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Models for IGHMBP2-associated diseases: an overview and a roadmap for the future

Neuromuscular disorders : NMD, 2021-12, Vol.31 (12), p.1266-1278

2021

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Validation of the Pathogenic Effect of IGHMBP2 Gene Mutations Based on Yeast S. cerevisiae Model

International journal of molecular sciences, 2022-09, Vol.23 (17), p.9913

2022

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The molecular mechanisms that underlie IGHMBP2‐related diseases

Neuropathology and applied neurobiology, 2024-08, Vol.50 (4), p.e13005-n/a

2024

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A role for the GDAP1 gene in the molecular pathogenesis of Charcot‑Marie‑Tooth disease

Acta neurobiologiae experimentalis, 2018, Vol.78 (1), p.1-13

2018

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Application of the Numerical Model to Design the Geometry of a Unit Tool in the Innovative RTH Hydroforming Technology

Materials, 2020-11, Vol.13 (23), p.5427

2020

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Data-driven advisory system for industrial manufacturing. Application to the aluminum extrusion process

Knowledge-based systems, 2024-06, Vol.294, p.111631, Article 111631

2024

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Analysis of the Innovative Channel Strut Concept Manufactured by Roll-Forming

Materials, 2022-01, Vol.15 (3), p.1107

2022

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A Yeast-Based Model for Hereditary Motor and Sensory Neuropathies: A Simple System for Complex, Heterogeneous Diseases

International journal of molecular sciences, 2020-06, Vol.21 (12), p.4277

2020

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Soft Modeling in Industrial Manufacturing

1st ed. 2019., 2019

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Mutations in GDAP1 Influence Structure and Function of the Trans-Golgi Network

International journal of molecular sciences, 2021-01, Vol.22 (2), p.914

2021

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Pathogenic Effect of GDAP1 Gene Mutations in a Yeast Model

Genes, 2020-03, Vol.11 (3), p.310

2020

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The GDAP1 p.Glu222Lys Variant-Weak Pathogenic Effect, Cumulative Effect of Weak Sequence Variants, or Synergy of Both Factors?

Genes, 2022-08, Vol.13 (9), p.1546

2022

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Emery-Dreifuss muscular dystrophy: the most recognizable laminopathy

Folia neuropathologica, 2016-01, Vol.54 (1), p.1-8

2016

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Rapid Tube Hydroforming - The Innovative Casting-Forming Method for Rapid Prototyping

Manufacturing Technology, 2020-08, Vol.20 (2), p.195-199

2020

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Professor Irena Hausmanowa-Petrusewicz (1917–2015) – distinguished neurologist, teacher and scientist

Neurophysiologie clinique, 2016-06, Vol.46 (3), p.235-236

2016

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The impact of Professor Irena Hausmanowa-Petrusewicz studies on the development of genetics of neuromuscular disorders

Family medicine & primary care review, 2015-12, Vol.4 (4), p.319-322

Kochański, Andrzej

2015

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Molecular modelling of mitofusin 2 for a prediction for Charcot-Marie-Tooth 2A clinical severity

Scientific reports, 2018-11, Vol.8 (1), p.16900-11, Article 16900

2018

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Sekwencjonowanie genomu/eksomu człowieka – aspekt bioetyczny

Studia ecologiae et bioethicae, 2014-03, Vol.12 (1), p.29-38

Kochański, Andrzej

2014

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Charcot‑Marie‑Tooth type 1A drug therapies: role of adenylyl cyclase activity and G‑protein coupled receptors in disease pathomechanism

Acta neurobiologiae experimentalis, 2018-01, Vol.78 (3), p.198-209

2018

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A novel TPM2 gene splice-site mutation causes severe congenital myopathy with arthrogryposis and dysmorphic features

Journal of applied genetics, 2017-05, Vol.58 (2), p.199-203

2017

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Molecular pathogenesis, experimental therapy and genetic counseling in hereditary sensory neuropathies

Acta neurobiologiae experimentalis, 2015-01, Vol.75 (2), p.126-143

2015

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A novel de novo COL6A1 mutation emphasizes the role of intron 14 donor splice site defects as a cause of moderate-progressive form of ColVI myopathy - a case report and review of the genotype-phenotype correlation

Folia neuropathologica, 2017-01, Vol.55 (3), p.214-220

2017

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Pathogenic mutations and sequence variants within mitofusin 2 gene in Polish patients with different hereditary motor-sensory neuropathies

Acta neurobiologiae experimentalis, 2015-01, Vol.75 (3), p.264-278

2015

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A severe recessive and a mild dominant form of Charcot-Marie-Tooth disease associated with a newly identified Glu222Lys GDAP1 gene mutation

Acta biochimica Polonica, 2014-01, Vol.61 (4), p.739

2014

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Recommendations on the diagnosis of male infertility — genetic testing [Rekomendacje dotyczące diagnostyki genetycznej w niepłodności męskiej]

Endokrynologia polska, 2020-01, Vol.71 (6), p.561-572

2020

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Models for IGHMBP2-associated diseases: an overview and a roadmap for the future

Validation of the Pathogenic Effect of IGHMBP2 Gene Mutations Based on Yeast S. cerevisiae Model

The molecular mechanisms that underlie IGHMBP2‐related diseases

A role for the GDAP1 gene in the molecular pathogenesis of Charcot‑Marie‑Tooth disease

Application of the Numerical Model to Design the Geometry of a Unit Tool in the Innovative RTH Hydroforming Technology

Data-driven advisory system for industrial manufacturing. Application to the aluminum extrusion process

Analysis of the Innovative Channel Strut Concept Manufactured by Roll-Forming

A Yeast-Based Model for Hereditary Motor and Sensory Neuropathies: A Simple System for Complex, Heterogeneous Diseases

Soft Modeling in Industrial Manufacturing

Mutations in GDAP1 Influence Structure and Function of the Trans-Golgi Network

Pathogenic Effect of GDAP1 Gene Mutations in a Yeast Model

The GDAP1 p.Glu222Lys Variant-Weak Pathogenic Effect, Cumulative Effect of Weak Sequence Variants, or Synergy of Both Factors?

Emery-Dreifuss muscular dystrophy: the most recognizable laminopathy

Rapid Tube Hydroforming - The Innovative Casting-Forming Method for Rapid Prototyping

Professor Irena Hausmanowa-Petrusewicz (1917–2015) – distinguished neurologist, teacher and scientist

The impact of Professor Irena Hausmanowa-Petrusewicz studies on the development of genetics of neuromuscular disorders

Molecular modelling of mitofusin 2 for a prediction for Charcot-Marie-Tooth 2A clinical severity

Sekwencjonowanie genomu/eksomu człowieka – aspekt bioetyczny

Charcot‑Marie‑Tooth type 1A drug therapies: role of adenylyl cyclase activity and G‑protein coupled receptors in disease pathomechanism

A novel TPM2 gene splice-site mutation causes severe congenital myopathy with arthrogryposis and dysmorphic features

Molecular pathogenesis, experimental therapy and genetic counseling in hereditary sensory neuropathies

A novel de novo COL6A1 mutation emphasizes the role of intron 14 donor splice site defects as a cause of moderate-progressive form of ColVI myopathy - a case report and review of the genotype-phenotype correlation

Pathogenic mutations and sequence variants within mitofusin 2 gene in Polish patients with different hereditary motor-sensory neuropathies

A severe recessive and a mild dominant form of Charcot-Marie-Tooth disease associated with a newly identified Glu222Lys GDAP1 gene mutation

Recommendations on the diagnosis of male infertility — genetic testing [Rekomendacje dotyczące diagnostyki genetycznej w niepłodności męskiej]

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