Concepedia

Anna Macias

AM

4

Publications

93

Citations

4

H-Index

2016

Active since

Affiliations

Medical University of Warsaw(Current)

Instytut Biologii Doświadczalnej im. Marcelego Nenckiego

Polish Academy of Sciences

Mossakowski Medical Research Institute, Polish Academy of Sciences

Anna Macias is an author at Medical University of Warsaw.

Publications per year

2016–2021

4

Publications

4

Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients

Jakub Fichna, Anna Macias, Marcin Piechota et al. · Human Genomics · 2018 · 56 citations · Full text

ANO5 mutations in the Polish limb girdle muscular dystrophy patients: Effects on the protein structure

Adam Jarmuła, Anna Łusakowska, Jakub Fichna et al. · Scientific Reports · 2019 · 13 citations · Full text

Abnormal spontaneous activity in primary myopathic disorders

Monika Nojszewska, Elżbieta Szmidt-Sałkowska, Anna Kostera‐Pruszczyk et al. · Muscle & Nerve · 2016 · 12 citations · Full text

Targeted Next-Generation Sequencing Reveals Mutations in Non-coding Regions and Potential Regulatory Sequences of Calpain-3 Gene in Polish Limb–Girdle Muscular Dystrophy Patients

Anna Macias, Jakub Fichna, Małgorzata Topolewska et al. · Frontiers in Neuroscience · 2021 · 12 citations · Full text

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