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Journal Abstract Search

125 related items for PubMed ID: 36140801

  • 21. Pain behavior in SCN9A (Nav1.7) and SCN10A (Nav1.8) mutant rodent models.
    Xue Y, Chidiac C, Herault Y, Gaveriaux-Ruff C.
    Neurosci Lett; 2021 May 14; 753():135844. PubMed ID: 33775738
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  • 23. Meta-Analyses Support Previous and Novel Autism Candidate Genes: Outcomes of an Unexplored Brazilian Cohort.
    da Silva Montenegro EM, Costa CS, Campos G, Scliar M, de Almeida TF, Zachi EC, Silva IMW, Chan AJS, Zarrei M, Lourenço NCV, Yamamoto GL, Scherer S, Passos-Bueno MR.
    Autism Res; 2020 Feb 14; 13(2):199-206. PubMed ID: 31696658
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  • 25. Variant Intronic Enhancer Controls SCN10A-short Expression and Heart Conduction.
    Man JCK, Bosada FM, Scholman KT, Offerhaus JA, Walsh R, van Duijvenboden K, van Eif VWW, Bezzina CR, Verkerk AO, Boukens BJ, Barnett P, Christoffels VM.
    Circulation; 2021 Jul 20; 144(3):229-242. PubMed ID: 33910361
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  • 26. Common and rare variants in SCN10A modulate the risk of atrial fibrillation.
    Jabbari J, Olesen MS, Yuan L, Nielsen JB, Liang B, Macri V, Christophersen IE, Nielsen N, Sajadieh A, Ellinor PT, Grunnet M, Haunsø S, Holst AG, Svendsen JH, Jespersen T.
    Circ Cardiovasc Genet; 2015 Feb 20; 8(1):64-73. PubMed ID: 25691686
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  • 27. PLXNA2 and LRRC40 as candidate genes in autism spectrum disorder.
    Pijuan J, Ortigoza-Escobar JD, Ortiz J, Alcalá A, Calvo MJ, Cubells M, Hernando-Davalillo C, Palau F, Hoenicka J.
    Autism Res; 2021 Jun 20; 14(6):1088-1100. PubMed ID: 33749153
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  • 28. Identification of ultra-rare disruptive variants in voltage-gated calcium channel-encoding genes in Japanese samples of schizophrenia and autism spectrum disorder.
    Wang C, Horigane SI, Wakamori M, Ueda S, Kawabata T, Fujii H, Kushima I, Kimura H, Ishizuka K, Nakamura Y, Iwayama Y, Ikeda M, Iwata N, Okada T, Aleksic B, Mori D, Yoshida T, Bito H, Yoshikawa T, Takemoto-Kimura S, Ozaki N.
    Transl Psychiatry; 2022 Feb 26; 12(1):84. PubMed ID: 35220405
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  • 29. Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy.
    Kambouris M, Thevenon J, Soldatos A, Cox A, Stephen J, Ben-Omran T, Al-Sarraj Y, Boulos H, Bone W, Mullikin JC, NISC Comparative Sequencing Program, Masurel-Paulet A, St-Onge J, Dufford Y, Chantegret C, Thauvin-Robinet C, Al-Alami J, Faivre L, Riviere JB, Gahl WA, Bassuk AG, Malicdan MC, El-Shanti H.
    Ann Clin Transl Neurol; 2017 Jan 26; 4(1):26-35. PubMed ID: 28078312
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  • 30. A cellular model of Brugada syndrome with SCN10A variants using human-induced pluripotent stem cell-derived cardiomyocytes.
    El-Battrawy I, Albers S, Cyganek L, Zhao Z, Lan H, Li X, Xu Q, Kleinsorge M, Huang M, Liao Z, Zhong R, Rudic B, Müller J, Dinkel H, Lang S, Diecke S, Zimmermann WH, Utikal J, Wieland T, Borggrefe M, Zhou X, Akin I.
    Europace; 2019 Sep 01; 21(9):1410-1421. PubMed ID: 31106349
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  • 31. Biallelic inherited SCN8A variants, a rare cause of SCN8A-related developmental and epileptic encephalopathy.
    Wengert ER, Tronhjem CE, Wagnon JL, Johannesen KM, Petit H, Krey I, Saga AU, Panchal PS, Strohm SM, Lange J, Kamphausen SB, Rubboli G, Lemke JR, Gardella E, Patel MK, Meisler MH, Møller RS.
    Epilepsia; 2019 Nov 01; 60(11):2277-2285. PubMed ID: 31625145
    [Abstract] [Full Text] [Related]

  • 32. Yield of peripheral sodium channels gene screening in pure small fibre neuropathy.
    Eijkenboom I, Sopacua M, Hoeijmakers JGJ, de Greef BTA, Lindsey P, Almomani R, Marchi M, Vanoevelen J, Smeets HJM, Waxman SG, Lauria G, Merkies ISJ, Faber CG, Gerrits MM.
    J Neurol Neurosurg Psychiatry; 2019 Mar 01; 90(3):342-352. PubMed ID: 30554136
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  • 33. Absence of a Primary Role for SCN10A Mutations in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy.
    Te Riele AS, James CA, Murray B, Tichnell C, Amat-Alarcon N, Burks K, Tandri H, Calkins H, Polydefkis M, Judge DP.
    J Cardiovasc Transl Res; 2016 Feb 01; 9(1):87-9. PubMed ID: 26733327
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  • 35. De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
    Sanders SJ, Murtha MT, Gupta AR, Murdoch JD, Raubeson MJ, Willsey AJ, Ercan-Sencicek AG, DiLullo NM, Parikshak NN, Stein JL, Walker MF, Ober GT, Teran NA, Song Y, El-Fishawy P, Murtha RC, Choi M, Overton JD, Bjornson RD, Carriero NJ, Meyer KA, Bilguvar K, Mane SM, Sestan N, Lifton RP, Günel M, Roeder K, Geschwind DH, Devlin B, State MW.
    Nature; 2012 Apr 04; 485(7397):237-41. PubMed ID: 22495306
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  • 37. Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder.
    Munnich A, Demily C, Frugère L, Duwime C, Malan V, Barcia G, Vidal C, Throo E, Besmond C, Hubert L, Roland-Manuel G, Malen JP, Ferreri M, Hanein S, Thalabard JC, Boddaert N, Assouline M.
    Mol Autism; 2019 Apr 04; 10():33. PubMed ID: 31406558
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