Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Iselin Marie Wedding"'
Autor:
Kathrine O. Eriksen, Andreas Reidar Wigers, Iselin Marie Wedding, Anne Kjersti Erichsen, Tuva Barøy, Kristoffer Søberg, Øystein Kalsnes Jørstad
Publikováno v:
American Journal of Ophthalmology Case Reports, Vol 26, Iss , Pp 101400- (2022)
Purpose: To describe a case of hereditary spastic ataxia (HSP) presenting with childhood optic nerve atrophy and report a novel homozygous variant in the SPG7 gene. Observations: A 57-year-old man suffering from progressive optic nerve atrophy since
Externí odkaz:
https://doaj.org/article/16d5c2b889a649b185a6450f0c691660
Autor:
Iselin Marie Wedding, Jeanette Koht, Gia Tuong Tran, Doriana Misceo, Kaja Kristine Selmer, Asbjørn Holmgren, Eirik Frengen, Laurence Bindoff, Chantal M E Tallaksen, Charalampos Tzoulis
Publikováno v:
PLoS ONE, Vol 9, Iss 1, p e86340 (2014)
Spastic paraplegia 7 is an autosomal recessive disorder caused by mutations in the gene encoding paraplegin, a protein located at the inner mitochondrial membrane and involved in the processing of other mitochondrial proteins. The mechanism whereby p
Externí odkaz:
https://doaj.org/article/5f84c1ba73a843048d73e2691082dd82
Autor:
Iselin Marie, Wedding, Mette, Kroken, Sandra Pilar, Henriksen, Kaja Kristine, Selmer, Torunn, Fiskerstrand, Per Morten, Knappskog, Tone, Berge, Chantal M E, Tallaksen
Publikováno v:
Orphanet Journal of Rare Diseases
Background Friedreich ataxia is an autosomal recessive hereditary spinocerebellar disorder, characterized by progressive limb and gait ataxia due to proprioceptive loss, often complicated by cardiomyopathy, diabetes and skeletal deformities. Friedrei
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::bf2330f12d96509731e1db811b8798f6
https://pubmed.ncbi.nlm.nih.gov/26338206
https://pubmed.ncbi.nlm.nih.gov/26338206