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Items: 25

1.

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.

2.

Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.

Fichna JP, Macias A, Piechota M, Korostyński M, Potulska-Chromik A, Redowicz MJ, Zekanowski C.

Hum Genomics. 2018 Jul 3;12(1):34. doi: 10.1186/s40246-018-0167-1.

3.

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
4.

A novel dominant D109A CRYAB mutation in a family with myofibrillar myopathy affects αB-crystallin structure.

Fichna JP, Potulska-Chromik A, Miszta P, Redowicz MJ, Kaminska AM, Zekanowski C, Filipek S.

BBA Clin. 2016 Nov 11;7:1-7. eCollection 2017 Jun.

5.

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
6.

Efficacy and safety of abobotulinumtoxinA liquid formulation in cervical dystonia: A randomized-controlled trial.

Poewe W, Burbaud P, Castelnovo G, Jost WH, Ceballos-Baumann AO, Banach M, Potulska-Chromik A, Ferreira JJ, Bihari K, Ehler E, Bares M, Dzyak LA, Belova AN, Pham E, Liu WJ, Picaut P.

Mov Disord. 2016 Nov;31(11):1649-1657. doi: 10.1002/mds.26760. Epub 2016 Sep 21.

PMID:
27653448
7.

Scintigraphic Evaluation of Mild to Moderate Dysphagia in Motor Neuron Disease.

Szacka K, Potulska-Chromik A, Fronczewska-Wieniawska K, Spychała A, Kròlicki L, Kuźma-Kozakiewicz M.

Clin Nucl Med. 2016 Apr;41(4):e175-80. doi: 10.1097/RLU.0000000000001162.

PMID:
26914558
8.

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
9.

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.

10.

Genomic instability in the PARK2 locus is associated with Parkinson's disease.

Ambroziak W, Koziorowski D, Duszyc K, Górka-Skoczylas P, Potulska-Chromik A, Sławek J, Hoffman-Zacharska D.

J Appl Genet. 2015 Nov;56(4):451-461. doi: 10.1007/s13353-015-0282-9. Epub 2015 Apr 2.

11.

Two desmin gene mutations associated with myofibrillar myopathies in Polish families.

Fichna JP, Karolczak J, Potulska-Chromik A, Miszta P, Berdynski M, Sikorska A, Filipek S, Redowicz MJ, Kaminska A, Zekanowski C.

PLoS One. 2014 Dec 26;9(12):e115470. doi: 10.1371/journal.pone.0115470. eCollection 2014.

12.

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
13.

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.

14.

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
15.

Clinical and neuroimaging correlation of movement disorders in multiple sclerosis: case series and review of the literature.

Potulska-Chromik A, Rudzinska M, Nojszewska M, Podlecka-Piętowska A, Szczudlik A, Zakrzewska-Pniewska B, Gołębiowski M.

Folia Neuropathol. 2014;52(1):92-100. Review.

16.

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
17.

Long lasting dysautonomia due to botulinum toxin B poisoning: clinical-laboratory follow up and difficulties in initial diagnosis.

Potulska-Chromik A, Zakrzewska-Pniewska B, Szmidt-Sałkowska E, Lewandowski J, Siński M, Przyjałkowski W, Kostera-Pruszczyk A.

BMC Res Notes. 2013 Oct 30;6:438. doi: 10.1186/1756-0500-6-438.

18.

Carpal tunnel syndrome in children.

Potulska-Chromik A, Lipowska M, Gawel M, Ryniewicz B, Maj E, Kostera-Pruszczyk A.

J Child Neurol. 2014 Feb;29(2):227-31. doi: 10.1177/0883073813504458. Epub 2013 Oct 1.

PMID:
24084629
19.

Incidence of mutations in the PARK2, PINK1, PARK7 genes in Polish early-onset Parkinson disease patients.

Koziorowski D, Hoffman-Zacharska D, Sławek J, Jamrozik Z, Janik P, Potulska-Chromik A, Roszmann A, Tataj R, Bal J, Friedman A.

Neurol Neurochir Pol. 2013 Jul-Aug;47(4):319-24.

PMID:
23986421
20.

Novel A18T and pA29S substitutions in α-synuclein may be associated with sporadic Parkinson's disease.

Hoffman-Zacharska D, Koziorowski D, Ross OA, Milewski M, Poznanski JA, Jurek M, Wszolek ZK, Soto-Ortolaza A, Awek JAS, Janik P, Jamrozik Z, Potulska-Chromik A, Jasinska-Myga B, Opala G, Krygowska-Wajs A, Czyzewski K, Dickson DW, Bal J, Friedman A.

Parkinsonism Relat Disord. 2013 Nov;19(11):1057-1060. doi: 10.1016/j.parkreldis.2013.07.011. Epub 2013 Aug 2.

21.

Charcot-Marie-Tooth type 1C disease coexisting with progressive multiple sclerosis: a study of an overlapping syndrome.

Potulska-Chromik A, Sinkiewicz-Darol E, Kostera-Pruszczyk A, Drac H, Kabzińska D, Zakrzewska-Pniewska B, Gołębiowski M, Kochański A.

Folia Neuropathol. 2012;50(4):369-74.

22.

A novel homozygous mutation in the WNK1/HSN2 gene causing hereditary sensory neuropathy type 2.

Potulska-Chromik A, Kabzińska D, Lipowska M, Kostera-Pruszczyk A, Kochański A.

Acta Biochim Pol. 2012;59(3):413-5. Epub 2012 Aug 21.

23.

Singular DYT6 phenotypes in association with new THAP1 frameshift mutations.

Blanchard A, Roubertie A, Simonetta-Moreau M, Ea V, Coquart C, Frederic MY, Gallouedec G, Adenis JP, Benatru I, Borg M, Burbaud P, Calvas P, Cif L, Damier P, Destee A, Faivre L, Guyant-Marechal L, Janik P, Janoura S, Kreisler A, Lusakowska A, Odent S, Potulska-Chromik A, Rudzińska M, Thobois S, Vuillaume I, Tranchant C, Tuffery-Giraud S, Coubes P, Sablonnière B, Claustres M, Collod-Béroud G.

Mov Disord. 2011 Aug 1;26(9):1775-7. doi: 10.1002/mds.23641. Epub 2011 Apr 25. No abstract available.

PMID:
21520283
24.

A new missense GDAP1 mutation disturbing targeting to the mitochondrial membrane causes a severe form of AR-CMT2C disease.

Kabzińska D, Niemann A, Drac H, Huber N, Potulska-Chromik A, Hausmanowa-Petrusewicz I, Suter U, Kochański A.

Neurogenetics. 2011 May;12(2):145-53. doi: 10.1007/s10048-011-0276-7. Epub 2011 Mar 2.

PMID:
21365284
25.

[Are botulinum toxin type A preparations really the same medication? A comparison of three botulinum toxin A for variations in labelled neurological indications].

Sławek J, Car H, Bonikowski M, Bogucki A, Koziorowski D, Potulska-Chromik A, Rudzińska M.

Neurol Neurochir Pol. 2010 Jan-Feb;44(1):43-64. Review. Polish.

PMID:
20358485

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