Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients
Carrozzo, Rosalba, Verrigni, Daniela, Rasmussen, Magnhild, de Coo, Rene, Amartino, Hernan, Bianchi, Marzia, Buhas, Daniela, Mesli, Samir, Naess, Karin, Born, Alfred Peter, Woldseth, Berit, Prontera, Paolo, Batbayli, Mustafa, Ravn, Kirstine, Joensen, Fróði, Cordelli, Duccio M., Santorelli, Filippo Maria, Tulinius, Mar, Darin, Niklas, Duno, Morten, Jouvencel, Philippe, Burlina, Alberto, Stangoni, Gabriela, Bertini, Enrico, Redonnet-Vernhet, Isabelle, Wibrand, Flemming, Dionisi-Vici, Carlo, Uusimaa, Johanna, Vieira, Paivi, Osorio, Andrés Nascimento, McFarland, Robert, Taylor, Robert W., Holme, Elisabeth, Ostergaard, Elsebet
Published in Journal of inherited metabolic disease (01.03.2016)
Published in Journal of inherited metabolic disease (01.03.2016)
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A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria
Ostergaard, Elsebet, Schwartz, Marianne, Batbayli, Mustafa, Christensen, Ernst, Hjalmarson, Ola, Kollberg, Gittan, Holme, Elisabeth
Published in European journal of pediatrics (01.02.2010)
Published in European journal of pediatrics (01.02.2010)
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Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy
Ostergaard, E, Batbayli, M, Duno, M, Vilhelmsen, K, Rosenberg, T
Published in Journal of medical genetics (01.10.2010)
Published in Journal of medical genetics (01.10.2010)
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Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome
Ostergaard, Elsebet, Rodenburg, Richard J, van den Brand, Mariël, Thomsen, Lise Lykke, Duno, Morten, Batbayli, Mustafa, Wibrand, Flemming, Nijtmans, Leo
Published in Journal of medical genetics (01.11.2011)
Published in Journal of medical genetics (01.11.2011)
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A novel RNASEH2B splice site mutation responsible for Aicardi-Goutieres syndrome in the Faroe Islands
Ostergaard, Elsebet, Joensen, Frodi, Sundberg, Karin, Duno, Morten, Hansen, Flemming J, Batbayli, Mustafa, Sørensen, Nicolina, Born, Alfred Peter
Published in Acta Paediatrica (01.11.2012)
Published in Acta Paediatrica (01.11.2012)
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Atypical early-onset Alzheimer's disease caused by the Iranian APP mutation
Lindquist, Suzanne Granhøj, Nielsen, Jørgen Erik, Stokholm, Jette, Schwartz, Marianne, Batbayli, Mustafa, Ballegaard, Martin, Erdal, Jesper, Krabbe, Katja, Waldemar, Gunhild
Published in Journal of the neurological sciences (15.05.2008)
Published in Journal of the neurological sciences (15.05.2008)
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P3-237: Experiences from genetic testing in familial Alzheimer's disease and frontotemporal dementia: Mutation and phenotype spectrum in a Danish cohort
Lindquist, Suzanne G, Schwartz, Marianne, Batbayli, Mustafa, Holm, Ida E, Hasholt, Lis, Waldemar, Gunhild, Nielsen, Jørgen E
Published in Alzheimer's & dementia (01.07.2008)
Published in Alzheimer's & dementia (01.07.2008)
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P3-280: Alzheimer's disease-like clinical phenotype in a family with FTDP-17 caused by a MAPT R406W mutation
Lindquist, Suzanne G, Holm, Ida E, Schwartz, Marianne, Law, Ian, Stokholm, Jette, Batbayli, Mustafa, Waldemar, Gunhild, Nielsen, Jørgen E
Published in Alzheimer's & dementia (01.07.2008)
Published in Alzheimer's & dementia (01.07.2008)
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