Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Mustafa Batbayli"'
Autor:
Suzanne G. Lindquist, Jørgen E. Nielsen, Mustafa Batbayli, S. Mardosiene, Birgitte Bo Andersen, Lena E. Hjermind, Jette Stokholm, Morten Duno, Peter Johannsen, Andreas Puschmann, Hans Brændgaard, Kirsten Svenstrup, Lars H. Pinborg, Karsten Vestergaard
Publikováno v:
Clinical Genetics. 83:279-283
Recently, a hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72 was reported as the cause of chromosome 9p21-linked frontotemporal dementia-amyotrophic lateral sclerosis (FTD-ALS). We here report the prevalence of the expansion in
Autor:
Elisabeth Holme, Rosalba Carrozzo, Andrés Nascimento Osorio, Robert W. Taylor, Carlo Dionisi-Vici, Kirstine Ravn, Hernan Amartino, Duccio Maria Cordelli, Alberto Burlina, Karin Naess, Filippo M. Santorelli, René de Coo, Niklas Darin, Berit Woldseth, Alfred Peter Born, Päivi Vieira, Morten Duno, Flemming Wibrand, Fróði Joensen, Enrico Bertini, Magnhild Rasmussen, Robert McFarland, Daniela Buhas, Gabriela Stangoni, Elsebet Ostergaard, Samir Mesli, Johanna Uusimaa, Marzia Bianchi, Paolo Prontera, Mustafa Batbayli, Isabelle Redonnet-Vernhet, Mar Tulinius, Daniela Verrigni, Philippe Jouvencel
Publikováno v:
Journal of Inherited Metabolic Disease, 39(2), 243-252. Springer Netherlands
JOURNAL OF INHERITED METABOLIC DISEASE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
JOURNAL OF INHERITED METABOLIC DISEASE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Background: The encephalomyopathic mtDNA depletion syndrome with methylmalonic aciduria is associated with deficiency of succinate-CoA ligase, caused by mutations in SUCLA2 or SUCLG1. We report here 25 new patients with succinate-CoA ligase deficienc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::070c2eafaa93092f32a5b226caba1c43
https://pure.eur.nl/en/publications/eaf0bd5d-c2f1-4aec-872e-21f70ce8f61e
https://pure.eur.nl/en/publications/eaf0bd5d-c2f1-4aec-872e-21f70ce8f61e
Autor:
Morten Duno, Karin Sundberg, Flemming Juul Hansen, Mustafa Batbayli, Elsebet Ostergaard, Nicolina Sørensen, Frodi Joensen, Alfred Peter Born
Publikováno v:
Acta Paediatrica. 101:e509-e513
Aim: The aim of the study was to identify the genetic background for Aicardi–Goutieres syndrome (AGS) in the Faroe Islands. Methods: Four patients with AGS were identified. The patients had a variable phenotype, from a severe prenatal form with int
Autor:
Marianne Schwartz, Ola Hjalmarson, Ernst Christensen, Elsebet Ostergaard, Mustafa Batbayli, Elisabeth Holme, Gittan Kollberg
Publikováno v:
European Journal of Pediatrics. 169:201-205
Mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria is associated with mutations in SUCLA2, the gene encoding a beta subunit of succinate-CoA ligase, where 17 patients have been reported. Mutations in SUCLG1, encoding th
Autor:
P. St. George-Hyslop, Marianne Schwartz, Justyna M.C. Bahl, Mustafa Batbayli, Anne Nørremølle, Fusheng Chen, Jette Stokholm, Henning Laursen, Raphaëlle Pardossi-Piquard, Birgitte Bo Andersen, Niels H. H. Heegaard, Suzanne Granhøj Lindquist, Lis Hasholt, Jørgen E. Nielsen, Gunhild Waldemar
Publikováno v:
European Journal of Neurology. 15:1135-1139
Background: Mutations in the Presenilin 2 gene (PSEN2) are rare causes of Alzheimer’s disease (AD). Pathogenic mutations in the genes associated with autosomal dominant inherited AD have been shown to alter processing of the amyloid precursor prote
Autor:
Jesper Erdal, Jørgen E. Nielsen, Gunhild Waldemar, Mustafa Batbayli, Jette Stokholm, Martin Ballegaard, Suzanne Granhøj Lindquist, Katja Krabbe, Marianne Schwartz
Publikováno v:
Journal of the Neurological Sciences. 268:124-130
Background Approximately 1% of all cases of Alzheimer's disease are inherited autosomal dominantly, and to date, three causative genes have been found, the Presenilin 1 (PSEN1) gene, the Presenilin 2 (PSEN2) gene and the Amyloid precursor protein (AP
Autor:
Gunhild Waldemar, Ida Elisabeth Holm, Jette Stokholm, Jørgen E Nielsen, Ian Law, Marianne Schwartz, Mustafa Batbayli, Suzanne G. Lindquist
Publikováno v:
Lindquist, S G, Holm, I E, Schwartz, M, Law, I, Stokholm, J, Batbayli, M, Waldemar, G & Nielsen, J E 2008, ' Alzheimer disease-like clinical phenotype in a family with FTDP-17 caused by a MAPT R406W mutation ', European Journal of Neurology, vol. 15, no. 4, pp. 377-85 . https://doi.org/10.1111/j.1468-1331.2008.02069.x
Udgivelsesdato: 2008-Apr We report clinical, molecular, neuroimaging and neuropathological features of a Danish family with autosomal dominant inherited dementia, a clinical phenotype resembling Alzheimer's disease and a pathogenic mutation (R406W) i
Publikováno v:
Molecular Vision
Purpose The aim of the study was to elucidate the genetic background of retinitis pigmentosa (RP) in a Faroe Islands population, a genetic isolate in the North Atlantic Ocean. Methods Blood samples were collected from subjects diagnosed with RP and t
Autor:
Marianne Schwartz, Mustafa Batbayli, Suzanne G. Lindquist, Gunhild Waldemar, Jørgen E. Nielsen
Publikováno v:
Clinical genetics. 76(2)
Autosomal dominantly transmitted Alzheimer's disease (AD) and frontotemporal dementia (FTD) are genetically heterogeneous disorders. To date, three genes have been identified in which mutations cause early-onset autosomal dominant inherited AD: APP,
Autor:
Ian Law, Marianne Schwartz, Ida Elisabeth Holm, Gunhild Waldemar, Mustafa Batbayli, Suzanne G. Lindquist, Jørgen E Nielsen, Jette Stokholm
Publikováno v:
Alzheimer's & Dementia. 4:T604-T604