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Items: 1 to 50 of 87

1.

Malignant hyperthermia - what do we know in 2019?

Cieniewicz A, Trzebicki J, Mayzner-Zawadzka E, Kostera-Pruszczyk A, Owczuk R.

Anaesthesiol Intensive Ther. 2019;51(3):169-177. doi: 10.5114/ait.2019.87646. No abstract available.

2.

Correction to: Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease.

Wood L, Bassez G, Bleyenheuft C, Campbell C, Cossette L, Jimenez-Moreno AC, Dai Y, Dawkins H, Díaz-Manera J, Dogan C, El Sherif R, Fossati B, Graham C, Hilbert J, Kastreva K, Kimura E, Korngut L, Kostera-Pruszczyk A, Lindberg C, Lindvall B, Luebbe E, Lusakowska A, Mazanec R, Meola G, Orlando L, Takahashi MP, Peric S, Puymirat J, Rakocevic-Stojanovic V, Rodrigues M, Roxburgh R, Schoser B, Segovia S, Shatillo A, Thiele S, Tournev I, van Engelen B, Vohanka S, Lochmüller H.

Orphanet J Rare Dis. 2019 Aug 15;14(1):199. doi: 10.1186/s13023-019-1157-7.

3.

Screening for late-onset Pompe disease in Poland.

Jastrzębska A, Potulska-Chromik A, Łusakowska A, Jastrzębski M, Lipowska M, Kierdaszuk B, Kamińska A, Kostera-Pruszczyk A.

Acta Neurol Scand. 2019 Oct;140(4):239-243. doi: 10.1111/ane.13133. Epub 2019 Jun 18.

PMID:
31125121
4.

Motor Unit Number Index (MUNIX) as a biomarker of motor unit loss in post-polio syndrome versus needle EMG.

Gawel M, Zalewska E, Szmidt-Salkowska E, Lipowska M, Lusakowska A, Kaminska AM, Kostera-Pruszczyk A.

J Electromyogr Kinesiol. 2019 Jun;46:35-40. doi: 10.1016/j.jelekin.2019.03.006. Epub 2019 Mar 9.

PMID:
30878651
5.

High incidence and clinical characteristics of fibromuscular dysplasia in patients with spontaneous cervical artery dissection: The ARCADIA-POL study.

Talarowska P, Dobrowolski P, Klisiewicz A, Kostera-Pruszczyk A, Członkowska A, Kurkowska-Jastrzębska I, Gąsecki D, Warchoł-Celińska E, Światłowski Ł, Florczak E, Januszewicz M, Michałowska I, Józwik-Plebanek K, Szczudlik P, Błażejewska-Hyżorek B, Protasiewicz M, Odrowąż-Pieniążek P, Tekieli Ł, Michel-Rowicka K, Hanus K, Widecka K, Sołtysiak M, Tykarski A, Stryczyński Ł, Szczerbo-Trojanowska M, Hoffman P, Prejbisz A, Januszewicz A.

Vasc Med. 2019 Apr;24(2):112-119. doi: 10.1177/1358863X18811596. Epub 2019 Feb 10.

PMID:
30739593
6.

Treatment outcome in juvenile-onset myasthenia gravis.

Jastrzębska A, Jastrzębski M, Ryniewicz B, Kostera-Pruszczyk A.

Muscle Nerve. 2019 May;59(5):549-554. doi: 10.1002/mus.26445. Epub 2019 Mar 6.

PMID:
30734335
7.

Long-term effect of thymectomy plus prednisone versus prednisone alone in patients with non-thymomatous myasthenia gravis: 2-year extension of the MGTX randomised trial.

Wolfe GI, Kaminski HJ, Aban IB, Minisman G, Kuo HC, Marx A, Ströbel P, Mazia C, Oger J, Cea JG, Heckmann JM, Evoli A, Nix W, Ciafaloni E, Antonini G, Witoonpanich R, King JO, Beydoun SR, Chalk CH, Barboi AC, Amato AA, Shaibani AI, Katirji B, Lecky BRF, Buckley C, Vincent A, Dias-Tosta E, Yoshikawa H, Waddington-Cruz M, Pulley MT, Rivner MH, Kostera-Pruszczyk A, Pascuzzi RM, Jackson CE, Verschuuren JJGM, Massey JM, Kissel JT, Werneck LC, Benatar M, Barohn RJ, Tandan R, Mozaffar T, Silvestri NJ, Conwit R, Sonett JR, Jaretzki A 3rd, Newsom-Davis J, Cutter GR; MGTX Study Group.

Lancet Neurol. 2019 Mar;18(3):259-268. doi: 10.1016/S1474-4422(18)30392-2. Epub 2019 Jan 25.

PMID:
30692052
8.

The frequency of mitochondrial polymerase gamma related disorders in a large Polish population cohort.

Piekutowska-Abramczuk D, Kaliszewska M, Sułek A, Jurkowska N, Ołtarzewski M, Jabłońska E, Trubicka J, Głowacka A, Ciara E, Kowalski P, Langiewicz-Wojciechowska K, Tesarova M, Zeman J, Kierdaszuk B, Kuczyński D, Chmielewski D, Szymańska E, Bakuła A, Łusakowska A, Lipowska M, Brodacki B, Pera J, Dorobek M, Rydzanicz M, Płoski R, Chrzanowska KH, Bartnik E, Placha G, Kamińska A, Kostera-Pruszczyk A, Krajewska-Walasek M, Tońska K, Pronicka E.

Mitochondrion. 2019 Jul;47:179-187. doi: 10.1016/j.mito.2018.11.004. Epub 2018 Nov 10.

PMID:
30423451
9.

Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy.

Danhauser K, Alhaddad B, Makowski C, Piekutowska-Abramczuk D, Syrbe S, Gomez-Ospina N, Manning MA, Kostera-Pruszczyk A, Krahn-Peper C, Berutti R, Kovács-Nagy R, Gusic M, Graf E, Laugwitz L, Röblitz M, Wroblewski A, Hartmann H, Das AM, Bültmann E, Fang F, Xu M, Schatz UA, Karall D, Zellner H, Haberlandt E, Feichtinger RG, Mayr JA, Meitinger T, Prokisch H, Strom TM, Płoski R, Hoffmann GF, Pronicki M, Bonnen PE, Morlot S, Haack TB.

Am J Hum Genet. 2018 Nov 1;103(5):817-825. doi: 10.1016/j.ajhg.2018.10.005. Epub 2018 Oct 25.

10.

The remarkable phenotypic variability of the p.Arg269HiS variant in the TRPV4 gene.

Jędrzejowska M, Dębek E, Kowalczyk B, Halat P, Kostera-Pruszczyk A, Ciara E, Jezela-Stanek A, Rydzanicz M, Gasperowicz P, Gos M.

Muscle Nerve. 2019 Jan;59(1):129-133. doi: 10.1002/mus.26346. Epub 2018 Oct 26.

PMID:
30230566
11.

Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease.

Wood L, Bassez G, Bleyenheuft C, Campbell C, Cossette L, Jimenez-Moreno AC, Dai Y, Dawkins H, Manera JAD, Dogan C, El Sherif R, Fossati B, Graham C, Hilbert J, Kastreva K, Kimura E, Korngut L, Kostera-Pruszczyk A, Lindberg C, Lindvall B, Luebbe E, Lusakowska A, Mazanec R, Meola G, Orlando L, Takahashi MP, Peric S, Puymirat J, Rakocevic-Stojanovic V, Rodrigues M, Roxburgh R, Schoser B, Segovia S, Shatillo A, Thiele S, Tournev I, van Engelen B, Vohanka S, Lochmüller H.

Orphanet J Rare Dis. 2018 Sep 5;13(1):155. doi: 10.1186/s13023-018-0889-0. Erratum in: Orphanet J Rare Dis. 2019 Aug 15;14(1):199.

12.

Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness.

Johnson K, Bertoli M, Phillips L, Töpf A, Van den Bergh P, Vissing J, Witting N, Nafissi S, Jamal-Omidi S, Łusakowska A, Kostera-Pruszczyk A, Potulska-Chromik A, Deconinck N, Wallgren-Pettersson C, Strang-Karlsson S, Colomer J, Claeys KG, De Ridder W, Baets J, von der Hagen M, Fernández-Torrón R, Zulaica Ijurco M, Espinal Valencia JB, Hahn A, Durmus H, Willis T, Xu L, Valkanas E, Mullen TE, Lek M, MacArthur DG, Straub V.

Skelet Muscle. 2018 Jul 30;8(1):23. doi: 10.1186/s13395-018-0170-1.

13.

WITHDRAWN: Evidence for a relatively high proportion of DM2 mutations in a large group of Polish patients.

Sulek A, Lusakowska A, Krysa W, Rajkiewicz M, Kaminska A, Nojszewska M, Kostera-Pruszczyk A, Zdzienicka E, Kubalska J, Rakowicz M, Szirkowiec W, Kwiecinski H, Zaremba J.

Neurol Neurochir Pol. 2018 May 17. pii: S0028-3843(18)30152-X. doi: 10.1016/j.pjnns.2018.04.004. [Epub ahead of print]

14.

Serum interleukin 15 levels in patients with seropositive myasthenia gravis do not correlate with disease severity.

Sobieszczuk E, Kubiszewska J, Lipowska M, Szczudlik P, Szyluk B, Dutkiewicz M, Kostera-Pruszczyk A.

Neurol Neurochir Pol. 2018 May - Jun;52(3):364-367. doi: 10.1016/j.pjnns.2017.12.011. Epub 2018 Jan 6.

PMID:
29699793
15.

Heme Oxygenase-1 Influences Satellite Cells and Progression of Duchenne Muscular Dystrophy in Mice.

Pietraszek-Gremplewicz K, Kozakowska M, Bronisz-Budzynska I, Ciesla M, Mucha O, Podkalicka P, Madej M, Glowniak U, Szade K, Stepniewski J, Jez M, Andrysiak K, Bukowska-Strakova K, Kaminska A, Kostera-Pruszczyk A, Jozkowicz A, Loboda A, Dulak J.

Antioxid Redox Signal. 2018 Jul 10;29(2):128-148. doi: 10.1089/ars.2017.7435. Epub 2018 May 23.

PMID:
29669436
16.

Evidence for a relatively high proportion of DM2 mutations in a large group of Polish patients.

Sulek A, Lusakowska A, Krysa W, Rajkiewicz M, Kaminska A, Nojszewska M, Kostera-Pruszczyk A, Zdzienicka E, Kubalska J, Rakowicz M, Szirkowiec W, Kwiecinski H, Zaremba J.

Neurol Neurochir Pol. 2018 Nov - Dec;52(6):736-742. doi: 10.1016/j.pjnns.2018.02.008. Epub 2018 Mar 7.

PMID:
29588063
17.

Electromyographic findings in sporadic inclusion body myositis.

Nojszewska M, Gawel M, Kierdaszuk B, Sierdziński J, Szmidt-Sałkowska E, Seroka A, Kamińska AM, Kostera-Pruszczyk A.

J Electromyogr Kinesiol. 2018 Apr;39:114-119. doi: 10.1016/j.jelekin.2018.02.003. Epub 2018 Feb 11.

PMID:
29482084
18.

Propafenone is not effective for severe ventricular arrhythmias in Andersen-Tawil syndrome.

Bienias P, Kostera-Pruszczyk A, Miszczak-Knecht M, Ciurzyński M, Pruszczyk P.

Arch Med Sci. 2018 Jan;14(1):248-250. doi: 10.5114/aoms.2016.61010. Epub 2016 Jun 30. No abstract available.

19.

Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness.

Johnson K, Töpf A, Bertoli M, Phillips L, Claeys KG, Stojanovic VR, Perić S, Hahn A, Maddison P, Akay E, Bastian AE, Łusakowska A, Kostera-Pruszczyk A, Lek M, Xu L, MacArthur DG, Straub V.

Orphanet J Rare Dis. 2017 Nov 17;12(1):173. doi: 10.1186/s13023-017-0722-1.

20.

Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database.

Koeks Z, Bladen CL, Salgado D, van Zwet E, Pogoryelova O, McMacken G, Monges S, Foncuberta ME, Kekou K, Kosma K, Dawkins H, Lamont L, Bellgard MI, Roy AJ, Chamova T, Guergueltcheva V, Chan S, Korngut L, Campbell C, Dai Y, Wang J, Barišić N, Brabec P, Lähdetie J, Walter MC, Schreiber-Katz O, Karcagi V, Garami M, Herczegfalvi A, Viswanathan V, Bayat F, Buccella F, Ferlini A, Kimura E, van den Bergen JC, Rodrigues M, Roxburgh R, Lusakowska A, Kostera-Pruszczyk A, Santos R, Neagu E, Artemieva S, Rasic VM, Vojinovic D, Posada M, Bloetzer C, Klein A, Díaz-Manera J, Gallardo E, Karaduman AA, Oznur T, Topaloğlu H, El Sherif R, Stringer A, Shatillo AV, Martin AS, Peay HL, Kirschner J, Flanigan KM, Straub V, Bushby K, Béroud C, Verschuuren JJ, Lochmüller H.

J Neuromuscul Dis. 2017;4(4):293-306. doi: 10.3233/JND-170280.

21.

Mechanical thrombectomy in acute stroke - Five years of experience in Poland.

Polish Thrombectomy Initiative, Słowik A, Wnuk M, Brzegowy P, Chrzanowska-Waśko J, Golenia A, Łasocha B, Włoch-Kopeć D, Ferens A, Serednicki W, Jarocki P, Bartosik-Psujek H, Kaczorowski R, Filip E, Grzegorzak M, Homa J, Darocha J, Dudek D, Guz W, Rejdak K, Luchowski P, Wojczal J, Sojka M, Górnik M, Stachowicz S, Jaworski J, Buraczyńska K, Ficek R, Szczepańska-Szerej A, Jargiełło T, Szczerbo-Trojanowska M, Lasek-Bal A, Puz P, Warsz-Wianecka A, Stęposz A, Ziaja K, Kuczmik W, Urbanek T, Ziaja D, Tomalski W, Kobayashi A, Richter P, Płoński A, Kotkowski M, Czepiel W, Kurkowska-Jastrzębska I, Sienkiewicz-Jarosz H, Członkowska A, BłażejewskaHyżorek B, Ryglewicz D, Konopko M, Brelak E, Antecki J, Szydłowski I, Włosek M, Stępień A, Brzozowski K, Staszewski J, Piasecki P, Zięcina P, Wołoszyńska I, Kolmaga N, Narloch J, Hasiec T, Gawłowicz J, Pędracka M, Porębiak J, Grzechnik B, Matsibora V, Frąszczak M, Leus M, Mazgaj M, Palacz-Duda V, Meder G, Skura W, Płeszka P, Świtońska M, Słomiński K, Kościelniak J, Sobieszak-Skura P, Konieczna-Brazis M, Rowiński O, Opuchlik A, Mickielewicz A, Szyluk B, Szczudlik P, Kostera-Pruszczyk A, Jaworski M, Maciąg R, Żyłkowski J, Adamkiewicz B, Szubert W, Chrząstek J, Raźniewski M, Pawelec A, Wilimborek P, Wagner R, Pilarski P, Gierach P, Baron J, Gruszka W, Ochudło S, Krzak-Kubica A, Rudzińska-Bar M, Zbroszczyk M, Smulska K, Arkuszewski M, Różański D, Koziorowski D, Meisner-Kramarz I, Szlufik S, Zaczyński A, Kądziołka K, Kordecki K, Zawadzki M, Ząbek M, Karaszewski B, Gąsecki D, Łowiec P, Dorniak W, Gorycki T, Szurowska E, Wierzchowska-Cioch E, Smyk T, Szajnoga B, Bachta M, Mazurek K, Piwowarska M, Kociemba W, Drużdż A, Dąbrowski A, Glonek M, Wawrzyniak M, Kaźmierski R, Juszkat R, Tomalski W, Heliosz A, Ryszczyk A, Zwiernik J, Wasilewski G, Tutaj A, Dałek G, Nosek K, Bereza S, Lubkowska K, Kamienowski J, Sobolewski P, Bielecki A, Miś M, Miś M, Krużewska-Orłowska M, Kochanowicz J, Mariak Z, Jakoniuk M, Turek G, Łebkowska U, Lewszuk A, Kordecki K, Dziedzic T, Popiela T.

Neurol Neurochir Pol. 2017 Sep - Oct;51(5):339-346. doi: 10.1016/j.pjnns.2017.05.004. Epub 2017 Jul 5.

PMID:
28756015
22.

Abnormal spontaneous activity in primary myopathic disorders.

Nojszewska M, Gawel M, Szmidt-Salkowska E, Kostera-Pruszczyk A, Potulska-Chromik A, Lusakowska A, Kierdaszuk B, Lipowska M, Macias A, Gawel D, Seroka A, Kaminska AM.

Muscle Nerve. 2017 Sep;56(3):427-432. doi: 10.1002/mus.25521. Epub 2017 Jun 17.

PMID:
28000226
23.

European Cross-Sectional Survey of Current Care Practices for Duchenne Muscular Dystrophy Reveals Regional and Age-Dependent Differences.

Vry J, Gramsch K, Rodger S, Thompson R, Steffensen BF, Rahbek J, Doerken S, Tassoni A, Beytía ML, Guergueltcheva V, Chamova T, Tournev I, Kostera-Pruszczyk A, Kaminska A, Lusakowska A, Mrazova L, Pavlovska L, Strenkova J, Vondráček P, Garami M, Karcagi V, Herczegfalvi Á, Bushby K, Lochmüller H, Kirschner J.

J Neuromuscul Dis. 2016 Nov 29;3(4):517-527.

24.

Prevalence and impact of autoimmune thyroid disease on myasthenia gravis course.

Kubiszewska J, Szyluk B, Szczudlik P, Bartoszewicz Z, Dutkiewicz M, Bielecki M, Bednarczuk T, Kostera-Pruszczyk A.

Brain Behav. 2016 Aug 4;6(10):e00537. eCollection 2016 Oct.

25.

Dopa-responsive dystonia or early-onset Parkinson disease - Genotype-phenotype correlation.

Potulska-Chromik A, Hoffman-Zacharska D, Łukawska M, Kostera-Pruszczyk A.

Neurol Neurochir Pol. 2017 Jan - Feb;51(1):1-6. doi: 10.1016/j.pjnns.2016.07.013. Epub 2016 Sep 12.

PMID:
27667361
26.

Randomized Trial of Thymectomy in Myasthenia Gravis.

Wolfe GI, Kaminski HJ, Aban IB, Minisman G, Kuo HC, Marx A, Ströbel P, Mazia C, Oger J, Cea JG, Heckmann JM, Evoli A, Nix W, Ciafaloni E, Antonini G, Witoonpanich R, King JO, Beydoun SR, Chalk CH, Barboi AC, Amato AA, Shaibani AI, Katirji B, Lecky BR, Buckley C, Vincent A, Dias-Tosta E, Yoshikawa H, Waddington-Cruz M, Pulley MT, Rivner MH, Kostera-Pruszczyk A, Pascuzzi RM, Jackson CE, Garcia Ramos GS, Verschuuren JJ, Massey JM, Kissel JT, Werneck LC, Benatar M, Barohn RJ, Tandan R, Mozaffar T, Conwit R, Odenkirchen J, Sonett JR, Jaretzki A 3rd, Newsom-Davis J, Cutter GR; MGTX Study Group.

N Engl J Med. 2016 Aug 11;375(6):511-22. doi: 10.1056/NEJMoa1602489. Erratum in: N Engl J Med. 2017 May 25;376(21):2097. [Dosage error in article text].

27.

Novel Col12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defects.

Punetha J, Kesari A, Hoffman EP, Gos M, Kamińska A, Kostera-Pruszczyk A, Hausmanowa-Petrusewicz I, Hu Y, Zou Y, Bönnemann CG, JȨdrzejowska M.

Muscle Nerve. 2017 Feb;55(2):277-281. doi: 10.1002/mus.25232. Epub 2016 Nov 30.

28.

Titin antibodies in "seronegative" myasthenia gravis--A new role for an old antigen.

Stergiou C, Lazaridis K, Zouvelou V, Tzartos J, Mantegazza R, Antozzi C, Andreetta F, Evoli A, Deymeer F, Saruhan-Direskeneli G, Durmus H, Brenner T, Vaknin A, Berrih-Aknin S, Behin A, Sharshar T, De Baets M, Losen M, Martinez-Martinez P, Kleopa KA, Zamba-Papanicolaou E, Kyriakides T, Kostera-Pruszczyk A, Szczudlik P, Szyluk B, Lavrnic D, Basta I, Peric S, Tallaksen C, Maniaol A, Gilhus NE, Casasnovas Pons C, Pitha J, Jakubíkova M, Hanisch F, Bogomolovas J, Labeit D, Labeit S, Tzartos SJ.

J Neuroimmunol. 2016 Mar 15;292:108-15. doi: 10.1016/j.jneuroim.2016.01.018. Epub 2016 Jan 27.

PMID:
26943968
29.

Amifampridine phosphate (Firdapse(®)) is effective and safe in a phase 3 clinical trial in LEMS.

Oh SJ, Shcherbakova N, Kostera-Pruszczyk A, Alsharabati M, Dimachkie M, Blanco JM, Brannagan T, Lavrnić D, Shieh PB, Vial C, Meisel A, Komoly S, Schoser B, Sivakumar K, So Y; LEMS Study Group.

Muscle Nerve. 2016 May;53(5):717-25. doi: 10.1002/mus.25070. Epub 2016 Mar 3.

PMID:
26852139
30.

Are electrophysiological criteria useful in distinguishing childhood demyelinating neuropathies?

Potulska-Chromik A, Ryniewicz B, Aragon-Gawinska K, Kabzinska D, Seroka A, Lipowska M, Kaminska AM, Kostera-Pruszczyk A.

J Peripher Nerv Syst. 2016 Mar;21(1):22-6. doi: 10.1111/jns.12152. Erratum in: J Peripher Nerv Syst. 2016 Jun;21(2):117.

PMID:
26663344
31.

Motor unit number estimation as a complementary test to routine electromyography in the diagnosis of amyotrophic lateral sclerosis.

Gawel M, Zalewska E, Lipowska M, Kostera-Pruszczyk A, Szmidt-Salkowska E, Kaminska A.

J Electromyogr Kinesiol. 2016 Feb;26:60-5. doi: 10.1016/j.jelekin.2015.11.001. Epub 2015 Nov 11.

PMID:
26614440
32.

Genome-Wide Association Study of Late-Onset Myasthenia Gravis: Confirmation of TNFRSF11A and Identification of ZBTB10 and Three Distinct HLA Associations.

Seldin MF, Alkhairy OK, Lee AT, Lamb JA, Sussman J, Pirskanen-Matell R, Piehl F, Verschuuren JJGM, Kostera-Pruszczyk A, Szczudlik P, McKee D, Maniaol AH, Harbo HF, Lie BA, Melms A, Garchon HJ, Willcox N, Gregersen PK, Hammarstrom L.

Mol Med. 2016 Mar;21(1):769-781. doi: 10.2119/molmed.2015.00232. Epub 2015 Nov 10.

33.

BAG3-related myopathy, polyneuropathy and cardiomyopathy with long QT syndrome.

Kostera-Pruszczyk A, Suszek M, Płoski R, Franaszczyk M, Potulska-Chromik A, Pruszczyk P, Sadurska E, Karolczak J, Kamińska AM, Rędowicz MJ.

J Muscle Res Cell Motil. 2015 Dec;36(6):423-32. doi: 10.1007/s10974-015-9431-3. Epub 2015 Nov 6.

34.

Yeast model analysis of novel polymerase gamma variants found in patients with autosomal recessive mitochondrial disease.

Kaliszewska M, Kruszewski J, Kierdaszuk B, Kostera-Pruszczyk A, Nojszewska M, Łusakowska A, Vizueta J, Sabat D, Lutyk D, Lower M, Piekutowska-Abramczuk D, Kaniak-Golik A, Pronicka E, Kamińska A, Bartnik E, Golik P, Tońska K.

Hum Genet. 2015 Sep;134(9):951-66. doi: 10.1007/s00439-015-1578-x. Epub 2015 Jun 16.

35.

X-linked spinal muscular atrophy (SMAX2) caused by de novo c.1731C>T substitution in the UBA1 gene.

Jędrzejowska M, Jakubowska-Pietkiewicz E, Kostera-Pruszczyk A.

Neuromuscul Disord. 2015 Aug;25(8):661-6. doi: 10.1016/j.nmd.2015.05.001. Epub 2015 May 8.

PMID:
26028276
36.

MuSK autoantibodies in myasthenia gravis detected by cell based assay--A multinational study.

Tsonis AI, Zisimopoulou P, Lazaridis K, Tzartos J, Matsigkou E, Zouvelou V, Mantegazza R, Antozzi C, Andreetta F, Evoli A, Deymeer F, Saruhan-Direskeneli G, Durmus H, Brenner T, Vaknin A, Berrih-Aknin S, Behin A, Sharshar T, De Baets M, Losen M, Martinez-Martinez P, Kleopa KA, Zamba-Papanicolaou E, Kyriakides T, Kostera-Pruszczyk A, Szczudlik P, Szyluk B, Lavrnic D, Basta I, Peric S, Tallaksen C, Maniaol A, Casasnovas Pons C, Pitha J, Jakubíkova M, Hanisch F, Tzartos SJ.

J Neuroimmunol. 2015 Jul 15;284:10-7. doi: 10.1016/j.jneuroim.2015.04.015. Epub 2015 Apr 27.

PMID:
26025053
37.

The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations.

Bladen CL, Salgado D, Monges S, Foncuberta ME, Kekou K, Kosma K, Dawkins H, Lamont L, Roy AJ, Chamova T, Guergueltcheva V, Chan S, Korngut L, Campbell C, Dai Y, Wang J, Barišić N, Brabec P, Lahdetie J, Walter MC, Schreiber-Katz O, Karcagi V, Garami M, Viswanathan V, Bayat F, Buccella F, Kimura E, Koeks Z, van den Bergen JC, Rodrigues M, Roxburgh R, Lusakowska A, Kostera-Pruszczyk A, Zimowski J, Santos R, Neagu E, Artemieva S, Rasic VM, Vojinovic D, Posada M, Bloetzer C, Jeannet PY, Joncourt F, Díaz-Manera J, Gallardo E, Karaduman AA, Topaloğlu H, El Sherif R, Stringer A, Shatillo AV, Martin AS, Peay HL, Bellgard MI, Kirschner J, Flanigan KM, Straub V, Bushby K, Verschuuren J, Aartsma-Rus A, Béroud C, Lochmüller H.

Hum Mutat. 2015 Apr;36(4):395-402. doi: 10.1002/humu.22758. Epub 2015 Mar 17.

38.

Motor unit loss estimation by the multipoint incremental MUNE method in children with spinal muscular atrophy--a preliminary study.

Gawel M, Kostera-Pruszczyk A, Lusakowska A, Jedrzejowska M, Ryniewicz B, Lipowska M, Gawel D, Kaminska A.

Neuromuscul Disord. 2015 Mar;25(3):216-21. doi: 10.1016/j.nmd.2014.11.012. Epub 2014 Nov 25.

PMID:
25500012
39.

MLPA based detection of mutations in the dystrophin gene of 180 Polish families with Duchenne/Becker muscular dystrophy.

Zimowski JG, Massalska D, Holding M, Jadczak S, Fidziańska E, Lusakowska A, Kostera-Pruszczyk A, Kamińska A, Zaremba J.

Neurol Neurochir Pol. 2014;48(6):416-22. doi: 10.1016/j.pjnns.2014.10.004. Epub 2014 Oct 24.

PMID:
25482253
40.

Exome sequencing reveals mutations in MFN2 and GDAP1 in severe Charcot-Marie-Tooth disease.

Kostera-Pruszczyk A, Kosinska J, Pollak A, Stawinski P, Walczak A, Wasilewska K, Potulska-Chromik A, Szczudlik P, Kaminska A, Ploski R.

J Peripher Nerv Syst. 2014 Sep;19(3):242-5. doi: 10.1111/jns.12088.

PMID:
25403865
41.

VAV1 and BAFF, via NFκB pathway, are genetic risk factors for myasthenia gravis.

Avidan N, Le Panse R, Harbo HF, Bernasconi P, Poulas K, Ginzburg E, Cavalcante P, Colleoni L, Baggi F, Antozzi C, Truffault F, Horn-Saban S, Pöschel S, Zagoriti Z, Maniaol A, Lie BA, Bernard I, Saoudi A, Illes Z, Casasnovas Pons C, Melms A, Tzartos S, Willcox N, Kostera-Pruszczyk A, Tallaksen C, Mantegazza R, Berrih-Aknin S, Miller A.

Ann Clin Transl Neurol. 2014 May;1(5):329-39. doi: 10.1002/acn3.51. Epub 2014 Apr 11.

42.

[Authors' response].

Bienias P, Kostera-Pruszczyk A, Bieganowska K, Miszczak-Knecht M, Pruszczyk P.

Kardiol Pol. 2014;72(10):995-6. doi: 10.5603/KP.2014.0205. Polish. No abstract available.

43.

The LITAF/SIMPLE I92V sequence variant results in an earlier age of onset of CMT1A/HNPP diseases.

Sinkiewicz-Darol E, Lacerda AF, Kostera-Pruszczyk A, Potulska-Chromik A, Sokołowska B, Kabzińska D, Brunetti CR, Hausmanowa-Petrusewicz I, Kochański A.

Neurogenetics. 2015 Jan;16(1):27-32. doi: 10.1007/s10048-014-0426-9. Epub 2014 Oct 24.

44.

Should a cardioverter-defibrillator be implanted in an Andersen-Tawil syndrome patient with severe ventricular arrhythmias and syncope?

Bienias P, Kostera-Pruszczyk A, Bieganowska K, Miszczak-Knecht M, Pruszczyk P.

Kardiol Pol. 2014;72(8):755. doi: 10.5603/KP.2014.0153. No abstract available.

45.

Antititin antibody in early- and late-onset myasthenia gravis.

Szczudlik P, Szyluk B, Lipowska M, Ryniewicz B, Kubiszewska J, Dutkiewicz M, Gilhus NE, Kostera-Pruszczyk A.

Acta Neurol Scand. 2014 Oct;130(4):229-33. doi: 10.1111/ane.12271. Epub 2014 Jun 20.

PMID:
24947881
46.

Effect of age and gender on the number of motor units in healthy subjects estimated by the multipoint incremental MUNE method.

Gawel M, Kostera-Pruszczyk A.

J Clin Neurophysiol. 2014 Jun;31(3):272-8. doi: 10.1097/WNP.0000000000000066.

PMID:
24887612
47.

Andersen-Tawil syndrome: report of 3 novel mutations and high risk of symptomatic cardiac involvement.

Kostera-Pruszczyk A, Potulska-Chromik A, Pruszczyk P, Bieganowska K, Miszczak-Knecht M, Bienias P, Szczałuba K, Lee HY, Quinn E, Ploski R, Kaminska A, Ptáček LJ.

Muscle Nerve. 2015 Feb;51(2):192-6. doi: 10.1002/mus.24293. Epub 2014 Nov 19.

PMID:
24861851
48.

Novel point mutations in survival motor neuron 1 gene expand the spectrum of phenotypes observed in spinal muscular atrophy patients.

Jędrzejowska M, Gos M, Zimowski JG, Kostera-Pruszczyk A, Ryniewicz B, Hausmanowa-Petrusewicz I.

Neuromuscul Disord. 2014 Jul;24(7):617-23. doi: 10.1016/j.nmd.2014.04.003. Epub 2014 Apr 24.

PMID:
24844453
49.

Clinical, electrophysiological, and molecular findings in early onset hereditary neuropathy with liability to pressure palsy.

Potulska-Chromik A, Sinkiewicz-Darol E, Ryniewicz B, Lipowska M, Kabzińska D, Kochański A, Kostera-Pruszczyk A.

Muscle Nerve. 2014 Dec;50(6):914-8. doi: 10.1002/mus.24250. Epub 2014 Oct 30.

PMID:
24668782
50.

A comprehensive analysis of the epidemiology and clinical characteristics of anti-LRP4 in myasthenia gravis.

Zisimopoulou P, Evangelakou P, Tzartos J, Lazaridis K, Zouvelou V, Mantegazza R, Antozzi C, Andreetta F, Evoli A, Deymeer F, Saruhan-Direskeneli G, Durmus H, Brenner T, Vaknin A, Berrih-Aknin S, Frenkian Cuvelier M, Stojkovic T, DeBaets M, Losen M, Martinez-Martinez P, Kleopa KA, Zamba-Papanicolaou E, Kyriakides T, Kostera-Pruszczyk A, Szczudlik P, Szyluk B, Lavrnic D, Basta I, Peric S, Tallaksen C, Maniaol A, Tzartos SJ.

J Autoimmun. 2014 Aug;52:139-45. doi: 10.1016/j.jaut.2013.12.004. Epub 2013 Dec 24.

PMID:
24373505

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