Author

Elżbieta Zdzienicka

Observed names: E Zdzienicka, E Zdziennicka, E. ZDZIENICKA, E. Zdzienicka, ELZBIETA ZDZIENICKA, Elszbieta Zdzienicka, Elzbieta Zdzienicka, Elzbieta Zdziennicka, Zdzienicka E, Zdzienicka, Elszbieta

Institution: Institute of Psychiatry and Neurology

Observed institutions: Poznan University of Medical Sciences, University of Bonn, Inserm, University Hospital Bonn, Institute of Philosophy and Sociology, Hertie Institute for Clinical Brain Research, National Hospital for Neurology and Neurosurgery, Institute of Psychiatry and Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, UCL Queen Square Institute of Neurology, University of Tübingen, Polish Academy of Sciences

OpenAlex ID: A5048469818

CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion

2012 · J.-M. Lee, E.M. Ramos, et al. · Neurology · 383

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

2017 · Davina J Hensman Moss, Antonio F Pardiñas, et al. · The Lancet Neurology · 311

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The natural history of spinocerebellar ataxia type 1, 2, 3, and 6

2011 · H. Jacobi, P. Bauer, et al. · Neurology · 228

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Responsiveness of different rating instruments in spinocerebellar ataxia patients

2010 · T. Schmitz-Hübsch, R. Fimmers, et al. · Neurology · 188

Reliability and validity of the International Cooperative Ataxia Rating Scale: A study in 156 spinocerebellar ataxia patients

2006 · Tanja Schmitz‐Hübsch, Sophie Tezenas du Montcel, et al. · Movement Disorders · 171

SCA Functional Index

2008 · T. Schmitz-Hübsch, P. Giunti, et al. · Neurology · 145

Self‐rated health status in spinocerebellar ataxia—Results from a European multicenter study

2010 · Tanja Schmitz‐Hübsch, Mathieu Coudert, et al. · Movement Disorders · 98

Depression comorbidity in spinocerebellar ataxia

2011 · Tanja Schmitz‐Hübsch, Mathieu Coudert, et al. · Movement Disorders · 91

Spinocerebellar Ataxia Types 1, 2, 3 and 6: the Clinical Spectrum of Ataxia and Morphometric Brainstem and Cerebellar Findings

2011 · Heike Jacobi, Till-Karsten Hauser, et al. · The Cerebellum · 83

Clinical manifestations of intermediate allele carriers in Huntington disease

2016 · Esther Cubo, María A. Ramos-Arroyo, et al. · Neurology · 53

SCA8 Repeat Expansion Coexists with SCA1—Not Only with SCA6

2003 · Anna Sulek, Dorota Hoffman-Zacharska, et al. · The American Journal of Human Genetics · 46

Reduced Cancer Incidence in Huntington’s Disease: Analysis in the Registry Study

2018 · Paul McNulty, Richard Pilcher, et al. · Journal of Huntington s Disease · 35

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

2011 · Anna Sulek, Ewelina Elert, et al. · Neurological Sciences · 30

The occurrence of spinocerebellar ataxias caused by dynamic mutations in Polish patients

2010 · Anna Sułek-Piątkowska, Elżbieta Zdzienicka, et al. · Neurologia i Neurochirurgia Polska · 24

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FOUR CASES OF 9p TRISOMY RESULTING FROM A BALANCED FAMILIAL TRANSLOCATION (9; 15) (q13;q11). CLINICAL PICTURE AND CYTOGENETIC FINDINGS

1974 · J. ZAREMBA, ELZBIETA ZDZIENICKA, et al. · Journal of Intellectual Disability Research · 23

Searching for mutation in the JPH3, ATN1 and TBP genes in Polish patients suspected of Huntington's disease and without mutation in the IT15 gene.

2008 · Anna Sułek-Piatkowska, Wioletta Krysa, et al. · PubMed · 12

Screening for premutation in the FMR1 gene in male patients suspected of spinocerebellar ataxia.

2009 · Marta Rajkiewicz, Anna Sułek-Piatkowska, et al. · PubMed · 10

[Spinocerebellar ataxias type 1 and 2: comparison of clinical, electrophysiological and magnetic resonance evaluation].

2006 · Maria Rakowicz, Elzbieta Zdzienicka, et al. · PubMed · 10

Subtelomeric rearrangements in Polish subjects with intellectual disability and dysmorphic features

2010 · J. Bogdanowicz, B. Pawłowska, et al. · Journal of Applied Genetics · 8

[Hyperactivity and behavioral disorders in Sanfilippo A (mucopolysaccharidosis type IIIA)--case report and review of the literature].

2001 · T Wolańczyk, A Banaszkiewicz, et al. · PubMed · 7

Familial distal monosomy 3p26.3‐pter with trisomy 4q32.2‐qter, presenting with progressive ataxia, intellectual disability, and dysmorphic features

2012 · Elzbieta Petriczko, Agnieszka Biczysko‐Mokosa, et al. · American Journal of Medical Genetics Part A · 6

[A study on the occurrence of the deletion 22q11.2 in patients affected with a psychiatric disease].

2007 · Barbara Pawłowska, Anna Tomankiewicz-Zawadzka, et al. · PubMed · 5

Occurrence of Australia Antigen in Patients With Down's Syndrome in Poland*

1971 · E. ZDZIENICKA, E. KACPERSKA · Journal of Intellectual Disability Research · 4

[Detection of rare mutations in the dystrophin gene].

2009 · Janusz G Zimowski, Mariola Holding, et al. · PubMed · 3

[Clinical and genetic study of juvenile form of Huntington's disease].

2002 · Elzbieta Zdzienicka, Maria Rakowicz, et al. · PubMed · 3

Works count: 51

Citation count: 1,992

H-index: 15

I10-index: 18