A Fidzianska
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Explore the profile of A Fidzianska including associated specialties, affiliations and a list of published articles.
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92
Citations
352
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Recent Articles
1.
Piekutowska-Abramczuk D, Pronicki M, Strawa K, Karkucinska-Wieckowska A, Szymanska-Debinska T, Fidzianska A, et al.
Clin Genet
. 2013 Jul;
85(6):573-7.
PMID: 23829229
This study reports clinical, biochemical and histopathological findings associated with a novel homozygous MPV17 mutation in four patients with mitochondrial depletion syndrome. The severe course of the disease, which started...
2.
Fidzianska A, Niebroj-Dobosz I, Madej-Pilarczyk A, Duong N, Wehnert M
Clin Neuropathol
. 2010 Feb;
29(2):78-83.
PMID: 20175956
The study demonstrates a 12-year-old patient with progressive proximal muscle weakness, joint contractures, rigidity of the neck, and absence of emerin and lamin A in the muscle nuclei, which is...
3.
Fidzianska A, Glinka Z, Kaminska A, Niebroj-Dobosz I
Clin Neuropathol
. 2009 Jan;
27(6):424-9.
PMID: 19130741
Objective: Sporadic inclusion body myositis (sIBM) is a chronic acquired inflammatory myopathy. The cause of sIBM remains unknown and its pathogenesis is controversial. There is a hypothesis [Karpati and Carpenter...
4.
Kabzinska D, Drac H, Rowinska-Marcinska K, Fidzianska A, Kochanski A, Hausmanowa-Petrusewicz I
Acta Myol
. 2006 Oct;
25(1):34-7.
PMID: 17039978
Mutations in the ganglioside -induced differentiation-associated protein 1 (GDAP1) gene are common a cause of the Charcot-Marie-Tooth (CMT4A) disease with autosomal recessive mode of inheritance. To date more than twenty...
5.
Rowinska-Marcinska K, Szmidt-Salkowska E, Fidzianska A, Zalewska E, Dorobek M, Karwanska A, et al.
Clin Neurophysiol
. 2005 Oct;
116(11):2520-7.
PMID: 16214403
Objective: The aim of the study was to analyse electromyographic changes in Emery-Dreifuss muscular dystrophy (EDMD) that are atypical for myopathy. Our special interest was focused on high amplitude polyphasic...
6.
Sylvius N, Bilinska Z, Veinot J, Fidzianska A, Bolongo P, Poon S, et al.
J Med Genet
. 2005 Aug;
42(8):639-47.
PMID: 16061563
Context: Lamin A/C (LMNA) gene variations have been reported in more than one third of genotyped families with dilated cardiomyopathy (DCM). However, the relationship between LMNA mutation and the development...
7.
Fidzianska A, Kaminska A, Ryniewicz B
Neuropediatrics
. 2005 Mar;
36(1):35-9.
PMID: 15776320
We report on a 16-year-old girl with a unique neuromuscular disorder characterised by progressive proximal muscle weakness and numerous tubular aggregates, intracytoplasmic, as well as intranuclear inclusions of the IBM...
8.
Niebroj-Dobosz I, Fidzianska A, Hausmanowa-Petrusewicz I
Acta Myol
. 2004 Feb;
22(2):52-7.
PMID: 14959564
Emerin and lamins are nuclear proteins, which are missing or defective in Emery-Dreifuss muscular dystrophy (EDMD). The aim of this study was to test the expression of these proteins in...
9.
Rafalowska J, Fidzianska A, Dziewulska D, Podlecka A, Szpak G, Kwiecinski H
Acta Neuropathol
. 2003 Oct;
106(6):569-74.
PMID: 14520480
We described the first two unrelated Polish families with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). In the morphological examination with light microscopy, two kinds of changes...
10.
Fidzianska A, Kaminska A
Neuropediatrics
. 2003 Apr;
34(1):40-4.
PMID: 12690567
We report a 17-year-old girl with an unusual neuromuscular disorder characterised by slowly progressive proximal muscle weakness whose muscle biopsy showed multiple ring fibres and numerous rimmed vacuoles as well...