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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2019 | 6 |
2020 | 1 |
2023 | 1 |
2024 | 1 |
Search Results
7 results
Results by year
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Page 1
RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum.
Ann Clin Transl Neurol. 2020 Jan;7(1):83-93. doi: 10.1002/acn3.50960. Epub 2019 Dec 8.
Ann Clin Transl Neurol. 2020.
PMID: 31814314
Free PMC article.
De novo variants in KCNA3 cause developmental and epileptic encephalopathy.
Soldovieri MV, Ambrosino P, Mosca I, Servettini I, Pietrunti F, Belperio G; KCNA3 study group; Syrbe S, Taglialatela M, Lemke JR.
Soldovieri MV, et al.
Ann Neurol. 2024 Feb;95(2):365-376. doi: 10.1002/ana.26826. Epub 2023 Dec 28.
Ann Neurol. 2024.
PMID: 37964487
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Autism and developmental disability caused by KCNQ3 gain-of-function variants.
Sands TT, Miceli F, Lesca G, Beck AE, Sadleir LG, Arrington DK, Schönewolf-Greulich B, Moutton S, Lauritano A, Nappi P, Soldovieri MV, Scheffer IE, Mefford HC, Stong N, Heinzen EL, Goldstein DB, Perez AG, Kossoff EH, Stocco A, Sullivan JA, Shashi V, Gerard B, Francannet C, Bisgaard AM, Tümer Z, Willems M, Rivier F, Vitobello A, Thakkar K, Rajan DS, Barkovich AJ, Weckhuysen S, Cooper EC, Taglialatela M, Cilio MR.
Sands TT, et al.
Ann Neurol. 2019 Aug;86(2):181-192. doi: 10.1002/ana.25522. Epub 2019 Jun 26.
Ann Neurol. 2019.
PMID: 31177578
Free article.
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From congenital microcephaly to adult onset cerebellar ataxia: Distinct and overlapping phenotypes in patients with PNKP gene mutations.
Gatti M, Magri S, Nanetti L, Sarto E, Di Bella D, Salsano E, Pantaleoni C, Mariotti C, Taroni F.
Gatti M, et al.
Am J Med Genet A. 2019 Nov;179(11):2277-2283. doi: 10.1002/ajmg.a.61339. Epub 2019 Aug 22.
Am J Med Genet A. 2019.
PMID: 31436889
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A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs).
Pareyson D, Stojkovic T, Reilly MM, Leonard-Louis S, Laurà M, Blake J, Parman Y, Battaloglu E, Tazir M, Bellatache M, Bonello-Palot N, Lévy N, Sacconi S, Guimarães-Costa R, Attarian S, Latour P, Solé G, Megarbane A, Horvath R, Ricci G, Choi BO, Schenone A, Gemelli C, Geroldi A, Sabatelli M, Luigetti M, Santoro L, Manganelli F, Quattrone A, Valentino P, Murakami T, Scherer SS, Dankwa L, Shy ME, Bacon CJ, Herrmann DN, Zambon A, Tramacere I, Pisciotta C, Magri S, Previtali SC, Bolino A.
Pareyson D, et al.
Ann Neurol. 2019 Jul;86(1):55-67. doi: 10.1002/ana.25500. Epub 2019 May 27.
Ann Neurol. 2019.
PMID: 31070812
Free PMC article.
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Activation of Kv7 Potassium Channels Inhibits Intracellular Ca2+ Increases Triggered By TRPV1-Mediated Pain-Inducing Stimuli in F11 Immortalized Sensory Neurons.
Ambrosino P, Soldovieri MV, Di Zazzo E, Paventi G, Iannotti FA, Mosca I, Miceli F, Franco C, Canzoniero LMT, Taglialatela M.
Ambrosino P, et al.
Int J Mol Sci. 2019 Sep 4;20(18):4322. doi: 10.3390/ijms20184322.
Int J Mol Sci. 2019.
PMID: 31487785
Free PMC article.
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Epileptic Encephalopathy In A Patient With A Novel Variant In The Kv7.2 S2 Transmembrane Segment: Clinical, Genetic, and Functional Features.
Soldovieri MV, Ambrosino P, Mosca I, Miceli F, Franco C, Canzoniero LMT, Kline-Fath B, Cooper EC, Venkatesan C, Taglialatela M.
Soldovieri MV, et al.
Int J Mol Sci. 2019 Jul 10;20(14):3382. doi: 10.3390/ijms20143382.
Int J Mol Sci. 2019.
PMID: 31295832
Free PMC article.
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