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Neuromuscular and Neuromuscular Junction Manifestations of the PURA-NDD: A Systematic Review of the Reported Symptoms and Potential Treatment Options

International journal of molecular sciences, 2023-01, Vol.24 (3), p.2260

2023

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Genetic modifiers and phenotypic variability in neuromuscular disorders

Journal of applied genetics, 2020-12, Vol.61 (4), p.547-558

2020

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Comment on: "Somatic CAG repeat instability in intermediate alleles of the HTT gene and its potential association with a clinical phenotype" by Ruiz de Sabando et al

European journal of human genetics : EJHG, 2024-07, Vol.32 (7), p.745-746

Mroczek, Magdalena

2024

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WGS Data Collections: How Do Genomic Databases Transform Medicine?

International journal of molecular sciences, 2023-02, Vol.24 (3), p.3031

2023

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Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

Genetics in medicine, 2020-09, Vol.22 (9), p.1478-1488

2020

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Microglia heterogeneity and neurodegeneration: The emerging paradigm of the role of immunity in Alzheimer's disease

Journal of neuroimmunology, 2020-04, Vol.341, p.577185-577185, Article 577185

2020

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New hopes for the breast cancer treatment: perspectives on the oncolytic virus therapy

Frontiers in immunology, 2024-03, Vol.15, p.1375433-1375433

2024

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Early short-term PXT3003 combinational therapy delays disease onset in a transgenic rat model of Charcot-Marie-Tooth disease 1A (CMT1A)

PloS one, 2019-01, Vol.14 (1), p.e0209752-e0209752

2019

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Better safe than sorry-Whole-genome sequencing indicates that missense variants are significant in susceptibility to COVID-19

PloS one, 2023-01, Vol.18 (1), p.e0279356-e0279356

2023

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The Spectrum of the Heterozygous Effect in Biallelic Mendelian Diseases—The Symptomatic Heterozygote Issue

Genes, 2023-07, Vol.14 (8), p.1562

2023

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Influence of Selenium on Root Growth and Oxidative Stress Induced by Lead in Vicia faba L. minor Plants

Biological trace element research, 2012-06, Vol.147 (1-3), p.320-328

2012

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Neuropsychiatric Symptoms and Their Association With Sex, Age, and Enzyme Replacement Therapy in Fabry Disease: A Systematic Review

Frontiers in psychiatry, 2022-03, Vol.13, p.829128-829128

2022

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Population WGS-based spinal muscular atrophy carrier screening in a cohort of 1076 healthy Polish individuals

Journal of applied genetics, 2023-02, Vol.64 (1), p.135-139

2023

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The Thousand Polish Genomes-A Database of Polish Variant Allele Frequencies

International journal of molecular sciences, 2022-04, Vol.23 (9), p.4532

2022

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Beyond GWAS-Could Genetic Differentiation within the Allograft Rejection Pathway Shape Natural Immunity to COVID-19?

International journal of molecular sciences, 2022-06, Vol.23 (11), p.6272

2022

Volltextzugriff (PDF)

Cerebrospinal Fluid Proteome Alterations Associated with Neuropsychiatric Symptoms in Cognitive Decline and Alzheimer's Disease

Cells (Basel, Switzerland), 2022-03, Vol.11 (6), p.1030

2022

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Effects of sleep deprivation on cortical excitability: A threshold-tracking TMS study and review of the literature

Clinical neurophysiology practice, 2024, Vol.9, p.13-20

2024

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Four Individuals with a Homozygous Mutation in Exon 1f of the PLEC Gene and Associated Myasthenic Features

Genes, 2020-06, Vol.11 (7), p.716

2020

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Expanding the disease phenotype of ADSSL1-associated myopathy in non-Korean patients

Neuromuscular disorders : NMD, 2020-04, Vol.30 (4), p.310-314

2020

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Genetics, Genomics and Emerging Molecular Therapies of Pancreatic Cancer

Cancers, 2023-01, Vol.15 (3), p.779

2023

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Gene Variants Related to Cardiovascular and Pulmonary Diseases May Correlate with Severe Outcome of COVID-19

International journal of molecular sciences, 2022-08, Vol.23 (15), p.8696

2022

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The cancer-risk variant frequency among Polish population reported by the first national whole-genome sequencing study

Frontiers in oncology, 2023-02, Vol.13, p.1045817-1045817

2023

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Pain in childbirth and postpartum recovery – The role of catastrophizing

European journal of pain, 2009-03, Vol.13 (3), p.312-316

2009

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Imaging Transcriptomics in Neurodegenerative Diseases

Journal of neuroimaging, 2021-03, Vol.31 (2), p.244-250

2021

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N°289 – No effects of sleep deprivation on brain excitability in a threshold tracking TMS study

Clinical neurophysiology, 2023-06, Vol.150, p.e163-e163

2023

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Neuromuscular and Neuromuscular Junction Manifestations of the PURA-NDD: A Systematic Review of the Reported Symptoms and Potential Treatment Options

Genetic modifiers and phenotypic variability in neuromuscular disorders

Comment on: "Somatic CAG repeat instability in intermediate alleles of the HTT gene and its potential association with a clinical phenotype" by Ruiz de Sabando et al

WGS Data Collections: How Do Genomic Databases Transform Medicine?

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

Microglia heterogeneity and neurodegeneration: The emerging paradigm of the role of immunity in Alzheimer's disease

New hopes for the breast cancer treatment: perspectives on the oncolytic virus therapy

Early short-term PXT3003 combinational therapy delays disease onset in a transgenic rat model of Charcot-Marie-Tooth disease 1A (CMT1A)

Better safe than sorry-Whole-genome sequencing indicates that missense variants are significant in susceptibility to COVID-19

The Spectrum of the Heterozygous Effect in Biallelic Mendelian Diseases—The Symptomatic Heterozygote Issue

Influence of Selenium on Root Growth and Oxidative Stress Induced by Lead in Vicia faba L. minor Plants

Neuropsychiatric Symptoms and Their Association With Sex, Age, and Enzyme Replacement Therapy in Fabry Disease: A Systematic Review

Population WGS-based spinal muscular atrophy carrier screening in a cohort of 1076 healthy Polish individuals

The Thousand Polish Genomes-A Database of Polish Variant Allele Frequencies

Beyond GWAS-Could Genetic Differentiation within the Allograft Rejection Pathway Shape Natural Immunity to COVID-19?

Cerebrospinal Fluid Proteome Alterations Associated with Neuropsychiatric Symptoms in Cognitive Decline and Alzheimer's Disease

Effects of sleep deprivation on cortical excitability: A threshold-tracking TMS study and review of the literature

Four Individuals with a Homozygous Mutation in Exon 1f of the PLEC Gene and Associated Myasthenic Features

Expanding the disease phenotype of ADSSL1-associated myopathy in non-Korean patients

Genetics, Genomics and Emerging Molecular Therapies of Pancreatic Cancer

Gene Variants Related to Cardiovascular and Pulmonary Diseases May Correlate with Severe Outcome of COVID-19

The cancer-risk variant frequency among Polish population reported by the first national whole-genome sequencing study

Pain in childbirth and postpartum recovery – The role of catastrophizing

Imaging Transcriptomics in Neurodegenerative Diseases

N°289 – No effects of sleep deprivation on brain excitability in a threshold tracking TMS study

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