Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Annita Ormiston"'
Autor:
Yiolanda-Panayiota Christou, George A. Tanteles, Elena Kkolou, Annita Ormiston, Kostas Konstantopoulos, Maria Beconi, Randall D. Marshall, Horacio Plotkin, Kleopas A. Kleopa
Publikováno v:
Case Reports in Neurological Medicine, Vol 2017 (2017)
Objective. Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive disorder with variable onset, rate of progression, and phenotypic expression. Later-onset, more slowly progressive PKAN often presents with neuropsychiatric
Externí odkaz:
https://doaj.org/article/8cdb795e117241519cd8e48effa0d8c8
Autor:
Kostas Konstantopoulos, Maria Beconi, Kleopas A. Kleopa, Elena Kkolou, George A. Tanteles, Randall D. Marshall, Annita Ormiston, Yiolanda-Panayiota Christou, Horacio Plotkin
Publikováno v:
Case Reports in Neurological Medicine, Vol 2017 (2017)
Case Reports in Neurological Medicine
Case Reports in Neurological Medicine
Objective. Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive disorder with variable onset, rate of progression, and phenotypic expression. Later-onset, more slowly progressive PKAN often presents with neuropsychiatric
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f54d01380ebce84177205ec1bed8eae
https://doaj.org/article/8cdb795e117241519cd8e48effa0d8c8
https://doaj.org/article/8cdb795e117241519cd8e48effa0d8c8
Publikováno v:
Human molecular genetics. 15(10)
Although there is good experimental data that utrophin, the autosomal analog of dystrophin, can ameliorate the phenotype in dystrophinopathies, there is scant evidence from human data to support this hypothesis. We investigated in diagnostic muscle b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b71415e92d8f8232cecf081d5e002cba
https://pubmed.ncbi.nlm.nih.gov/16595608
https://pubmed.ncbi.nlm.nih.gov/16595608