Lista de obras -

A novel MAPT mutation, G55R, in a frontotemporal dementia patient leads to altered Tau function

artículo científico publicado en 2013

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

artículo científico publicado en 2013

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

artículo científico publicado en 2012

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

artículo científico publicado en 2013

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

artículo científico publicado en 2016

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

artículo científico publicado en 2015

Common Myelin Regulatory Factor Gene Variants Predisposing to Excellence in Sports

artículo científico publicado en 2021

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

artículo científico publicado en 2017

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

artículo científico publicado en 2014

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

artículo científico publicado en 2010

Myosin VI localization and expression in striated muscle pathology.

artículo científico publicado en 2014

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

artículo científico publicado en 2018

PIN1 gene variants in Alzheimer's disease

artículo científico publicado en 2009

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

scientific article published on 10 August 2020

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

artículo científico publicado en 2011

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

artículo científico publicado en 2013

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

artículo científico publicado en 2015

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

artículo científico publicado en 2018

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

Two desmin gene mutations associated with myofibrillar myopathies in Polish families

artículo científico publicado en 2014

[TDP-43 proteinopathies - from frontotemporal lobar degeneration to inclusion body myositis]

artículo científico publicado en 2012

Lista de obras de

A novel MAPT mutation, G55R, in a frontotemporal dementia patient leads to altered Tau function

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

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

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

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

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

Common Myelin Regulatory Factor Gene Variants Predisposing to Excellence in Sports

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

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

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

Myosin VI localization and expression in striated muscle pathology.

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

PIN1 gene variants in Alzheimer's disease

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

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

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

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

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

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

Two desmin gene mutations associated with myofibrillar myopathies in Polish families

[TDP-43 proteinopathies - from frontotemporal lobar degeneration to inclusion body myositis]