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Dorota Hoffman-Zacharska

Research Profile

Disorders

Procedures

DNA Mutational Analysis

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Chemicals & Drugs

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Poland

Physiology

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Publications

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Magdalena Bartnik; Ewa Bocian; Katarzyna Derwińska; Anna Gambin; Tomasz Gambin; Monika Gos; Alicja Goszczańska-Ciuchta; Dorota Hoffman-Zacharska; Anetta Jeziorek; Marta Kędzior; Tomasz Mazurczak; Tadeusz Mazurczak; Hanna Mazurkiewicz; Hanna Mierzewska; Ewa Obersztyn; Mariola Rudzka-Dybała; Chad A Shaw; Małgorzata Sobierajewicz; Maciej Sykulski; Elżbieta Szczepanik; Iwona Terczyńska; Barbara Wiśniowiecka-Kowalnik; Zofia Zalewska-Miszkurka; Kamila Ziemkiewicz; Dorota Antczak-Marach; Pawel Stankiewicz
Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders.
Christel Depienne; Oriane Trouillard; Delphine Bouteiller; Isabelle Gourfinkel-An; Karine Poirier; François Rivier; Patrick Berquin; Rima Nabbout; Denys Chaigne; Dominique Steschenko; Agnès Gautier; Dorota Hoffman-Zacharska; Annie Lannuzel; Marilyn Lackmy-Port-Lis; Hélène Maurey; Anne Dusser; Marie Bru; Brigitte Gilbert-Dussardier; Agathe Roubertie; Anna Kaminska; Sandra Whalen; Cyril Mignot; Stéphanie Baulac; Gaëtan Lesca; Alexis Arzimanoglou; Eric LeGuern
Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females.
Jacek Mądry; Dorota Hoffman-Zacharska; Leszek Królicki; Maciej Jakuciński; Andrzej Friedman
PLP1 gene duplication as a cause of the classic form of Pelizaeus-Merzbacher disease - case report.

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All Publications

2012: Magdalena Bartnik; Ewa Bocian; Katarzyna Derwińska; Anna Gambin; Tomasz Gambin; Monika Gos; Alicja Goszczańska-Ciuchta; Dorota Hoffman-Zacharska; Anetta Jeziorek; Marta Kędzior; Tomasz Mazurczak; Tadeusz Mazurczak; Hanna Mazurkiewicz; Hanna Mierzewska; Ewa Obersztyn; Mariola Rudzka-Dybała; Chad A Shaw; Małgorzata Sobierajewicz; Maciej Sykulski; Elżbieta Szczepanik; Iwona Terczyńska; Barbara Wiśniowiecka-Kowalnik; Zofia Zalewska-Miszkurka; Kamila Ziemkiewicz; Dorota Antczak-Marach; Pawel Stankiewicz
Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2012;159B(7):760-71.
2011: Christel Depienne; Oriane Trouillard; Delphine Bouteiller; Isabelle Gourfinkel-An; Karine Poirier; François Rivier; Patrick Berquin; Rima Nabbout; Denys Chaigne; Dominique Steschenko; Agnès Gautier; Dorota Hoffman-Zacharska; Annie Lannuzel; Marilyn Lackmy-Port-Lis; Hélène Maurey; Anne Dusser; Marie Bru; Brigitte Gilbert-Dussardier; Agathe Roubertie; Anna Kaminska; Sandra Whalen; Cyril Mignot; Stéphanie Baulac; Gaëtan Lesca; Alexis Arzimanoglou; Eric LeGuern
Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females.
Human mutation 2011;32(1):E1959-75.
2010: Jacek Mądry; Dorota Hoffman-Zacharska; Leszek Królicki; Maciej Jakuciński; Andrzej Friedman
PLP1 gene duplication as a cause of the classic form of Pelizaeus-Merzbacher disease - case report.
Neurologia i neurochirurgia polska 2010;44(5):511-5.
2010: Dariusz Koziorowski; Dorota Hoffman-Zacharska; Jarosław Sławek; Walentyna Szirkowiec; Piotr Janik; Jerzy Bal; Andrzej Friedman
Low frequency of the PARK2 gene mutations in Polish patients with the early-onset form of Parkinson disease.
Parkinsonism & related disorders 2010;16(2):136-8.
2008: Anna Sułek-Piatkowska; Wioletta Krysa; Elzbieta Zdzienicka; Walentyna Szirkowiec; Dorota Hoffman-Zacharska; Marta Rajkiewicz; Elzbieta Fidziańska; Grazyna Kowalska; Jacek Zaremba
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.
Neurologia i neurochirurgia polska 2008;42(3):203-9.
2006: Katarzyna Wojaczyńska-Stanek; Dariusz Adamek; Elzbieta Marszał; Dorota Hoffman-Zacharska
Huntington disease in a 9-year-old boy: clinical course and neuropathologic examination.
Journal of child neurology 2006;21(12):1068-73.
2006: Silke Metzger; Peter Bauer; Jürgen Tomiuk; Franco Laccone; Stefano Didonato; Cinzia Gellera; Caterina Mariotti; Herwig W Lange; Helga Weirich-Schwaiger; Gregor K Wenning; Klaus Seppi; Béla Melegh; Viktoria Havasi; Laszlo Balikó; Stefan Wieczorek; Jacek Zaremba; Dorota Hoffman-Zacharska; Anna Sulek; A Nazli Basak; Esra Soydan; Jana Zidovska; Vera Kebrdlova; Massimo Pandolfo; Pascale Ribaï; Ludovit Kadasi; Marta Kvasnicova; Bernhard H F Weber; Friedmar Kreuz; Matthias Dose; Manfred Stuhrmann; Olaf Riess
Genetic analysis of candidate genes modifying the age-at-onset in Huntington's disease.
Human genetics 2006;120(2):285-92.
2006: Silke Metzger; Peter Bauer; Juergen Tomiuk; Franco Laccone; Stefano Didonato; Cinzia Gellera; Paola Soliveri; Herwig W Lange; Helga Weirich-Schwaiger; Gregor K Wenning; Béla Melegh; Viktoria Havasi; Lazlo Balikó; Stefan Wieczorek; Larissa Arning; Jacek Zaremba; Anna Sulek; Dorota Hoffman-Zacharska; A Nazli Basak; Nagehan Ersoy; Jana Zidovska; Vera Kebrdlova; Massimo Pandolfo; Pascale Ribaï; Ludovit Kadasi; Marta Kvasnicova; Bernhard H F Weber; Friedmar Kreuz; Matthias Dose; Manfred Stuhrmann; Olaf Riess
The S18Y polymorphism in the UCHL1 gene is a genetic modifier in Huntington's disease.
Neurogenetics 2006;7(1):27-30.
2006: Hanna Wehr; Malgorzata Bednarska-Makaruk; W Łojkowska; Alla Graban; Dorota Hoffman-Zacharska; A Kuczyńska-Zardzewiały; J Mrugała; Maria Rodo; A Bochyńska; A Sułek; Danuta Ryglewicz
Differences in risk factors for dementia with neurodegenerative traits and for vascular dementia.
Dementia and geriatric cognitive disorders 2006;22(1):1-7.
2005: Maria Rakowicz; Elzbieta Zdzienicka; Renata Poniatowska; Elzbieta Waliniowska; Anna Sułek; Teresa Jakubowska; Krystyna Niedzielska; Rafal Rola; Aleksandra Wierzbicka; Dorota Hoffman-Zacharska; Czesław Głazowski; Tomasz Jakubczyk; Maria Niewiadomska; Jacek Zaremba
[Spinocerebellar ataxias type 1 and 2: comparison of clinical, electrophysiological and magnetic resonance evaluation].
Neurologia i neurochirurgia polska 2005;39(4):263-275.
2005: Anna Sułek; Dorota Hoffman-Zacharska; Wioletta Krysa; Walentyna Szirkowiec; Elzbieta Fidziańska; Jacek Zaremba
CAG repeat polymorphism in the androgen receptor (AR) gene of SBMA patients and a control group.
Journal of applied genetics 2005;46(2):237-9.
2004: Anna Sułek; Dorota Hoffman-Zacharska; Malgorzata Bednarska-Makaruk; Walentyna Szirkowiec; Jacek Zaremba
Polymorphism of trinucleotide repeats in non-translated regions of SCA8 and SCA12 genes: allele distribution in a Polish control group.
Journal of applied genetics 2004;45(1):101-5.
2003: Anna Sulek; Dorota Hoffman-Zacharska; Elzbieta Zdzienicka; Jacek Zaremba
SCA8 repeat expansion coexists with SCA1--not only with SCA6.
American journal of human genetics 2003;73(4):972-4.
2002: Elzbieta Zdzienicka; Maria Rakowicz; Hanna Mierzewska; Dorota Hoffman-Zacharska; Teresa Jakubowska; Renata Poniatowska; Anna Sułek; Elzbieta Waliniowska; Urszula Zalewska; Jerzy Kulczycki; Jacek Zaremba
[Clinical and genetic study of juvenile form of Huntington's disease].
Neurologia i neurochirurgia polska 2002;36(2):245-58.
2001: D Milewska; E Piłkowska; Teresa Jakubowska; Maria Rakowicz; Maria Niewiadomska; Krystyna Niedzielska; E Walinowska; Danuta Wochnik-Dyjas; G Rejnowski; Elzbieta Zdzienicka; Hanna Mierzewska; Dorota Hoffman-Zacharska; Jacek Zaremba
[Clinical picture of spinocerebellar ataxia type I (SCA1)].
Neurologia i neurochirurgia polska 2001;35(6):993-1011.
2001: Malgorzata Bednarska-Makaruk; M Bisko; MF Pulawska; Dorota Hoffman-Zacharska; Maria Rodo; M Roszczynko; A Solik-Tomassi; Grazyna Broda; M Polakowska; A Pytlak; Hanna Wehr
Familial defective apolipoprotein B-100 in a group of hypercholesterolaemic patients in Poland. Identification of a new mutation Thr3492Ile in the apolipoprotein B gene.
European journal of human genetics : EJHG 2001;9(11):836-42.
1999: M Bisko; Janusz Zimowski; Dorota Hoffman-Zacharska; I Hausmanowa-Petrusewicz; E Fidziańska; Jacek Zaremba
[Detecting carriers of a deletion in the dystrophin gene in families with a single case of Duchenne/Becker muscular dystrophy].
Neurologia i neurochirurgia polska 1999;33(6):1261-7.
1999: D Milewska; Dorota Hoffman-Zacharska; Jacek Zaremba
[Autosomal dominant spinocerebellar ataxia].
Neurologia i neurochirurgia polska 1999;33(3):633-43.
1999: Dorota Hoffman-Zacharska; Elzbieta Zdzienicka; Hanna Mierzewska; N Habib; Jerzy Kulczycki; Jacek Zaremba
[Juvenile form of Huntington's disease--diagnostic problems].
Medycyna wieku rozwojowego 1999;3(1):123-32.
1997: E Jabłońska-Skwiecińska; Janusz Zimowski; J Kłopocka; M Bisko; Dorota Hoffman-Zacharska; Jacek Zaremba
Erythrocyte glucose-6-phosphate dehydrogenase deficiency in Poland--a study on the 563 and 1311 mutations of the G6PD gene.
European journal of human genetics : EJHG 1997;5(1):22-4.
1991: Marek Gniadkowski; Janusz Fiett; Piotr Borsuk; Dorota Hoffman-Zacharska; P P Stepień; Ewa Bartnik
Structure and evolution of 5S rRNA genes and pseudogenes in the genus Aspergillus.
Journal of molecular evolution 1991;33(2):175-8.