Mierzewska H - Search Results

1

Vertical nystagmus as a feature of PIGN-related glycosylphosphatidylinositol biosynthesis defects.

Jezela-Stanek A, Mierzewska H, Szczepanik E. Jezela-Stanek A, et al. Among authors: mierzewska h. Clin Neurol Neurosurg. 2020 Sep;196:106033. doi: 10.1016/j.clineuro.2020.106033. Epub 2020 Jun 18. Clin Neurol Neurosurg. 2020. PMID: 32585529 Review.

2

Hypomyelination, hypogonadotropic hypogonadism, hypodontia - First Polish patient.

Bekiesinska-Figatowska M, Mierzewska H, Kuczynska-Zardzewialy A, Szczepanik E, Obersztyn E. Bekiesinska-Figatowska M, et al. Among authors: mierzewska h. Brain Dev. 2010 Aug;32(7):574-8. doi: 10.1016/j.braindev.2009.07.008. Epub 2009 Aug 22. Brain Dev. 2010. PMID: 19700253

3

Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation in the first Polish patient.

Mierzewska H, van der Knaap MS, Scheper GC, Bekiesinska-Figatowska M, Szczepanik E, Jurkiewicz E. Mierzewska H, et al. Brain Dev. 2011 Oct;33(9):713-7. doi: 10.1016/j.braindev.2010.12.005. Epub 2011 Jan 28. Brain Dev. 2011. PMID: 21277128

4

Clinical improvement of the aggressive neurobehavioral phenotype in a patient with a deletion of PITX3 and the absence of L-DOPA in the cerebrospinal fluid.

Derwińska K, Mierzewska H, Goszczańska A, Szczepanik E, Xia Z, Kuśmierska K, Tryfon J, Kutkowska-Kaźmierczak A, Bocian E, Mazurczak T, Obersztyn E, Stankiewicz P. Derwińska K, et al. Among authors: mierzewska h. Am J Med Genet B Neuropsychiatr Genet. 2012 Mar;159B(2):236-42. doi: 10.1002/ajmg.b.32020. Epub 2012 Jan 5. Am J Med Genet B Neuropsychiatr Genet. 2012. PMID: 22223473

5

Nijmegen breakage syndrome with macrocephaly, schizencephaly and large CSF spaces—extended spectrum of the condition.

Szczałuba K, Mierzewska H, Obersztyn E, Tryfon J, Bekiesińska-Figatowska M, Szczepanik E, Chrzanowska K, Bocian E. Szczałuba K, et al. Among authors: mierzewska h. J Appl Genet. 2012 May;53(2):189-91. doi: 10.1007/s13353-012-0084-2. J Appl Genet. 2012. PMID: 22293976 No abstract available.

6

Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders.

Bartnik M, Szczepanik E, Derwińska K, Wiśniowiecka-Kowalnik B, Gambin T, Sykulski M, Ziemkiewicz K, Kędzior M, Gos M, Hoffman-Zacharska D, Mazurczak T, Jeziorek A, Antczak-Marach D, Rudzka-Dybała M, Mazurkiewicz H, Goszczańska-Ciuchta A, Zalewska-Miszkurka Z, Terczyńska I, Sobierajewicz M, Shaw CA, Gambin A, Mierzewska H, Mazurczak T, Obersztyn E, Bocian E, Stankiewicz P. Bartnik M, et al. Among authors: mierzewska h. Am J Med Genet B Neuropsychiatr Genet. 2012 Oct;159B(7):760-71. doi: 10.1002/ajmg.b.32081. Epub 2012 Jul 23. Am J Med Genet B Neuropsychiatr Genet. 2012. PMID: 22825934

7

A homozygote for the c.459+1G>A mutation in the ARSA gene presents with cerebellar ataxia as the only first clinical sign of metachromatic leukodystrophy.

Lugowska A, Mierzewska H, Bekiesińska-Figatowska M, Szczepanik E, Goszczańska-Ciuchta A, Bednarska-Makaruk M. Lugowska A, et al. Among authors: mierzewska h. J Neurol Sci. 2014 Mar 15;338(1-2):214-7. doi: 10.1016/j.jns.2013.12.030. Epub 2013 Dec 31. J Neurol Sci. 2014. PMID: 24411407

8

The spectrum of PLP1 gene mutations in patients with the classical form of the Pelizaeus-Merzbacher disease.

Hoffman-Zacharska D, Mierzewska H, Szczepanik E, Poznański J, Mazurczak T, Jakubiuk-Tomaszuk A, Mądry J, Kierdaszuk A, Bal J. Hoffman-Zacharska D, et al. Among authors: mierzewska h. Med Wieku Rozwoj. 2013 Oct-Dec;17(4):293-300. Med Wieku Rozwoj. 2013. PMID: 24519770

9

Age and Gender-Related Changes in Biogenic Amine Metabolites in Cerebrospinal Fluid in Children.

Kuśmierska K, Szymańska K, Rokicki D, Kotulska K, Jóźwiak S, Sykut-Cegielska J, Mierzewska H, Szczepanik E, Pronicka E, Demkow U. Kuśmierska K, et al. Among authors: mierzewska h. Adv Exp Med Biol. 2016;878:73-82. doi: 10.1007/5584_2015_167. Adv Exp Med Biol. 2016. PMID: 26453071

10

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: mierzewska h. 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

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