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Page 1
PIGN encephalopathy: Characterizing the epileptology.
Bayat A, de Valles-Ibáñez G, Pendziwiat M, Knaus A, Alt K, Biamino E, Bley A, Calvert S, Carney P, Caro-Llopis A, Ceulemans B, Cousin J, Davis S, des Portes V, Edery P, England E, Ferreira C, Freeman J, Gener B, Gorce M, Heron D, Hildebrand MS, Jezela-Stanek A, Jouk PS, Keren B, Kloth K, Kluger G, Kuhn M, Lemke JR, Li H, Martinez F, Maxton C, Mefford HC, Merla G, Mierzewska H, Muir A, Monfort S, Nicolai J, Norman J, O'Grady G, Oleksy B, Orellana C, Orec LE, Peinhardt C, Pronicka E, Rosello M, Santos-Simarro F, Schwaibold EMC, Stegmann APA, Stumpel CT, Szczepanik E, Terczyńska I, Thevenon J, Tzschach A, Van Bogaert P, Vittorini R, Walsh S, Weckhuysen S, Weissman B, Wolfe L, Reymond A, De Nittis P, Poduri A, Olson H, Striano P, Lesca G, Scheffer IE, Møller RS, Sadleir LG. Bayat A, et al. Among authors: pronicka e. Epilepsia. 2022 Apr;63(4):974-991. doi: 10.1111/epi.17173. Epub 2022 Feb 18. Epilepsia. 2022. PMID: 35179230
Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis--The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes.
Jezela-Stanek A, Ciara E, Piekutowska-Abramczuk D, Trubicka J, Jurkiewicz E, Rokicki D, Mierzewska H, Spychalska J, Uhrynowska M, Szwarc-Bronikowska M, Buda P, Said AR, Jamroz E, Rydzanicz M, Płoski R, Krajewska-Walasek M, Pronicka E. Jezela-Stanek A, et al. Among authors: pronicka e. Eur J Paediatr Neurol. 2016 May;20(3):462-73. doi: 10.1016/j.ejpn.2016.01.007. Epub 2016 Feb 4. Eur J Paediatr Neurol. 2016. PMID: 26879448
Bilateral striatal necrosis caused by ADAR mutations in two siblings with dystonia and freckles-like skin changes that should be differentiated from Leigh syndrome.
Piekutowska-Abramczuk D, Mierzewska H, Bekiesińska-Figatowska M, Ciara E, Trubicka J, Pronicki M, Rokicki D, Rydzanicz M, Płoski R, Pronicka E. Piekutowska-Abramczuk D, et al. Among authors: pronicka e. Folia Neuropathol. 2016;54(4):405-409. doi: 10.5114/fn.2016.64819. Folia Neuropathol. 2016. PMID: 28139822 Free article.
Clinical and molecular characteristics of newly reported mitochondrial disease entity caused by biallelic PARS2 mutations.
Ciara E, Rokicki D, Lazniewski M, Mierzewska H, Jurkiewicz E, Bekiesińska-Figatowska M, Piekutowska-Abramczuk D, Iwanicka-Pronicka K, Szymańska E, Stawiński P, Kosińska J, Pollak A, Pronicki M, Plewczyński D, Płoski R, Pronicka E. Ciara E, et al. Among authors: pronicka e. J Hum Genet. 2018 Apr;63(4):473-485. doi: 10.1038/s10038-017-0401-z. Epub 2018 Feb 6. J Hum Genet. 2018. PMID: 29410512
MRI of a family with leukoencephalypathy with vanishing white matter.
Jurkiewicz E, Mierzewska H, Bekiesińska-Figatowska M, Pakua-Kościesza I, Kmieć T, Scheper G, van der Knaap MS, Pronicka E. Jurkiewicz E, et al. Among authors: pronicka e. Pediatr Radiol. 2005 Oct;35(10):1027-30. doi: 10.1007/s00247-005-1498-3. Epub 2005 May 24. Pediatr Radiol. 2005. PMID: 15912409
Severe phenotypes of SMARD1 associated with novel mutations of the IGHMBP2 gene and nuclear degeneration of muscle and Schwann cells.
Jędrzejowska M, Madej-Pilarczyk A, Fidziańska A, Mierzewska H, Pronicka E, Obersztyn E, Gos M, Pronicki M, Kmieć T, Migdał M, Mierzewska-Schmidt M, Walczak-Wojtkowska I, Konopka E, Hausmanowa-Petrusewicz I. Jędrzejowska M, et al. Among authors: pronicka e. Eur J Paediatr Neurol. 2014 Mar;18(2):183-92. doi: 10.1016/j.ejpn.2013.11.006. Epub 2013 Dec 15. Eur J Paediatr Neurol. 2014. PMID: 24388491
Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.
Maas RR, Iwanicka-Pronicka K, Kalkan Ucar S, Alhaddad B, AlSayed M, Al-Owain MA, Al-Zaidan HI, Balasubramaniam S, Barić I, Bubshait DK, Burlina A, Christodoulou J, Chung WK, Colombo R, Darin N, Freisinger P, Garcia Silva MT, Grunewald S, Haack TB, van Hasselt PM, Hikmat O, Hörster F, Isohanni P, Ramzan K, Kovacs-Nagy R, Krumina Z, Martin-Hernandez E, Mayr JA, McClean P, De Meirleir L, Naess K, Ngu LH, Pajdowska M, Rahman S, Riordan G, Riley L, Roeben B, Rutsch F, Santer R, Schiff M, Seders M, Sequeira S, Sperl W, Staufner C, Synofzik M, Taylor RW, Trubicka J, Tsiakas K, Unal O, Wassmer E, Wedatilake Y, Wolff T, Prokisch H, Morava E, Pronicka E, Wevers RA, de Brouwer AP, Wortmann SB. Maas RR, et al. Among authors: pronicka e. Ann Neurol. 2017 Dec;82(6):1004-1015. doi: 10.1002/ana.25110. Ann Neurol. 2017. PMID: 29205472 Free PMC article.
170 results