M. Berdyński

发表

Frontotemporal lobar degeneration with MAPT mutation in an Italian-Polish family. A case report.

C. Żekanowski, J. Zaremba, E. Lewandowska, 2014, Folia neuropathologica.

Myosin VI Localization and Expression in Striated Muscle Pathology

E. Ehler, A. Kaminska, C. Żekanowski, 2014, Anatomical record.

Intra-familial clinical heterogeneity due to FTLD-U with TDP-43 proteinopathy caused by a novel deletion in progranulin gene (PGRN).

P. S. St George-Hyslop, M. Barcikowska, A. Barczak, 2011, Journal of Alzheimer's disease : JAD.

Common ALDH3A1 Gene Variant Associated with Keratoconus Risk in the Polish Population

K. Safranow, J. Szaflik, J. Giebułtowicz, 2021, Journal of clinical medicine.

Comprehensive analysis to explain reduced or increased SOD1 enzymatic activity in ALS patients and their relatives

P. Andersen, A. Birve, J. Glass, 2017, Amyotrophic lateral sclerosis & frontotemporal degeneration.

The BTBD9 gene polymorphisms in Polish patients with Gilles de la Tourette syndrome.

K. Safranow, P. Janik, C. Żekanowski, 2014, Acta neurobiologiae experimentalis.

TREM2 Gene Compound Heterozygosity in Neurodegenerative Disorders.

A. Barczak, S. Dunin-Horkawicz, J. Ludwiczak, 2022, Journal of Alzheimer's disease : JAD.

Recurrent K3E mutation in Cu/Zn superoxide dismutase gene associated with amyotrophic lateral sclerosis

S. Tsuji, M. Morita, K. Kaida, 2013, Amyotrophic lateral sclerosis & frontotemporal degeneration.

Recurrent G41S mutation in Cu/Zn superoxide dismutase gene (SOD1) causing familial amyotrophic lateral sclerosis in a large Polish family

V. Meininger, F. Salachas, A. Łusakowska, 2012, Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.

Analysis of PITX3 gene in patients with multisystem atrophy, progressive supranuclear palsy and corticobasal degeneration.

H. Kwiecinski, J. Sławek, C. Żekanowski, 2013, Annals of clinical and laboratory science.

A novel mutation in the DNM2 gene impairs dynamin 2 localization in skeletal muscle of a patient with late onset centronuclear myopathy

A. Kaminska, C. Żekanowski, M. Rędowicz, 2013, Neuromuscular Disorders.

Two Desmin Gene Mutations Associated with Myofibrillar Myopathies in Polish Families

S. Filipek, P. Miszta, A. Kaminska, 2014, PloS one.

PIN1 gene variants in Alzheimer's disease

M. Barcikowska, K. Safranow, D. Chlubek, 2009, BMC Medical Genetics.

SOD1 mutations associated with amyotrophic lateral sclerosis analysis of variant severity

P. Andersen, M. Morita, S. Filipek, 2022, Scientific reports.

A Novel MAPT Mutation, G55R, in a Frontotemporal Dementia Patient Leads to Altered Tau Function

M. Barcikowska, A. Barczak, S. Feinstein, 2013, PloS one.

Association of ADORA1 rs2228079 and ADORA2A rs5751876 Polymorphisms with Gilles de la Tourette Syndrome in the Polish Population

K. Safranow, P. Janik, C. Żekanowski, 2015, PloS one.

Two Rare Variants in PLAU and BACE1 Genes—Do They Contribute to Semantic Dementia Clinical Phenotype?

M. Korostyński, E. Sitek, J. Sławek, 2021, Genes.

Parkin Levels Decrease in Fibroblasts With Progranulin (PGRN) Pathogenic Variants and in a Cellular Model of PGRN Deficiency

D. Walerych, E. Buratti, C. Żekanowski, 2021, Frontiers in Molecular Neuroscience.

Putative founder effect in the Polish, Iranian and United States populations for the L144S SOD1 mutation associated with slowly uniform phenotype of amyotrophic lateral sclerosis

P. Andersen, M. Morita, E. Elahi, 2020, Amyotrophic lateral sclerosis & frontotemporal degeneration.

Assessment of Olfactory Function in MAPT-Associated Neurodegenerative Disease Reveals Odor-Identification Irreproducibility as a Non-Disease-Specific, General Characteristic of Olfactory Dysfunction

M. Barcikowska, Z. Wszolek, A. Strongosky, 2016, PloS one.

Agraphia in patients with frontotemporal dementia and parkinsonism linked to chromosome 17 with P301L MAPT mutation: dysexecutive, aphasic, apraxic or spatial phenomenon?

K. Heilman, M. Barcikowska, A. Barczak, 2014, Neurocase.

Overactive BRCA1 Affects Presenilin 1 in Induced Pluripotent Stem Cell-Derived Neurons in Alzheimer's Disease.

M. Skrzypczak, K. Ginalski, B. Pepłońska, 2018, Journal of Alzheimer's disease : JAD.

TREM2 variants in neurodegenerative disorders in the Polish population. Homozygosity and compound heterozygosity in FTD patients

M. Barcikowska, B. Pepłońska, A. Barczak, 2018, Amyotrophic lateral sclerosis & frontotemporal degeneration.

Sporadic inclusion body myositis: clinical, pathological, and genetic analysis of eight Polish patients.

P. Palczewski, M. Gołębiowski, A. Kaminska, 2015, Folia neuropathologica.

Rare Variant in the SLC6A2 Encoding a Norepinephrine Transporter Is Associated with Elite Athletic Performance in the Polish Population

K. Safranow, C. Żekanowski, P. Cięszczyk, 2021, Genes.

Common Myelin Regulatory Factor Gene Variants Predisposing to Excellence in Sports

B. Pepłońska, Monika Michałowska-Sawczyn, A. Gurgul, 2021, Genes.

Assessment of Olfactory Function in MAPTAssociated Assessment of Olfactory Function in MAPTAssociated Neurodegenerative Disease Reveals Odor-Identification Neurodegenerative Disease Reveals Odor-Identification Irreproducibility as a Non-Disease-Specific, General Characteristic Irreproducibility as a

M. Barcikowska, Z. Wszolek, A. Strongosky, 2023 .

PIN1 gene variants in Alzheimer's disease

D. Chlubek, C. Żekanowski, M. Styczyńska, 2009, BMC Medical Genetics.

TREM2 variants in neurodegenerative disorders in the Polish population. Homozygosity and compound heterozygosity in FTD patients

M. Barcikowska, B. Pepłońska, A. Barczak, 2018, Amyotrophic lateral sclerosis & frontotemporal degeneration.