japanese family with p.Val876Glu mutation in CACNA1S
Author / Creator:Kurokawa, Mari ; Torio, Michiko ; Ohkubo, Kazuhiro ; Tocan, Vlad ; Ohyama, Noriko ; Toda, Naoko ; Ishii, Kanako ; Nishiyama, Kei ; Mushimoto, Yuichi ; Sakamoto, Ryuichi ; Nakaza, Maki ; Horie, Riho ; Kubota, Tomoya ; Takahashi, Masanori P. ; Sakai, Yasunari ; Nomura, Masatoshi ; Ohga, Shouichi
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2020-04, Vol.8 (4), p.e1175-n/a
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Showing 1 to 20 of 172 results

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Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy

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CACNA1S haploinsufficiency confers resistance to New World arenavirus infection

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CACNA1S -associated triadopathy presenting with myalgia, muscle weakness, and asymptomatic hyperCKemia

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MRTF-A regulates Ca2+ release through CACNA1S

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Novel CACNA1S mutation in hypokalaemic periodic paralysis

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Core myopathy in two siblings with a biallelic variant in the CACNA1S gene—A case series study

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A novel CACNA1S gene variant in a child with hypokalemic periodic paralysis: a case report and literature review

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Mutations associated with hypokalemic periodic paralysis: from hotspot regions to complete analysis of CACNA1S and SCN4A genes

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RYR1 and CACNA1S genetic variants identified with statin-associated muscle symptoms

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Bayesian Modeling to Predict Malignant Hyperthermia Susceptibility and Pathogenicity of RYR1 , CACNA1S and STAC3 Variants

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The role of CACNA1S in predisposition to malignant hyperthermia

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Congenital Myopathy as a Phenotypic Expression of CACNA1S Gene Mutation: Case Report and Systematic Review of the Literature

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Atypical Electrophysiological Pattern in Hypokalemic Periodic Paralysis With CACNA1S Mutation: A Case Report

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Morphological Alterations of the Sarcotubular System in Permanent Myopathy of Hereditary Hypokalemic Periodic Paralysis with a Mutation in the CACNA1S Gene

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CACNA1S expression in mouse retina: Novel isoforms and antibody cross-reactivity with GPR179

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Regulation of L-type Voltage Gated Calcium Channel CACNA1S in Macrophages upon Mycobacterium tuberculosis Infection

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Hypokalemic periodic paralysis due to CACNA1S gene mutation

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A Mutation in CACNA1S Is Associated with Multiple Supernumerary Cusps and Root Maldevelopment

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MRTF-A regulates Ca 2+ release through CACNA1S

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The expanding phenotype of hypokalemic periodic paralysis in a Japanese family with p.Val876Glu mutation in CACNA1S

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