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pro vyhledávání: '"Merete Bugge"'
Autor:
Vera M. Kalscheuer, Asli Silahtaroglu, Niels Tommerup, J. Wirth, Zeynep Tümer, B. Sivertsen, Merete Bugge, A. Weber, Jens Michael Hertz, Hans-Hilger Ropers
Publikováno v:
Scopus-Elsevier
ResearcherID
Hertz, J M, Sivertsen, B, Silahtaroglu, A, Bugge, M, Kalscheuer, V, Weber, A, Wirth, J, Ropers, H-H, Tommerup, N & Tümer, Z 2004, ' Early onset, non-progressive, mild cerebellar ataxia co-segregating with a familial balanced translocation t(8;20)(p22;q13) ', Journal of Medical Genetics, vol. 41, no. 3, pp. e25 .
ResearcherID
Hertz, J M, Sivertsen, B, Silahtaroglu, A, Bugge, M, Kalscheuer, V, Weber, A, Wirth, J, Ropers, H-H, Tommerup, N & Tümer, Z 2004, ' Early onset, non-progressive, mild cerebellar ataxia co-segregating with a familial balanced translocation t(8;20)(p22;q13) ', Journal of Medical Genetics, vol. 41, no. 3, pp. e25 .
Hereditary ataxia is a clinically and genetically heterogenous group of disorders. Most are progressive and associated with other neurological abnormalities. Early onset, non-progressive cerebellar ataxia (OMIM #117360) has been described as a domina
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89f85325daf176c219829174b152cc2c
https://europepmc.org/articles/PMC1735697/
https://europepmc.org/articles/PMC1735697/