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Items: 1 to 50 of 54

1.

Natural History of Vanishing White Matter.

Hamilton EMC, van der Lei HDW, Vermeulen G, Gerver JAM, Lourenço CM, Naidu S, Mierzewska H, Gemke RJBJ, de Vet HCW, Uitdehaag BMJ, Lissenberg-Witte BI; VWM Research Group, van der Knaap MS.

Ann Neurol. 2018 Aug;84(2):274-288. doi: 10.1002/ana.25287. Epub 2018 Sep 6.

2.

Developmental epileptic encephalopathy with hypomyelination and brain atrophy associated with PTPN23 variants affecting the assembly of UsnRNPs.

Smigiel R, Landsberg G, Schilling M, Rydzanicz M, Pollak A, Walczak A, Stodolak A, Stawinski P, Mierzewska H, Sasiadek MM, Gruss OJ, Ploski R.

Eur J Hum Genet. 2018 Oct;26(10):1502-1511. doi: 10.1038/s41431-018-0179-2. Epub 2018 Jun 13.

PMID:
29899372
3.

Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy.

Mendes MI, Gutierrez Salazar M, Guerrero K, Thiffault I, Salomons GS, Gauquelin L, Tran LT, Forget D, Gauthier MS, Waisfisz Q, Smith DEC, Simons C, van der Knaap MS, Marquardt I, Lemes A, Mierzewska H, Weschke B, Koehler W, Coulombe B, Wolf NI, Bernard G.

Am J Hum Genet. 2018 Apr 5;102(4):676-684. doi: 10.1016/j.ajhg.2018.02.011. Epub 2018 Mar 22.

4.

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.

J Hum Genet. 2018 Apr;63(4):473-485. doi: 10.1038/s10038-017-0401-z. Epub 2018 Feb 6.

PMID:
29410512
5.

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.

Folia Neuropathol. 2016;54(4):405-409. doi: 10.5114/fn.2016.64819.

6.

Warburg micro syndrome type 1 associated with peripheral neuropathy and cardiomyopathy.

Kabzińska D, Mierzewska H, Senderek J, Kochański A.

Folia Neuropathol. 2016;54(3):273-281.

7.

Alexander disease - astrogliopathy considered as leukodystrophy - experience of an institution.

Mierzewska H, Mierzewska-Schmidt M, Salomons GS, Dudzińska M, Szczepanik E.

Dev Period Med. 2016 Apr-Jun;20(2):110-7.

8.

Pelizaeus-Merzbacher disease in patients with molecularly confirmed diagnosis.

Mierzewska H, Jamroz E, Mazurczak T, Hoffman-Zacharska D, Szczepanik E.

Folia Neuropathol. 2016;54(1):59-65.

9.

Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation - a novel phenotype of the mitochondrial disease.

Mierzewska H, Rydzanicz M, Biegański T, Kosinska J, Mierzewska-Schmidt M, Ługowska A, Pollak A, Stawiński P, Walczak A, Kędra A, Obersztyn E, Szczepanik E, Płoski R.

Clin Genet. 2017 Jan;91(1):30-37. doi: 10.1111/cge.12792. Epub 2016 Jun 2.

PMID:
27102849
10.

Diffuse hypomyelination is not obligate for POLR3-related disorders.

La Piana R, Cayami FK, Tran LT, Guerrero K, van Spaendonk R, Õunap K, Pajusalu S, Haack T, Wassmer E, Timmann D, Mierzewska H, Poll-Thé BT, Patel C, Cox H, Atik T, Onay H, Ozkınay F, Vanderver A, van der Knaap MS, Wolf NI, Bernard G.

Neurology. 2016 Apr 26;86(17):1622-6. doi: 10.1212/WNL.0000000000002612. Epub 2016 Mar 30.

11.

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.

Eur J Paediatr Neurol. 2016 May;20(3):462-73. doi: 10.1016/j.ejpn.2016.01.007. Epub 2016 Feb 4.

PMID:
26879448
12.

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.

Adv Exp Med Biol. 2016;878:73-82.

PMID:
26453071
13.

Stenogyria - not only in Chiari II malformation.

Bekiesinska-Figatowska M, Duczkowska A, Brągoszewska H, Duczkowski M, Mierzewska H.

J Neurol Sci. 2014 Dec 15;347(1-2):337-40. doi: 10.1016/j.jns.2014.09.022. Epub 2014 Sep 28.

PMID:
25282544
14.

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.

Med Wieku Rozwoj. 2013 Oct-Dec;17(4):293-300.

15.

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.

J Neurol Sci. 2014 Mar 15;338(1-2):214-7. doi: 10.1016/j.jns.2013.12.030. Epub 2013 Dec 31.

PMID:
24411407
16.

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.

Eur J Paediatr Neurol. 2014 Mar;18(2):183-92. doi: 10.1016/j.ejpn.2013.11.006. Epub 2013 Dec 15.

PMID:
24388491
17.

Basal ganglia lesions in children and adults.

Bekiesinska-Figatowska M, Mierzewska H, Jurkiewicz E.

Eur J Radiol. 2013 May;82(5):837-49. doi: 10.1016/j.ejrad.2012.12.006. Epub 2013 Jan 10. Review.

PMID:
23313708
18.

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.

Am J Med Genet B Neuropsychiatr Genet. 2012 Oct;159B(7):760-71. doi: 10.1002/ajmg.b.32081. Epub 2012 Jul 23.

PMID:
22825934
19.

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.

J Appl Genet. 2012 May;53(2):189-91. doi: 10.1007/s13353-012-0084-2. No abstract available.

PMID:
22293976
20.

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.

Am J Med Genet B Neuropsychiatr Genet. 2012 Mar;159B(2):236-42. doi: 10.1002/ajmg.b.32020. Epub 2012 Jan 5.

PMID:
22223473
21.

Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females.

Bartnik M, Derwińska K, Gos M, Obersztyn E, Kołodziejska KE, Erez A, Szpecht-Potocka A, Fang P, Terczyńska I, Mierzewska H, Lohr NJ, Bellus GA, Reimschisel T, Bocian E, Mazurczak T, Cheung SW, Stankiewicz P.

Genet Med. 2011 May;13(5):447-52. doi: 10.1097/GIM.0b013e31820605f5.

PMID:
21293276
22.

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.

Brain Dev. 2011 Oct;33(9):713-7. doi: 10.1016/j.braindev.2010.12.005. Epub 2011 Jan 28.

PMID:
21277128
23.
24.

[Clinical usefulness of serial EEG examinations in the diagnostic of hereditary epileptic encephalopathies case of severe epileptic encephalopathy type 2].

Terczyńska I, Mierzewska H, Szczepanik E, Antczak-Marach D.

Przegl Lek. 2010;67(9):757-61. Polish.

PMID:
21387820
25.

Kufs' disease: diagnostic difficulties in the examination of extracerebral biopsies.

Lewandowska E, Lipczyńska-Łojkowska W, Modzelewska J, Wierzba-Bobrowicz T, Mierzewska H, Szpak GM, Passenik E, Jachińska K.

Folia Neuropathol. 2009;47(3):259-67.

26.

Hypomyelination, hypogonadotropic hypogonadism, hypodontia - First Polish patient.

Bekiesinska-Figatowska M, Mierzewska H, Kuczynska-Zardzewialy A, Szczepanik E, Obersztyn E.

Brain Dev. 2010 Aug;32(7):574-8. doi: 10.1016/j.braindev.2009.07.008. Epub 2009 Aug 22.

PMID:
19700253
27.

Molecular and clinical consequences of novel mutations in the arylsulfatase A gene.

Ługowska A, Wlodarski P, Płoski R, Mierzewska H, Dudzińska M, Matheisel A, Swietochowska H, Tylki-Szymańska A.

Clin Genet. 2009 Jan;75(1):57-64. doi: 10.1111/j.1399-0004.2008.01108.x. Epub 2008 Nov 17.

PMID:
19021637
28.

Brain and cerebellar hemidysplasia in a case with ipsilateral body dysplasia and suspicion of CHILD syndrome.

Schmidt-Sidor B, Obersztyn E, Szymańska K, Wychowski J, Mierzewska H, Wierzba-Bobrowicz T, Stepień T.

Folia Neuropathol. 2008;46(3):232-7.

29.

Clinical, biochemical, neuropathological and molecular findings of the first Polish case of adenylosuccinase deficiency.

Mierzewska H, Schmidt-Sidor B, Lewandowska E, Grajkowska W, Kuśmierska K, Jurkiewicz E, Stepień T, Rafałowska J.

Folia Neuropathol. 2008;46(1):81-91.

30.

Clinical course of homozygous familial hypercholesterolemia during childhood: report on 4 unrelated patients with homozygous or compound heterozygous mutations in the LDLR gene.

Kubalska J, Chmara M, Limon J, Wierzbicka A, Prokurat S, Szaplyko J, Kowalik A, Mierzewska H, Defesche JC, Pronicka E.

J Appl Genet. 2008;49(1):109-13. doi: 10.1007/BF03195256.

PMID:
18263977
31.

[Juvenile form of Alexander's disease - a case confirmed by detection of mutation in GFAP gene].

Kmieć T, Bilska M, Mierzewska H, Jurkiewicz E, Jóźwiak S.

Neurol Neurochir Pol. 2007 May-Jun;41(3):267-71. Polish.

PMID:
17629821
32.

Adenylosuccinate lyase deficiency: the first identified polish patient.

Jurkiewicz E, Mierzewska H, Kuśmierska K.

Brain Dev. 2007 Oct;29(9):600-2. Epub 2007 May 7.

PMID:
17485188
33.

Transferrin hypoglycosylation in hereditary fructose intolerance: using the clues and avoiding the pitfalls.

Adamowicz M, Płoski R, Rokicki D, Morava E, Gizewska M, Mierzewska H, Pollak A, Lefeber DJ, Wevers RA, Pronicka E.

J Inherit Metab Dis. 2007 Jun;30(3):407. Epub 2007 Apr 24.

PMID:
17457694
34.

Ultrastructural picture of blood vessels in muscle and skin biopsy in CADASIL.

Lewandowska E, Leszczyńska A, Wierzba-Bobrowicz T, Skowrońska M, Mierzewska H, Pasennik E, Członkowska A.

Folia Neuropathol. 2006;44(4):265-73.

35.

Leukoencephalopathy with vanishing white matter due to homozygous EIF2B2 gene mutation. First Polish cases.

Mierzewska H, van der Knaap MS, Scheper GC, Jurkiewicz E, Schmidt-Sidor B, Szymańska K.

Folia Neuropathol. 2006;44(2):144-8.

36.

Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency.

Böhm M, Pronicka E, Karczmarewicz E, Pronicki M, Piekutowska-Abramczuk D, Sykut-Cegielska J, Mierzewska H, Hansikova H, Vesela K, Tesarova M, Houstkova H, Houstek J, Zeman J.

Pediatr Res. 2006 Jan;59(1):21-6. Epub 2005 Dec 2.

PMID:
16326995
37.

Infantile mitochondrial leucodystrophy - a case report.

Scmidt-Sidor B, Szymańska K, Lewandowska E, Mierzewska H, Wierzba-Bobrowicz T, Pasennik E, Stepień T.

Folia Neuropathol. 2005;43(3):186-90.

38.

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.

Pediatr Radiol. 2005 Oct;35(10):1027-30. Epub 2005 May 24.

PMID:
15912409
39.

Neurodegenerative disease in infants with multiple congenital malformations--report of two cases.

Schmidt-Sidor B, Mierzewska H, Turzyniecka M, Kowalewska-Kantecka B, Wierzba-Bobrowicz T, Lechowicz W.

Folia Neuropathol. 2004;42(4):221-6.

PMID:
15679040
40.

Rapid-onset dystonia-parkinsonism: a fourth family consistent with linkage to chromosome 19q13.

Zaremba J, Mierzewska H, Lysiak Z, Kramer P, Ozelius LJ, Brashear A.

Mov Disord. 2004 Dec;19(12):1506-10.

PMID:
15390049
41.

Diversity of clinical symptoms in A3243G mitochondrial DNA mutation (MELAS syndrome mutation).

Pronicki M, Sykut-Cegielska J, Mierzewska H, Tońska K, Karczmarewicz E, Iwanicka K, Bartnik E, Pronicka E.

Med Sci Monit. 2002 Nov;8(11):CR767-73.

PMID:
12444382
42.

[MELAS--mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome--two cases confirmed by biochemical and molecular investigations. Differential diagnosis of stroke causes].

Mierzewska H, Mroczek K, Pronicki M, Pronicka E, Karczmarewicz E, Bartnik E, Zdzienicka E, Seniów J, Schmidt-Sidor B, Taraszewska A, Palasik W.

Neurol Neurochir Pol. 2002 May-Jun;36(3):457-70. Polish.

PMID:
12185802
43.

[Clinical and genetic study of juvenile form of Huntington's disease].

Zdzienicka E, Rakowicz M, Mierzewska H, Hoffman-Zacharska D, Jakubowska T, Poniatowska R, Sułek A, Waliniowska E, Zalewska U, Kulczycki J, Zaremba J.

Neurol Neurochir Pol. 2002 Mar-Apr;36(2):245-58. Polish.

PMID:
12046502
44.

[Clinical picture of spinocerebellar ataxia type I (SCA1)].

Milewska D, Piłkowska E, Jakubowska T, Rakowicz M, Niewiadomska M, Niedzielska K, Walinowska E, Wochnik-Dyjas D, Rejnowski G, Zdzienicka E, Mierzewska H, Hoffman-Zacharska D, Zaremba J.

Neurol Neurochir Pol. 2001 Nov-Dec;35(6):993-1011. Polish.

PMID:
11987714
45.

Ultrastructural study of mother and daughter muscle changes with mitochondrial encephalomyopathy.

Lewandowska E, Schmidt-Sidor B, Mierzewska H, Pasennik E, Kohutnicka M.

Folia Neuropathol. 2001;39(4):271-6.

PMID:
11928899
46.

[Hyperactivity and behavioral disorders in Sanfilippo A (mucopolysaccharidosis type IIIA)--case report and review of the literature].

Wolańczyk T, Banaszkiewicz A, Mierzewska H, Czartoryska B, Zdziennicka E.

Psychiatr Pol. 2000 Sep-Oct;34(5):831-7. Review. Polish.

PMID:
11202024
47.

[Juvenile form of Huntington's disease--diagnostic problems].

Hoffman-Zacharska D, Zdzienicka E, Mierzewska H, Habib N, Kulczycki J, Zaremba J.

Med Wieku Rozwoj. 1999 Jan-Mar;3(1):123-32. Polish.

PMID:
10910644
48.

[Adrenomyeloneuropathy: a form of X-linked adrenoleukodystrophy. Report of a family].

Rzeski M, Kuran W, Mierzewska H, Vreken P, Wanders RJ, Zaremba J.

Neurol Neurochir Pol. 1999 Sep-Oct;33(5):1173-85. Polish.

PMID:
10672567
49.

[Mitochondrial diseases. Part II -- diagnosis and detailed review].

Mierzewska H.

Neurol Neurochir Pol. 1996 Mar-Apr;30(2):279-92. Review. Polish.

PMID:
8756254
50.

[Mitochondrial diseases. Part I -- general review].

Mierzewska H.

Neurol Neurochir Pol. 1996 Mar-Apr;30(2):265-78. Review. Polish.

PMID:
8756253

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