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Items: 42

1.

Autoimmune Neurological Disorder with Anti-Ma2/Ta Antibodies in a Pediatric Patient.

Boniel S, Jeziorek A, Woźniak M, Lipińska E, Szczepanik E, Demkow U, Szymańska K.

Isr Med Assoc J. 2018 Oct;20(10):653-655. No abstract available.

2.

Immunotherapy-responsive childhood neurodegeneration with systemic and central nervous system inflammation.

Sa M, Hacohen Y, Alderson L, Chong WKK, Anderson G, Jacques TS, Neubauer D, Szczepanik E, Lim M, Kaliakatsos M.

Eur J Paediatr Neurol. 2018 Sep;22(5):882-888. doi: 10.1016/j.ejpn.2018.04.010. Epub 2018 Apr 27.

PMID:
29759327
3.

Comprehensive genomic analysis of patients with disorders of cerebral cortical development.

Wiszniewski W, Gawlinski P, Gambin T, Bekiesinska-Figatowska M, Obersztyn E, Antczak-Marach D, Akdemir ZHC, Harel T, Karaca E, Jurek M, Sobecka K, Nowakowska B, Kruk M, Terczynska I, Goszczanska-Ciuchta A, Rudzka-Dybala M, Jamroz E, Pyrkosz A, Jakubiuk-Tomaszuk A, Iwanowski P, Gieruszczak-Bialek D, Piotrowicz M, Sasiadek M, Kochanowska I, Gurda B, Steinborn B, Dawidziuk M, Castaneda J, Wlasienko P, Bezniakow N, Jhangiani SN, Hoffman-Zacharska D, Bal J, Szczepanik E, Boerwinkle E, Gibbs RA, Lupski JR.

Eur J Hum Genet. 2018 Aug;26(8):1121-1131. doi: 10.1038/s41431-018-0137-z. Epub 2018 Apr 30.

PMID:
29706646
4.

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.

5.

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.

6.

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
7.

Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy.

Mignot C, von Stülpnagel C, Nava C, Ville D, Sanlaville D, Lesca G, Rastetter A, Gachet B, Marie Y, Korenke GC, Borggraefe I, Hoffmann-Zacharska D, Szczepanik E, Rudzka-Dybała M, Yiş U, Çağlayan H, Isapof A, Marey I, Panagiotakaki E, Korff C, Rossier E, Riess A, Beck-Woedl S, Rauch A, Zweier C, Hoyer J, Reis A, Mironov M, Bobylova M, Mukhin K, Hernandez-Hernandez L, Maher B, Sisodiya S, Kuhn M, Glaeser D, Weckhuysen S, Myers CT, Mefford HC, Hörtnagel K, Biskup S; EuroEPINOMICS-RES MAE working group, Lemke JR, Héron D, Kluger G, Depienne C.

J Med Genet. 2016 Aug;53(8):511-22. doi: 10.1136/jmedgenet-2015-103451. Epub 2016 Mar 17. Erratum in: J Med Genet. 2016 Oct;53(10):720.

PMID:
26989088
8.

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
9.

From focal epilepsy to Dravet syndrome--Heterogeneity of the phenotype due to SCN1A mutations of the p.Arg1596 amino acid residue in the Nav1.1 subunit.

Hoffman-Zacharska D, Szczepanik E, Terczynska I, Goszczanska-Ciuchta A, Zalewska-Miszkurka Z, Tataj R, Bal J.

Neurol Neurochir Pol. 2015;49(4):258-66. doi: 10.1016/j.pjnns.2015.06.006. Epub 2015 Jun 20.

PMID:
26188943
10.

[Patterns of the EEG records in children with West Syndrome].

Rudzka-Dybała M, Szczepanik E, Terczyńska I.

Przegl Lek. 2015;72(11):694-6. Polish.

PMID:
27012133
11.

Glucose transporter type 1 deficiency due to SLC2A1 gene mutations--a rare but treatable cause of metabolic epilepsy and extrapyramidal movement disorder; own experience and literature review.

Szczepanik E, Terczyńska I, Kruk M, Lipiec A, Dudko E, Tryfon J, Jurek M, Hoffman-Zacharska D.

Dev Period Med. 2015 Oct-Dec;19(4):454-63. Review.

12.

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.

13.

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
14.

Genetic epilepsies with febrile seizures plus: clinical spectrum of Polish patients with SCN1A mutation - preliminary report.

Terczyńska I, Szczepanik E, Duszyc K, Górka P, Tataj R, Hoffman-Zacharska D.

Dev Period Med. 2014 Oct-Dec;18(4):426-31.

15.

De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome.

Suls A, Jaehn JA, Kecskés A, Weber Y, Weckhuysen S, Craiu DC, Siekierska A, Djémié T, Afrikanova T, Gormley P, von Spiczak S, Kluger G, Iliescu CM, Talvik T, Talvik I, Meral C, Caglayan HS, Giraldez BG, Serratosa J, Lemke JR, Hoffman-Zacharska D, Szczepanik E, Barisic N, Komarek V, Hjalgrim H, Møller RS, Linnankivi T, Dimova P, Striano P, Zara F, Marini C, Guerrini R, Depienne C, Baulac S, Kuhlenbäumer G, Crawford AD, Lehesjoki AE, de Witte PA, Palotie A, Lerche H, Esguerra CV, De Jonghe P, Helbig I; EuroEPINOMICS RES Consortium.

Am J Hum Genet. 2013 Nov 7;93(5):967-75. doi: 10.1016/j.ajhg.2013.09.017. Epub 2013 Oct 24.

16.

[Regression of cystic lesions on brain MRI in a child with hypoxic-ischemic encephalopathy treated with selective head cooling].

Bekiesińska-Figatowska M, Borszewska-Kornacka MK, Antczak-Marach D, Szczepanik E.

Ginekol Pol. 2013 Feb;84(2):151-6. Polish.

PMID:
23668064
17.

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
18.

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
19.

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
20.

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
21.

Recurrent distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems.

Ramocki MB, Bartnik M, Szafranski P, Kołodziejska KE, Xia Z, Bravo J, Miller GS, Rodriguez DL, Williams CA, Bader PI, Szczepanik E, Mazurczak T, Antczak-Marach D, Coldwell JG, Akman CI, McAlmon K, Cohen MP, McGrath J, Roeder E, Mueller J, Kang SH, Bacino CA, Patel A, Bocian E, Shaw CA, Cheung SW, Mazurczak T, Stankiewicz P.

Am J Hum Genet. 2010 Dec 10;87(6):857-65. doi: 10.1016/j.ajhg.2010.10.019. Epub 2010 Nov 25.

22.

Quality of life in childhood epilepsy with lateralized epileptogenic foci.

Mathiak KA, Luba M, Mathiak K, Karzel K, Wolańczyk T, Szczepanik E, Ostaszewski P.

BMC Neurol. 2010 Aug 17;10:69. doi: 10.1186/1471-2377-10-69.

23.

[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
24.

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
25.

A family with paroxysmal nonkinesigenic dyskinesia: genetic and treatment issues.

Szczałuba K, Jurek M, Szczepanik E, Friedman A, Milewski M, Bal J, Mazurczak T.

Pediatr Neurol. 2009 Aug;41(2):135-8. doi: 10.1016/j.pediatrneurol.2009.02.013.

PMID:
19589464
26.

[Status epilepticus in the course of epilepsy in children and adolescents].

Szczepanik E, Czochańska J.

Neurol Neurochir Pol. 2003 Jan-Feb;37(1):49-58. Polish.

PMID:
12910829
27.

[Idiopathic absence epilepsy].

Szczepanik E, Pakszys M.

Przegl Lek. 2001;58 Suppl 1:32-6. Polish.

PMID:
11355107
28.

[Idiopathic headache in children].

Szczepanik E.

Med Wieku Rozwoj. 2000 Apr-Jun;4(2):185-95. Review. Polish.

PMID:
11013872
29.

[Positive effect of falbamate therapy in a boy with refractory epilepsy].

Szczepanik E, Pakszys M, Rusek G.

Neurol Neurochir Pol. 2000;34 Suppl 1:195-201. Polish.

PMID:
10768159
30.

Intractable epilepsy in children who develop epilepsy in the first decade of life--a prospective study.

Czochańska J, Losiowski Z, Langner-Tyszka B, Bielicka-Cymerman J, Cendrowska M, Schmidt-Sidor B, Szczepanik E, Szymańska K.

Mater Med Pol. 1996 Oct-Dec;28(4):133-7.

PMID:
9308335
31.

[Remote results of the treatment of intracranial hemorrhage in children with congenital hemorrhagic diathesis].

Klukowska A, Gazda H, Szczepanik E.

Pediatr Pol. 1988 May;63(5):312-8. Polish. No abstract available.

PMID:
3217175
32.
33.

Intraoperative cytology of tumors.

Szczepanik E.

Diagn Cytopathol. 1986 Sep;2(3):236-40.

PMID:
2429811
34.
35.

[Rapid cytological staining in gynecology].

Szczepanik E.

Fortschr Med. 1978 Apr 20;96(15):804-6. German.

PMID:
76601
36.

[Intraoperative rapid cytological assessment of mammary tumors (author's transl)].

Szczepanik E, Hamann W.

MMW Munch Med Wochenschr. 1975 Nov 21;117(47):1877-80. German.

PMID:
54874
37.

[Clinical manifestations of low-back pain in miners from the Zofiówka coal mine in Jastrzebia Górne].

Musiol A, Szczepanik E, Wolny HS, Woźniakowskiej W, Engel M, Jastrzab D, Ibrahima OH.

Pol Tyg Lek. 1974 Dec 23;29(51):2211-3. Polish. No abstract available.

PMID:
4280568
38.

[Experiences with diagnostic laparoscopy in gynecology].

Szczepanik E.

Fortschr Med. 1973 Dec 6;91(34):1354-5. German. No abstract available.

PMID:
4271805
39.

[Proceedings: Simple method of prenatal sex determination].

Szczepanik E.

Arch Gynakol. 1973 Sep 28;214(1):332-3. German. No abstract available.

PMID:
4801481
40.

[Cytological and mammographic preventive check-ups. Results at a small hospital].

Szczepanik E.

Fortschr Med. 1973 Jan 25;91(3):117-8. German. No abstract available.

PMID:
4722502
41.

[Cytologic examination of breast tumors in a small hospital].

Szczepanik E.

Fortschr Med. 1973 Jan 18;91(2):71. German. No abstract available.

PMID:
4573223
42.

[Complications of pregnancy by a thrombosis of the superior mesenteric artery].

SZCZEPANIK E.

Zentralbl Gynakol. 1959 Jul 18;81:1145-8. German. No abstract available.

PMID:
13836317

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