I. Stępniak

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Two Novel Pathogenic Variants Confirm RMND1 Causative Role in Perrault Syndrome with Renal Involvement

H. Skarżyński, M. Ołdak, D. Oziębło, 2020, Genes.

Familial 15q11.2 Micro deletions are not Fully Penetrant in Two Cases with Hereditary Spastic Paraplegia and Dysmorphic Features

D. Hoffman-Zacharska, J. Zaremba, A. Sulek, 2014 .

Application of a custom NGS gene panel revealed a high diagnostic utility for molecular testing of hereditary ataxias

A. Klimkowicz-Mrowiec, J. Zaremba, I. Stępniak, 2021, Journal of Applied Genetics.

Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study.

Enrico Amico, Philippe Allain, Mark Mühlau, 2017, The Lancet. Neurology.

Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes

J. Pilch, J. Zaremba, A. Sobańska, 2019, neurogenetics.

Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients

J. Pilch, C. Beetz, M. Rudzińska, 2015, Journal of the Neurological Sciences.

Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes

J. Pilch, J. Zaremba, A. Sobańska, 2019, neurogenetics.

Pathology of mitochondria in MELAS syndrome: an ultrastructural study.

M. Ołdak, E. Lewandowska, A. Pollak, 2017, Polish journal of pathology : official journal of the Polish Society of Pathologists.

Novel neuro-audiological findings and further evidence for TWNK involvement in Perrault syndrome

Dariusz M Plewczynski, R. Płoski, D. Plewczyński, 2017, Journal of Translational Medicine.

Cowden syndrome and the associated Lhermitte-Duclos disease--Case presentation.

T. Trojanowski, J. Zaremba, A. Drelich-Zbroja, 2015, Neurologia i neurochirurgia polska.

Screening for the hereditary spastic paraplaegias SPG4 and SPG3A with the multiplex ligation-dependent probe amplification technique in a large population of affected individuals

J. Zaremba, W. Krysa, M. Rajkiewicz, 2013, Neurological Sciences.

Alterations in transcranial sonography among Huntington’s disease patients with psychiatric symptoms

H. Sienkiewicz-Jarosz, G. Witkowski, I. Stępniak, 2020, Journal of Neural Transmission.

422 Case report pathology of skeletal musCle fibres and small blood vessels in merrf syndrome : an ultrastruCtural study

T. Stępień, I. Stępniak, P. Felczak, 2019 .

Safety and efficacy of pridopidine in patients with Huntington's disease (PRIDE-HD): a phase 2, randomised, placebo-controlled, multicentre, dose-ranging study

R. Reilmann, K. Marder, J. Corey-Bloom, 2019, The Lancet Neurology.

Diagnosing MERRF requires clinical and genetic evidence.

T. Wierzba-Bobrowicz, T. Stępień, I. Stępniak, 2019, Polish journal of pathology : official journal of the Polish Society of Pathologists.

Huntington ’ s Disease and Sleep Related Breathing Disorders

J. Antczak, G. Witkowski, R. Rola, 2015 .