Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Silvia Beatriz Sanchez-Marco"'
Autor:
Silvia Beatriz Sanchez Marco, Edgar Buhl, Rose Firth, Bangfu Zhu, Mary Gainsborough, Ana Beleza‐Meireles, Sandra Moore, Richard Caswell, Karen Stals, Sian Ellard, Cameron Kennedy, James J. L. Hodge, Anirban Majumdar
Publikováno v:
Clinical Genetics. 102:494-502
Cerebral palsy (CP) causes neurological disability in early childhood. Hypoxic-ischaemic injury plays a major role in its aetiology, nevertheless, genetic and epigenetic factors may contribute to the clinical presentation. Mutations in ADD3 (encoding
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e09c9abdbf9b1a05ea294eec0fbec4c
https://doi.org/10.1111/cge.14220
https://doi.org/10.1111/cge.14220
Autor:
Silvia Beatriz Sanchez-Marco, Germaine Pierre, Peta Sharples, Seth Love, Kathryn Urankar, Tom Hilliard, Peter Lunt, Amanda Churchill, Riyaad Aungraheeta, Anthony Dallosso, Julie Evans, Maggie Williams, Anirban Majumdar
Publikováno v:
Journal of Pediatric Neurology.
We describe the clinical, muscle and nerve biopsy, and genetic findings in a 10-year-old girl with a profound and rapid global regression. She presented during neonatal period with hypotonia, followed by weakness in the facial, bulbar, respiratory, a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::08282681596e95d677f459d7e526c167
https://doi.org/10.1055/s-0042-1749671
https://doi.org/10.1055/s-0042-1749671