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Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder.
Am J Hum Genet. 2022 Feb 3;109(2):361-372. doi: 10.1016/j.ajhg.2021.12.011. Epub 2022 Jan 19.
Am J Hum Genet. 2022.
PMID: 35051358
Free PMC article.
UBTF Mutation Causes Complex Phenotype of Neurodegeneration and Severe Epilepsy in Childhood.
Sedláčková L, Laššuthová P, Štěrbová K, Haberlová J, Vyhnálková E, Neupauerová J, Staněk D, Šedivá M, Kršek P, Seeman P.
Sedláčková L, et al. Among authors: vyhnalkova e.
Neuropediatrics. 2019 Feb;50(1):57-60. doi: 10.1055/s-0038-1676288. Epub 2018 Dec 5.
Neuropediatrics. 2019.
PMID: 30517966
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IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.
Mignot C, McMahon AC, Bar C, Campeau PM, Davidson C, Buratti J, Nava C, Jacquemont ML, Tallot M, Milh M, Edery P, Marzin P, Barcia G, Barnerias C, Besmond C, Bienvenu T, Bruel AL, Brunga L, Ceulemans B, Coubes C, Cristancho AG, Cunningham F, Dehouck MB, Donner EJ, Duban-Bedu B, Dubourg C, Gardella E, Gauthier J, Geneviève D, Gobin-Limballe S, Goldberg EM, Hagebeuk E, Hamdan FF, Hančárová M, Hubert L, Ioos C, Ichikawa S, Janssens S, Journel H, Kaminska A, Keren B, Koopmans M, Lacoste C, Laššuthová P, Lederer D, Lehalle D, Marjanovic D, Métreau J, Michaud JL, Miller K, Minassian BA, Morales J, Moutard ML, Munnich A, Ortiz-Gonzalez XR, Pinard JM, Prchalová D, Putoux A, Quelin C, Rosen AR, Roume J, Rossignol E, Simon MEH, Smol T, Shur N, Shelihan I, Štěrbová K, Vyhnálková E, Vilain C, Soblet J, Smits G, Yang SP, van der Smagt JJ, van Hasselt PM, van Kempen M, Weckhuysen S, Helbig I, Villard L, Héron D, Koeleman B, Møller RS, Lesca G, Helbig KL, Nabbout R, Verbeek NE, Depienne C.
Mignot C, et al. Among authors: vyhnalkova e.
Genet Med. 2019 Apr;21(4):837-849. doi: 10.1038/s41436-018-0268-1. Epub 2018 Sep 12.
Genet Med. 2019.
PMID: 30206421
Free PMC article.
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Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.
Mignot C, McMahon AC, Bar C, Campeau PM, Davidson C, Buratti J, Nava C, Jacquemont ML, Tallot M, Milh M, Edery P, Marzin P, Barcia G, Barnerias C, Besmond C, Bienvenu T, Bruel AL, Brunga L, Ceulemans B, Coubes C, Cristancho AG, Cunningham F, Dehouck MB, Donner EJ, Duban-Bedu B, Dubourg C, Gardella E, Gauthier J, Geneviève D, Gobin-Limballe S, Goldberg EM, Hagebeuk E, Hamdan FF, Hančárová M, Hubert L, Ioos C, Ichikawa S, Janssens S, Journel H, Kaminska A, Keren B, Koopmans M, Lacoste C, Laššuthová P, Lederer D, Lehalle D, Marjanovic D, Métreau J, Michaud JL, Miller K, Minassian BA, Morales J, Moutard ML, Munnich A, Ortiz-Gonzalez XR, Pinard JM, Prchalová D, Putoux A, Quelin C, Rosen AR, Roume J, Rossignol E, Simon MEH, Smol T, Shur N, Shelihan I, Štěrbová K, Vyhnálková E, Vilain C, Soblet J, Smits G, Yang SP, van der Smagt JJ, van Hasselt PM, van Kempen M, Weckhuysen S, Helbig I, Villard L, Héron D, Koeleman B, Møller RS, Lesca G, Helbig KL, Nabbout R, Verbeek NE, Depienne C.
Mignot C, et al. Among authors: vyhnalkova e.
Genet Med. 2019 Aug;21(8):1897-1898. doi: 10.1038/s41436-018-0327-7.
Genet Med. 2019.
PMID: 30279470
Free PMC article.
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Genetic findings in Czech patients with limb girdle muscular dystrophy.
Zídková J, Kramářová T, Kopčilová J, Réblová K, Haberlová J, Mazanec R, Voháňka S, Gřegořová A, Langová M, Honzík T, Šoukalová J, Ošlejšková H, Solařová P, Vyhnálková E, Fajkusová L.
Zídková J, et al. Among authors: vyhnalkova e.
Clin Genet. 2023 Nov;104(5):542-553. doi: 10.1111/cge.14407. Epub 2023 Aug 1.
Clin Genet. 2023.
PMID: 37526466
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GDAP1 mutations in Czech families with early-onset CMT.
Baránková L, Vyhnálková E, Züchner S, Mazanec R, Sakmaryová I, Vondrácek P, Merlini L, Bojar M, Nelis E, De Jonghe P, Seeman P.
Baránková L, et al. Among authors: vyhnalkova e.
Neuromuscul Disord. 2007 Jun;17(6):482-9. doi: 10.1016/j.nmd.2007.02.010. Epub 2007 Apr 11.
Neuromuscul Disord. 2007.
PMID: 17433678
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A 71-nucleotide deletion in the periaxin gene in a Romani patient with early-onset slowly progressive demyelinating CMT.
Baránková L, Sisková D, Hühne K, Vyhnálková E, Sakmaryová I, Bojar M, Rautenstrauss B, Seeman P.
Baránková L, et al. Among authors: vyhnalkova e.
Eur J Neurol. 2008 Jun;15(6):548-51. doi: 10.1111/j.1468-1331.2008.02104.x. Epub 2008 Apr 8.
Eur J Neurol. 2008.
PMID: 18410371
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SPG11: clinical and genetic features of seven Czech patients and literature review.
Doleckova K, Roth J, Stellmachova J, Gescheidt T, Sigut V, Houska P, Jech R, Zech M, Vyhnalek M, Vyhnalkova E, Seeman P, Meszarosova AU.
Doleckova K, et al. Among authors: vyhnalkova e.
Neurol Res. 2022 May;44(5):379-389. doi: 10.1080/01616412.2021.1975224. Epub 2022 Mar 7.
Neurol Res. 2022.
PMID: 35254204
Review.
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