1 - 25 of 30 results for author:"Hausmanowa-Petrusewicz I." in Literature citations
Results Customize
› Repeat search in UniProtKB (8)
| Dominant GDAP1 mutations cause predominantly mild CMT phenotypes. Zimon M., Baets J., Fabrizi G.M., Jaakkola E., Kabzinska D., Pilch J., Schindler A.B., Cornblath D.R., Fischbeck K.H., Auer-Grumbach M. et al. Neurology 77:540-548(2011) · Mapped (6) |
| A new missense GDAP1 mutation disturbing targeting to the mitochondrial membrane causes a severe form of AR-CMT2C disease. Kabzinska D., Niemann A., Drac H., Huber N., Potulska-Chromik A., Hausmanowa-Petrusewicz I., Suter U., Kochanski A. Neurogenetics 12:145-153(2011) · Mapped (6) |
| Dysmyelinating and demyelinating Charcot-Marie-Tooth disease associated with two myelin protein zero gene mutations. Drac H., Kabzinska D., Moszynska I., Strugalska-Cynowska H., Hausmanowa-Petrusewicz I., Kochanski A. J. Appl. Genet. 52:177-183(2011) · Mapped (2) |
| Familial partial lipodystrophy associated with the heterozygous LMNA mutation 1445G>A (Arg482Gln) in a Polish family. Drac H., Madej-Pilarczyk A., Gospodarczyk-Szot K., Gawel M., Kwiecinski H., Hausmanowa-Petrusewicz I. Neurol. Neurochir. Pol. 44:291-296(2010) · Mapped (11) |
| Charcot-Marie-Tooth type 1A disease caused by a novel Ser112Arg mutation in the PMP22 gene, coexisting with a slowly progressive hearing impairment. Kabzinska D., Sinkiewicz-Darol E., Hausmanowa-Petrusewicz I., Kochanski A. J. Appl. Genet. 51:203-209(2010) · Mapped (4) |
| L239F founder mutation in GDAP1 is associated with a mild Charcot-Marie-Tooth type 4C4 (CMT4C4) phenotype. Kabzinska D., Strugalska-Cynowska H., Kostera-Pruszczyk A., Ryniewicz B., Posmyk R., Midro A., Seeman P., Barankova L., Zimon M., Baets J. et al. Neurogenetics 11:357-366(2010) · Mapped (6) |
| Incidence of spinal muscular atrophy in Poland--more frequent than predicted? Jedrzejowska M., Milewski M., Zimowski J., Zagozdzon P., Kostera-Pruszczyk A., Borkowska J., Sielska D., Jurek M., Hausmanowa-Petrusewicz I. Neuroepidemiology 34:152-157(2010) · Mapped (10) |
| Emery-Dreifuss dystrophy: a 4-year follow-up on a laminopathy of special interest. Hausmanowa-Petrusewicz I., Madej-Pilarczyk A., Marchel M., Opolski G. Neurol. Neurochir. Pol. 43:415-420(2009) · Mapped (13) |
| Matrix metalloproteinases in serum of Emery-Dreifuss muscular dystrophy patients. Niebroj-Dobosz I., Madej-Pilarczyk A., Marchel M., Sokolowska B., Hausmanowa-Petrusewicz I. Acta Biochim. Pol. 56:717-722(2009) · Mapped (2) |
| Phenotype modifiers of spinal muscular atrophy: the number of SMN2 gene copies, deletion in the NAIP gene and probably gender influence the course of the disease. Jedrzejowska M., Milewski M., Zimowski J., Borkowska J., Kostera-Pruszczyk A., Sielska D., Jurek M., Hausmanowa-Petrusewicz I. Acta Biochim. Pol. 56:103-108(2009) · Mapped (12) |
| Obliteration of cardiomyocyte nuclear architecture in a patient with LMNA gene mutation. Fidzianska A., Bilinska Z.T., Tesson F., Wagner T., Walski M., Grzybowski J., Ruzyllo W., Hausmanowa-Petrusewicz I. J. Neurol. Sci. 271:91-96(2008) · Mapped (11) |
| Charcot-Marie-Tooth disease type 4C4 caused by a novel Pro153Leu substitution in the GDAP1 gene. Kabzinska D., Saifi G.M., Drac H., Rowinska-Marcinska K., Hausmanowa-Petrusewicz I., Kochanski A., Lupski J.R. Acta Myol 26:108-111(2007) · Mapped (6) |
| Progeria caused by a rare LMNA mutation p.S143F associated with mild myopathy and atrial fibrillation. Madej-Pilarczyk A., Kmiec T., Fidzianska A., Rekawek J., Niebroj-Dobosz I., Turska-Kmiec A., Nestorowicz K., Jozwiak S., Hausmanowa-Petrusewicz I. Eur. J. Paediatr. Neurol. 12:427-430(2008) · Mapped (11) |
| Unaffected patients with a homozygous absence of the SMN1 gene. Jedrzejowska M., Borkowska J., Zimowski J., Kostera-Pruszczyk A., Milewski M., Jurek M., Sielska D., Kostyk E., Nyka W., Zaremba J. et al. Eur. J. Hum. Genet. 16:930-934(2008) · Mapped (10) |
| Silver syndrome--case report. Kochanski A., Dierick I., Timmerman V., Hausmanowa-Petrusewicz I. Neurol. Neurochir. Pol. 41:562-566(2007) · Mapped (2) |
| Late-onset Charcot-Marie-Tooth type 2 disease with hearing impairment associated with a novel Pro105Thr mutation in the MPZ gene. Kabzinska D., Korwin-Piotrowska T., Drechsler H., Drac H., Hausmanowa-Petrusewicz I., Kochanski A. Am. J. Med. Genet. A 143A:2196-2199(2007) · Mapped (2) |
| Is a novel I214M substitution in the NEFL gene a cause of Charcot-Marie-Tooth disease? Functional analysis using cell culture models. Kabzinska D., Perez-Olle R., Goryunov D., Drac H., Ryniewicz B., Hausmanowa-Petrusewicz I., Kochanski A., Liem R.K. J. Peripher. Nerv. Syst. 11:225-231(2006) · Mapped (7) |
| The inner nuclear membrane protein emerin regulates beta-catenin activity by restricting its accumulation in the nucleus. Markiewicz E., Tilgner K., Barker N., van de Wetering M., Clevers H., Dorobek M., Hausmanowa-Petrusewicz I., Ramaekers F.C.S., Broers J.L.V., Blankesteijn W.M. et al. |
| Charcot-Marie-Tooth type 4F disease caused by S399fsx410 mutation in the PRX gene. Kabzinska D., Drac H., Sherman D.L., Kostera-Pruszczyk A., Brophy P.J., Kochanski A., Hausmanowa-Petrusewicz I. Neurology 66:745-747(2006) · Mapped (1) |
| A novel Met116Thr mutation in the GDAP1 gene in a Polish family with the axonal recessive Charcot-Marie-Tooth type 4 disease. Kabzinska D., Kochanski A., Drac H., Rowinska-Marcinska K., Ryniewicz B., Pedrola L., Palau F., Hausmanowa-Petrusewicz I. J. Neurol. Sci. 241:7-11(2006) · Mapped (6) |
| A novel desmin R355P mutation causes cardiac and skeletal myopathy. Fidzianska A., Kotowicz J., Sadowska M., Goudeau B., Walczak E., Vicart P., Hausmanowa-Petrusewicz I. Neuromuscul. Disord. 15:525-531(2005) · UniProtKB (1) · Mapped (12) |
| SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation. Saifi G.M., Szigeti K., Wiszniewski W., Shy M.E., Krajewski K., Hausmanowa-Petrusewicz I., Kochanski A., Reeser S., Mancias P., Butler I. et al. Hum. Mutat. 25:372-383(2005) · UniProtKB (1) |
| Early onset Charcot-Marie-Tooth type 1B disease caused by a novel Leu190fs mutation in the myelin protein zero gene. Kochanski A., Kabzinska D., Drac H., Ryniewicz B., Rowinska-Marcinska K., Hausmanowa-Petrusewicz I. Eur. J. Paediatr. Neurol. 8:221-224(2004) · Mapped (2) |
| A novel MPZ gene mutation in congenital neuropathy with hypomyelination. Kochanski A., Drac H., Kabzinska D., Ryniewicz B., Rowinska-Marcinska K., Nowakowski A., Hausmanowa-Petrusewicz I. |
| A novel mutation, Thr65Ala, in the MPZ gene in a patient with Charcot-Marie-Tooth type 1B disease with focally folded myelin. Kochanski A., Drac H., Kabzinska D., Hausmanowa-Petrusewicz I. Neuromuscul. Disord. 14:229-232(2004) · UniProtKB (1) · Mapped (1) |