Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Aurelie Vandebrouck"'
Autor:
Michelle Peckham, David O. Hutchinson, Valentina A. Valova, Phillip J. Robinson, Sandra T. Cooper, Ana Domazetovska, Aurelie Vandebrouck, Biljana Ilkovski, Kathryn N. North, Vikash Kumar, John C. Sparrow
Publikováno v:
Annals of Neurology. 62:597-608
Objective Mutations in the α-skeletal actin gene (ACTA1) result in a variety of inherited muscle disorders characterized by different pathologies and variable clinical phenotypes. Mutations at Val163 in ACTA1 result in pure intranuclear rod myopathy
Autor:
Biljana Ilkovski, Aurelie Vandebrouck, Nancy Mokbel, Sandra T. Cooper, Kathryn N. North, Ana Domazetovska
Publikováno v:
Journal of neuropathology and experimental neurology. 69(5)
Rods are the pathological hallmark of nemaline myopathy, but they can also occur as a secondary phenomenon in other disorders, including mitochondrial myopathies such as complex I deficiency. The mechanisms of rod formation are not well understood, p
Autor:
Nan Yang, Joanna M. Raftery, Kathryn N. North, Monkol Lek, Robert G. Parton, Aurelie Vandebrouck, Gregory J. Cooney, Nigel Turner, Jane T. Seto, Kate G. R. Quinlan, Daniel G. MacArthur, Matthias Floetenmeyer
Publikováno v:
Human molecular genetics. 19(7)
Approximately one billion people worldwide are homozygous for a stop codon polymorphism in the ACTN3 gene (R577X) which results in complete deficiency of the fast fibre muscle protein alpha-actinin-3. ACTN3 genotype is associated with human athletic