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Neurological Research|July 22, 2004
CADASIL: what component of the vessel wall is really a target for Notch 3 gene mutations?Janina Rafalowska, Dorota Dziewulska, Anna Fidzianska
Clinical Neuropathology|August 9, 2013
Is mutation p.Arg168Gly in TPM3 gene responsible for Type 1 fiber hypoplasia and cap structure formation?Anna Fidzianska, Agnieszka Madej-Pilarczyk, Irena Hausmanowa-Petrusewicz
Neuropediatrics|March 19, 2013
Morphologic and clinical aspects of Danon disease in a patient with a mutation c.137G > A in the LAMP-2 geneAnna Fidzianska, Agnieszka Madej-Pilarczyk, Ewa Walczak, et al.
Neuromuscular Disorders : NMD|October 4, 2005
IBM-type inclusions in a patient with slow-channel syndrome caused by a mutation in the AChR epsilon subunitAnna Fidzianska, B Ryniewicz, Xing-Ming Shen, et al.
Clinical Neuropathology|April 2, 2015
Does aberrant architecture of nuclear LINC complex stop muscle cell development?Anna Fidzianska, Zofia Glinka, Przemko Kwinta, et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology|April 8, 2004
CADASIL or CADVaSIL?Janina Rafalowska, Anna Fidzianska, Dorota Dziewulska, et al.
Journal of Cardiovascular Magnetic Resonance : Official Journal of the Society for Cardiovascular Magnetic Resonance|May 1, 2009
Cardiovascular magnetic resonance findings in a case of Danon diseaseDorota Piotrowska-Kownacka, Lukasz Kownacki, Marek Kuch, et al.
Neuromuscular Disorders : NMD|September 29, 2006
Myofibrillar myopathy with congenital cataract and skeletal anomalies without mutations in the desmin, alphaB-crystallin, myotilin, LMNA or SEPN1 genesAnna Kostera-Pruszczyk, Bertrand Goudeau, Ana Ferreiro, et al.
Human Genetics|December 3, 2003
Small deletions disturb desmin architecture leading to breakdown of muscle cells and development of skeletal or cardioskeletal myopathyAnna Kaminska, Sergei V Strelkov, Bertrand Goudeau, et al.
The Journal of Clinical Investigation|August 7, 2002
Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome)Martin Tristani-Firouzi, Judy L Jensen, Matthew R Donaldson, et al.
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