Anna Sułek (Anna Sulek)

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 11

Top Topics

Muscular Dystrophy

Top Venues

International journal of molecular sciences

Postepy psychiatrii neurologii

Cerebellum (London, England)

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

Publications

Ewelina Elert-Dobkowska, Iwona Stepniak, Wiktoria Radziwonik-Fraczyk, Amir Jahic, Christian Beetz, Anna Sułek
SPAST Intragenic CNVs Lead to Hereditary Spastic Paraplegia via a Haploinsufficiency Mechanism. International journal of molecular sciences 25 (9) (2024)
Dorota Hoffman-Zacharska, Anna Sułek
The New Face of Dynamic Mutation-The CAA [CAG]n CAA CAG Motif as a Mutable Unit in the TBP Gene Causative for Spino-Cerebellar Ataxia Type 17. International journal of molecular sciences 25 (15) (2024)
Wiktoria Radziwonik-Frączyk, Ewelina Elert-Dobkowska, Jolanta Kubalska, Iwona Stępniak, Marta Lipowska, Anna Potulska-Chromik, Anna Sułek
Co-occurrence of CAPN3 homozygous mutation and CCTG expansion in the CNBP gene in a patient with muscular dystrophy. Postepy psychiatrii neurologii 33 (2) (2024)
Ewelina Elert-Dobkowska, Iwona Stepniak, Wiktoria Radziwonik-Fraczyk, Amir Jahic, Christian Beetz, Anna Sułek
SPAST Intragenic CNVs Lead to Hereditary Spastic Paraplegia via a Haploinsufficiency Mechanism. International journal of molecular sciences 25 (9) (2024)
Dorota Hoffman-Zacharska, Anna Sułek
The New Face of Dynamic Mutation-The CAA [CAG]n CAA CAG Motif as a Mutable Unit in the TBP Gene Causative for Spino-Cerebellar Ataxia Type 17. International journal of molecular sciences 25 (15) (2024)
Dorota Hoffman-Zacharska, Anna Sułek
The New Face of Dynamic Mutation-The CAA [CAG]n CAA CAG Motif as a Mutable Unit in the TBP Gene Causative for Spino-Cerebellar Ataxia Type 17. International journal of molecular sciences 25 (15) (2024)
Wiktoria Radziwonik-Frączyk, Ewelina Elert-Dobkowska, Jolanta Kubalska, Iwona Stępniak, Marta Lipowska, Anna Potulska-Chromik, Anna Sułek
Co-occurrence of CAPN3 homozygous mutation and CCTG expansion in the CNBP gene in a patient with muscular dystrophy. Postepy psychiatrii neurologii 33 (2) (2024)
Anna Sobańska, Leszek Czerwosz, Anna Sułek, Rafal Rola, Iwona Stępniak, Maria Rakowicz
Quantitative Evaluation of Stance as a Sensitive Biomarker of Postural Ataxia Development in Preclinical SCA1 Mutation Carriers. Cerebellum (London, England) (2024)
Ewelina Elert-Dobkowska, Iwona Stepniak, Wiktoria Radziwonik-Fraczyk, Amir Jahic, Christian Beetz, Anna Sułek
SPAST Intragenic CNVs Lead to Hereditary Spastic Paraplegia via a Haploinsufficiency Mechanism. International journal of molecular sciences 25 (9) (2024)
Wiktoria Radziwonik, Ewelina Elert-Dobkowska, Filip Tomczuk, Aleksandra Wozniak, Anna Sobanska, Iwona Stepniak, Dariusz Koziorowski, Jacek Zaremba, Anna Sułek
C9orf72 hexanucleotide repeat expansion found in suspected spinobulbar muscular atrophy (SBMA). Neurologia i neurochirurgia polska 56 (3) (2022)
Ewelina Elert-Dobkowska, Iwona Stepniak, Wioletta Krysa, Karolina Ziora-Jakutowicz, Maria Rakowicz, Anna Sobanska, Jacek Pilch, Dorota Antczak-Marach, Jacek Zaremba, Anna Sułek
Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes. Neurogenetics 20 (1) (2019)