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Myotonic dystrophy – a new insight into a well-known disease
by
Lusakowska, Anna
,
Sułek-Piatkowska, Anna
Published in
Neurologia i neurochirurgia polska
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Dystrofia miotoniczna – nowe spojrzenie na znaną chorobę
by
Łusakowska, Anna
,
Sułek-Piątkowska, Anna
Published in
Neurologia i neurochirurgia polska
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The occurrence of spinocerebellar ataxias caused by dynamic mutations in Polish patients
by
Sułek-Piątkowska, Anna
,
Zdzienicka, Elżbieta
,
Rakowicz, Maria
,
Krysa, Wioletta
,
Rajkiewicz, Marta
,
Szirkowiec, Walentyna
,
Zaremba, Jacek
Published in
Neurologia i neurochirurgia polska
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Familial occurrence of FXTAS caused by premutation in the FMR1 gene
by
Koziorowski, Dariusz
,
Rajkiewicz, Marta
,
Sułek-Piątkowska, Anna
,
Zaremba, Jacek
,
Kaca-Oryńska, Małgorzata
,
Mandat, Tomasz
,
Friedman, Andrzej
Published in
Neurologia i neurochirurgia polska
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Familial distal monosomy 3p26.3‐pter with trisomy 4q32.2‐qter, presenting with progressive ataxia, intellectual disability, and dysmorphic features
by
Petriczko, Elzbieta
,
Biczysko‐Mokosa, Agnieszka
,
Bogdanowicz, Joanna
,
Constantinou, Maria
,
Zdziennicka, Elzbieta
,
Horodnicka‐Jozwa, Anita
,
Barg, Ewa
,
Gawlik‐Zawislak, Sylwia
,
Sulek‐Piatkowska, Anna
,
Dawid, Grazyna
,
Walczak, Mieczysław
,
Pesz, Karolina
,
Kedzia, Andrzej
,
Zajaczek, Stanislaw
Published in
American journal of medical genetics. Part A
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Myotonic dystrophy - a new insight into a well-known disease
by
Lusakowska, Anna
,
Sułek-Piatkowska, Anna
Published in
Neurologia i neurochirurgia polska
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Familial occurrence of FXTAS caused by premutation in the FMR1 gene
by
Koziorowski, Dariusz
,
Rajkiewicz, Marta
,
Sułek-Piątkowska, Anna
,
Zaremba, Jacek
,
Kaca-Oryńska, Małgorzata
,
Mandat, Tomasz
,
Friedman, Andrzej
Published in
Neurologia i neurochirurgia polska
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Rodzinne występowanie zespołu FXTAS powodowanego premutacją w genie FMR1
by
Koziorowski, Dariusz
,
Rajkiewicz, Marta
,
Sułek-Piątkowska, Anna
,
Zaremba, Jacek
,
Kaca-Oryńska, Małgorzata
,
Mandat, Tomasz
,
Friedman, Andrzej
Published in
Neurologia i neurochirurgia polska
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EMQN Best Practice Guidelines for molecular genetic testing of SCAs
by
Sequeiros, Jorge
,
Martindale, Joanne
,
Seneca, Sara
Published in
European journal of human genetics : EJHG
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Rapid detection of large expansions in progressive myoclonus epilepsy type 1, myotonic dystrophy type 2 and spinocerebellar ataxia type 8
by
Krysa, Wioletta
,
Rajkiewicz, Marta
,
Sutek, Anna
Published in
Neurologia i neurochirurgia polska
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Familial distal monosomy 3p26.3-pter with trisomy 4q32.2-qter, presenting with progressive ataxia, intellectual disability, and dysmorphic features
by
Petriczko, Elzbieta
,
Biczysko-Mokosa, Agnieszka
,
Bogdanowicz, Joanna
,
Constantinou, Maria
,
Zdziennicka, Elzbieta
,
Horodnicka-Jozwa, Anita
,
Barg, Ewa
,
Gawlik-Zawislak, Sylwia
,
Sulek-Piatkowska, Anna
,
Dawid, Grazyna
,
Walczak, Mieczysław
,
Pesz, Karolina
,
Kedzia, Andrzej
,
Zajaczek, Stanislaw
Published in
American Journal of Medical Genetics Part A
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