Aleksandra Jezela-Stanek (A Jezela-Stanek)

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 43

Top Topics

Replacement Therapy

Duchenne Muscular Dystrophy

Interstitial Lung Disease

Intellectual Disability

Top Venues

Journal of clinical medicine

Diagnostics (Basel, Switzerland)

This page only lists publications with an associated author ORCID identifier.

Publications

Jakub Mróz, Magdalena Pelc, Karolina Mitusińska, Joanna Chorostowska-Wynimko, Aleksandra Jezela-Stanek
Computational Tools to Assist in Analyzing Effects of the SERPINA1 Gene Variation on Alpha-1 Antitrypsin (AAT). Genes 15 (3) (2024)
Dorota Wesół-Kucharska, Milena Greczan, Magdalena Kaczor, Ewa Ehmke Vel Emczyńska, Małgorzata Hajdacka, Edyta Czekuć-Kryśkiewicz, Dorota Piekutowska-Abramczuk, Paulina Halat-Wolska, Elżbieta Ciara, Maciej Jaworski, Aleksandra Jezela-Stanek, Dariusz Rokicki
Efficacy and Safety of Ketogenic Diet Treatment in Pediatric Patients with Mitochondrial Disease. Nutrients 16 (6) (2024)
Jakub Mróz, Magdalena Pelc, Karolina Mitusińska, Joanna Chorostowska-Wynimko, Aleksandra Jezela-Stanek
Computational Tools to Assist in Analyzing Effects of the SERPINA1 Gene Variation on Alpha-1 Antitrypsin (AAT). Genes 15 (3) (2024)
Jakub Mróz, Magdalena Pelc, Karolina Mitusińska, Joanna Chorostowska-Wynimko, Aleksandra Jezela-Stanek
Computational Tools to Assist in Analyzing Effects of the SERPINA1 Gene Variation on Alpha-1 Antitrypsin (AAT). Genes 15 (3) (2024)
Dorota Wesół-Kucharska, Milena Greczan, Magdalena Kaczor, Ewa Ehmke Vel Emczyńska, Małgorzata Hajdacka, Edyta Czekuć-Kryśkiewicz, Dorota Piekutowska-Abramczuk, Paulina Halat-Wolska, Elżbieta Ciara, Maciej Jaworski, Aleksandra Jezela-Stanek, Dariusz Rokicki
Efficacy and Safety of Ketogenic Diet Treatment in Pediatric Patients with Mitochondrial Disease. Nutrients 16 (6) (2024)
Dorota Wesół-Kucharska, Milena Greczan, Magdalena Kaczor, Ewa Ehmke Vel Emczyńska, Małgorzata Hajdacka, Edyta Czekuć-Kryśkiewicz, Dorota Piekutowska-Abramczuk, Paulina Halat-Wolska, Elżbieta Ciara, Maciej Jaworski, Aleksandra Jezela-Stanek, Dariusz Rokicki
Efficacy and Safety of Ketogenic Diet Treatment in Pediatric Patients with Mitochondrial Disease. Nutrients 16 (6) (2024)
Jakub Mróz, Magdalena Pelc, Karolina Mitusińska, Joanna Chorostowska-Wynimko, Aleksandra Jezela-Stanek
Computational Tools to Assist in Analyzing Effects of the SERPINA1 Gene Variation on Alpha-1 Antitrypsin (AAT). Genes 15 (3) (2024)
Michał Hutny, Patryk Lipiński, Aleksandra Jezela-Stanek
Characteristics of Neuroimaging and Behavioural Phenotype in Polish Patients with PIGV-CDG-An Observational Study and Literature Review. Genes 14 (6) (2023)
Aleksandra Jezela-Stanek, Joanna Chorostowska-Wynimko
SERPINA1 and More? A Putative Genetic Contributor to Pulmonary Dysfunction in Alpha-1 Antitrypsin Deficiency. Journal of clinical medicine 12 (5) (2023)
Michał Hutny, Patryk Lipiński, Aleksandra Jezela-Stanek
Characteristics of Neuroimaging and Behavioural Phenotype in Polish Patients with PIGV-CDG-An Observational Study and Literature Review. Genes 14 (6) (2023)
Justyna Paprocka, Aleksandra Jezela-Stanek, Smigiel Robert, Anna Walczak, Hanna Mierzewska, Anna Kutkowska-Kaźmierczak, Ploski Rafal, Ewa Emich-Widera, Barbara Steinborn
Expanding the Knowledge of KIF1A-Dependent Disorders to a Group of Polish Patients. Genes 14 (5) (2023)
Aleksandra Jezela-Stanek, Joanna Chorostowska-Wynimko
SERPINA1 and More? A Putative Genetic Contributor to Pulmonary Dysfunction in Alpha-1 Antitrypsin Deficiency. Journal of clinical medicine 12 (5) (2023)
Udara Dilrukshi Senarathne, Neluwa-Liyanage Ruwan Indika, Aleksandra Jezela-Stanek, Elżbieta Ciara, Richard E Frye, Cliff Chen, Karolina M Stępień
Biochemical, Genetic and Clinical Diagnostic Approaches to Autism-Associated Inherited Metabolic Disorders. Genes 14 (4) (2023)
Udara Dilrukshi Senarathne, Neluwa-Liyanage Ruwan Indika, Aleksandra Jezela-Stanek, Elżbieta Ciara, Richard E Frye, Cliff Chen, Karolina M Stępień
Biochemical, Genetic and Clinical Diagnostic Approaches to Autism-Associated Inherited Metabolic Disorders. Genes 14 (4) (2023)
Michał Hutny, Patryk Lipiński, Aleksandra Jezela-Stanek
Characteristics of Neuroimaging and Behavioural Phenotype in Polish Patients with PIGV-CDG-An Observational Study and Literature Review. Genes 14 (6) (2023)
Udara Dilrukshi Senarathne, Neluwa-Liyanage Ruwan Indika, Aleksandra Jezela-Stanek, Elżbieta Ciara, Richard E Frye, Cliff Chen, Karolina M Stępień
Biochemical, Genetic and Clinical Diagnostic Approaches to Autism-Associated Inherited Metabolic Disorders. Genes 14 (4) (2023)
Udara Dilrukshi Senarathne, Neluwa-Liyanage Ruwan Indika, Aleksandra Jezela-Stanek, Elżbieta Ciara, Richard E Frye, Cliff Chen, Karolina M Stępień
Biochemical, Genetic and Clinical Diagnostic Approaches to Autism-Associated Inherited Metabolic Disorders. Genes 14 (4) (2023)
Katarzyna Wertheim-Tysarowska, Katarzyna Osipowicz, Bartłomiej Gielniewski, Bartosz Wojtaś, Alicja Szabelska-Beręsewicz, Joanna Zyprych-Walczak, Adriana Mika, Andrzej Tysarowski, Katarzyna Duk, Agnieszka Magdalena Rygiel, Katarzyna Niepokój, Katarzyna Woźniak, Cezary Kowalewski, Jolanta Wierzba, Aleksandra Jezela-Stanek
The Epidermal Transcriptome Analysis of a Novel c.639_642dup LORICRIN Variant-Delineation of the Loricrin Keratoderma Pathology. International journal of molecular sciences 24 (11) (2023)
Michał Hutny, Patryk Lipiński, Aleksandra Jezela-Stanek
Characteristics of Neuroimaging and Behavioural Phenotype in Polish Patients with PIGV-CDG-An Observational Study and Literature Review. Genes 14 (6) (2023)
Karolina Mitusińska, Artur Góra, Anna Bogdańska, Agnieszka Różdżyńska-Świątkowska, Anna Tylki-Szymańska, Aleksandra Jezela-Stanek
Structural Analysis of the Effect of Asn107Ser Mutation on Alg13 Activity and Alg13-Alg14 Complex Formation and Expanding the Phenotypic Variability of ALG13-CDG. Biomolecules 12 (3) (2022)
Aleksandra Jezela-Stanek, Lidia Suchoń, Agnieszka Sobczyńska-Tomaszewska, Kamila Czerska, Katarzyna Kuśmierska, Joanna Taybert, Mariusz Ołtarzewski, Jolanta Sykut-Cegielska
Molecular Background and Disease Prevalence of Biotinidase Deficiency in a Polish Population-Data Based on the National Newborn Screening Programme. Genes 13 (5) (2022)
Carolina Alvarez, Guillem de Valles-Ibáñez, Manuela Pendziwiat, Alexej Knaus, Kerstin Alt, Elisa Biamino, Annette Bley, Sophie Calvert, Patrick Carney, Alfonso Caro-Llopis, Berten Ceulemans, Janice Cousin, Suzanne Davis, Vincent des Portes, Patrick Edery, Eleina England, Carlos Ferreira, Jeremy Freeman, Blanca Gener, Magali Gorce, Delphine Heron, Michael S Hildebrand, Aleksandra Jezela-Stanek, Pierre-Simon Jouk, Boris Keren, Katja Kloth, Gerhard Kluger, Marius Kuhn, Johannes R Lemke, Hong Li, Francisco Martinez, Caroline Maxton, Heather C Mefford, Giuseppe Merla, Hanna Mierzewska, Alison Muir, Sandra Monfort, Joost Nicolai, Jennifer Norman, Gina O'Grady, Barbara Oleksy, Carmen Orellana, Laura Elena Orec, Charlotte Peinhardt, Ewa Pronicka, Monica Rosello, Fernando Santos-Simarro, Eva Maria Christina Schwaibold, Alexander P A Stegmann, Constance T Stumpel, Elzbieta Szczepanik, Iwona Terczyńska, Julien Thevenon, Andreas Tzschach, Patrick Van Bogaert, Roberta Vittorini, Sonja Walsh, Sarah Weckhuysen, Barbara Weissman, Lynne Wolfe, Alexandre Reymond, Pasquelena De Nittis, Annapurna H Poduri, Heather E Olson, Pasquale Striano, Gaëtan Lesca, Ingrid E Scheffer, Rikke Steensjerre Moller, Lynette Grant Sadleir
PIGN encephalopathy: Characterizing the epileptology. Epilepsia 63 (4) (2022)
Aleksandra Jezela-Stanek, Anna Siejka, Ewa M Kowalska, Violetta Hosiawa, Malgorzata Krajewska-Walasek
GC-MS as a tool for reliable non-invasive prenatal diagnosis of Smith-Lemli-Opitz syndrome but essential also for other cholesterolopathies verification. Ginekologia polska 91 (5) (2021)
Aleksandra Jezela-Stanek, Anna Bauer, Katarzyna Wertheim-Tysarowska, Jerzy Bal, Agnieszka Magdalena Rygiel, Jolanta Sykut-Cegielska
The genetic basis of classical galactosaemia in Polish patients. Orphanet journal of rare diseases 16 (1) (2021)
Aleksandra Jezela-Stanek, Elżbieta Szczepanik, Hanna Mierzewska, Małgorzata Rydzanicz, Karolina Rutkowska, Alexej Knaus, Robert Śmigiel, Iwona Stępniak, Michał G Markiewicz, Snir Boniel, Peter Krawitz, Ploski Rafal
Evidence of the milder phenotypic spectrum of c.1582G>A PIGT variant: Delineation based on seven novel Polish patients. Clinical genetics 98 (5) (2021)
Patryk Lipiński, Karolina M Stępień, Elżbieta Ciara, Anna Tylki-Szymańska, Aleksandra Jezela-Stanek
Skeletal and Bone Mineral Density Features, Genetic Profile in Congenital Disorders of Glycosylation: Review. Diagnostics (Basel, Switzerland) 11 (8) (2021)
Justyna Paprocka, Aleksandra Jezela-Stanek, Łukasz Boguszewicz, Maria Sokół, Patryk Lipiński, Ewa Jamroz, Ewa Emich-Widera, Anna Tylki-Szymańska
The First Metabolome Analysis in Children with Epilepsy and ALG13-CDG Resulting from c.320A>G Variant. Children (Basel, Switzerland) 8 (3) (2021)
Dorota Wesół-Kucharska, Dariusz Rokicki, Aleksandra Jezela-Stanek
Epilepsy in Mitochondrial Diseases-Current State of Knowledge on Aetiology and Treatment. Children (Basel, Switzerland) 8 (7) (2021)
A Różdżyńska-Świątkowska, E Ciara, P Halat-Wolska, M Krajewska-Walasek, Aleksandra Jezela-Stanek
Anthropometric characteristics of 65 Polish Smith-Lemli-Opitz patients. Journal of applied genetics 62 (3) (2021)
Justyna Paprocka, Aleksandra Jezela-Stanek, Anna Tylki-Szymańska, Stephanie Grunewald
Congenital Disorders of Glycosylation from a Neurological Perspective. Brain sciences 11 (1) (2021)
Aleksandra Jezela-Stanek, Grazina Kleinotiene, Karolina Chwialkowska, Anna Tylki-Szymańska
Do Not Miss the (Genetic) Diagnosis of Gaucher Syndrome: A Narrative Review on Diagnostic Clues and Management in Severe Prenatal and Perinatal-Lethal Sporadic Cases. Journal of clinical medicine 10 (21) (2021)
Aleksandra Jezela-Stanek, Elżbieta Ciara, Karolina M Stępień
Neuropathophysiology, Genetic Profile, and Clinical Manifestation of Mucolipidosis IV-A Review and Case Series. International journal of molecular sciences 21 (12) (2020)
Urszula Lechowicz, Stefan Rudzinski, Aleksandra Jezela-Stanek, Sabina Janciauskiene, Joanna Chorostowska-Wynimko
Post-Translational Modifications of Circulating Alpha-1-Antitrypsin Protein. International journal of molecular sciences 21 (23) (2020)
Aleksandra Jezela-Stanek, Witold Blaz, Artur Góra, Malgorzata Bochenska, Katarzyna Kusmierska, Jolanta Sykut-Cegielska
Proteins Structure Models in the Evaluation of Novel Variant (C.472_477del) in the MOCS2 Gene. Diagnostics (Basel, Switzerland) 10 (10) (2020)
Aleksandra Jezela-Stanek, Joanna Chorostowska-Wynimko, Anna Tylki-Szymańska
Pulmonary involvement in selected lysosomal storage diseases and the impact of enzyme replacement therapy: A state-of-the art review. The clinical respiratory journal 14 (5) (2020)
Karolina M Stępień, Elżbieta Ciara, Aleksandra Jezela-Stanek
Fucosidosis-Clinical Manifestation, Long-Term Outcomes, and Genetic Profile-Review and Case Series. Genes 11 (11) (2020)
Przemyslaw Kosinski, Pawel Krajewski, Miroslaw Wielgos, Aleksandra Jezela-Stanek
Nonimmune Hydrops Fetalis-Prenatal Diagnosis, Genetic Investigation, Outcomes and Literature Review. Journal of clinical medicine 9 (6) (2020)
Hanna Mierzewska, Aleksandra Jezela-Stanek
Is leucodystrophy really a feature of PIGT-CDG? Neuropathology and applied neurobiology 46 (6) (2020)
Aleksandra Jezela-Stanek, Przemyslaw Kosinski
Genetics of fetal growth restriction-Isolated is not syndromic: Comments on the paper entitled "Genetic syndromes associated with isolated fetal growth restriction" published in Prenatal Diagnosis, DOI: 10.1002/pd.5635. Prenatal diagnosis 41 (1) (2020)
Aleksandra Jezela-Stanek
Interstitial Lung Disease in Rare Congenital Syndromes. Journal of mother and child 24 (1) (2020)
Edyta Szymańska, Aleksandra Jezela-Stanek, Anna Bogdańska, Dariusz Rokicki, Ewa Ehmke Vel Emczyńska-Seliga, Magdalena Pajdowska, Elżbieta Ciara, Anna Tylki-Szymańska
Long Term Follow-Up of Polish Patients with Isovaleric Aciduria. Clinical and Molecular Delineation of Isovaleric Aciduria. Diagnostics (Basel, Switzerland) 10 (10) (2020)
Justyna Paprocka, Aleksandra Jezela-Stanek, Agniesz Koppolu, Małgorzata Rydzanicz, Joanna Kosińska, Piotr Stawiński, Ploski Rafal
FGF12p.Gly112Ser variant as a cause of phenytoin/phenobarbital responsive epilepsy. Clinical genetics 96 (3) (2019)
Aleksandra Jezela-Stanek, Anna Walczak, Michał Łaźniewski, Joanna Kosińska, Piotr Stawiński, Victor Murcia Pienkowski, Anna Biernacka, Małgorzata Rydzanicz, Grażyna Kostrzewa, Paweł Krajewski, Dariusz Plewczyński, Ploski Rafal
Novel COL12A1 variant as a cause of mild familial extracellular matrix-related myopathy. Clinical genetics 95 (6) (2019)