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- Ali-Reza Moslemi
Ali-Reza Moslemi
Universitetslektor
Institutionen för biomedicin-
An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor
neuropathy
A. T. Pagnamenta, R. Kaiyrzhanov, Y. Q. Zou, S. I. Da'as, R. Maroofian, S. Donkervoort, N. Dominik, M. Lauffer, M. P. Ferla, A. Orioli, A. Giess, A. Tucci, C. Beetz, M. Sedghi, B. Ansari, R. Barresi, K. Basiri, A. Cortese, G. Elgar, M. A. Fernandez-Garcia, J. Yip, A. R. Foley, N. Gutowski, H. Jungbluth, S. Lassche, T. Lavin, C. Marcelis, P. Marks, C. Marini-Bettolo, L. Medne, Ali-Reza Moslemi, A. Sarkozy, M. M. Reilly, F. Muntoni, F. Millan, C. C. Muraresku, A. C. Need, A. H. Nemeth, S. B. Neuhaus, F. Norwood, M. O'Donnell, M. O'Driscoll, J. Rankin, S. W. Yum, Z. Zolkipli-Cunningham, I. Brusius, G. Wunderlich, M. Karakaya, B. Wirth, K. A. Fakhro, H. Tajsharghi, C. G. Bonnemann, J. C. Taylor, H. Houlden
Brain : a journal of neurology - 2021 -
Functional analysis of a novel POL gamma A mutation associated with a severe perinatal mitochondrial
encephalomyopathy
Niklas Darin, Triinu Siibak, Bradley Peter, Carola Oldfors Hedberg, Gittan Kollberg, Vassili Kalbin, Ali-Reza Moslemi, Bertil Macao, Anders Oldfors, Maria Falkenberg
Neuromuscular Disorders - 2021 -
Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic
encephalopathy
N. Chatron, F. Becker, H. Morsy, M. Schmidts, K. Hardies, B. Tuysuz, Sandra Roselli, M. Najafi, D. U. Alkaya, F. Ashrafzadeh, A. Nabil, T. Omar, R. Maroofian, E. G. Karimiani, H. Hussien, F. Kok, L. Ramos, N. Gunes, K. Bilguvar, A. Labalme, E. Alix, D. Sanlaville, J. de Bellescize, A. L. Poulat, Ali-Reza Moslemi, H. Lerche, P. May, G. Lesca, S. Weckhuysen, H. Tajsharghi
Brain - 2020 -
Homozygous Null TBX4 Mutations Lead to Posterior Amelia with Pelvic and Pulmonary
Hypoplasia
A. Kariminejad, E. Szenker-Ravi, C. Lekszas, H. Tajsharghi, Ali-Reza Moslemi, T. Naert, H. T. Tran, F. Ahangari, M. Rajaei, M. Nasseri, T. Haaf, A. Azad, A. Superti-Furga, R. Maroofian, S. Ghaderi-Sohi, H. Najmabadi, M. R. Abbaszadegan, K. Vleminckx, P. Nikuei, B. Reversade
American Journal of Human Genetics - 2019 -
Recessive Charcot-Marie-Tooth and multiple sclerosis associated with a variant in
MCM3AP
M. Sedghi, Ali-Reza Moslemi, M. Cabrera-Serrano, B. Ansari, M. Ghasemi, M. Baktashian, A. Fattahpour, H. Tajsharghi
Brain Communications - 2019 -
Expression of the GBGT1 Gene and the Forssman Antigen in Red Blood Cells in a Palestinian
Population
W. A. Abusibaa, M. A. Srour, Ali-Reza Moslemi, Lola Svensson, C. Jesus, F. Mendes, Camilla Hesse
Transfusion Medicine and Hemotherapy - 2019 -
Motor neuron diseases caused by a novel VRK1 variant – A genotype/phenotype
study
M. Sedghi, Ali-Reza Moslemi, M. Olive, M. Etemadifar, B. Ansari, J. Nasiri, Leila Emrahi, H. R. Mianesaz, N. G. Laing, H. Tajsharghi
Annals of Clinical and Translational Neurology - 2019 -
Ataxia-telangiectasia-like disorder in a family deficient for MRE11A, caused by a MRE11
variant
M. Sedghi, M. Salari, Ali-Reza Moslemi, A. Kariminejad, M. Davis, H. Goullee, B. Olsson, N. Laing, H. Tajsharghi
Neurology-Genetics - 2018 -
Prevalence of antibodies to a new histo-blood system: the FORS
system
C. Jesus, Camilla Hesse, C. Rocha, N. Osorio, A. Valado, A. Caseiro, A. Gabriel, Lola Svensson, Ali-Reza Moslemi, W. Abu Siba, M. A. Srour, C. Pereira, J. Tomaz, P. Teixeira, F. Mendes
Blood Transfusion - 2018 -
Benign mitochondrial myopathy with exercise intolerance in a large multigeneration family due to a homoplasmic m.3250T>C mutation in
MTTL1.
Niklas Darin, Carola Oldfors Hedberg, Anna-Karin Kroksmark, Ali-Reza Moslemi, Gittan Kollberg, Anders Oldfors
European journal of neurology - 2017 -
Histopathological changes in skeletal muscle associated with chronic
ischaemia.
Sara Roos, Katharina Stibrant Sunnerhagen, Ali-Reza Moslemi, Anders Oldfors
APMIS : acta pathologica, microbiologica, et immunologica Scandinavica - 2016 -
Truncating CHRNG mutations associated with interfamilial variability of the severity of the Escobar variant of multiple pterygium
syndrome
A. Kariminejad, N. Almadani, A. Khoshaeen, B. Olsson, Ali-Reza Moslemi, Homa Tajsharghi
Bmc Genetics - 2016 -
Lethal multiple pterygium syndrome, the extreme end of the RYR1
spectrum
A. Kariminejad, S. Ghaderi-Sohi, H. H. N. Nedai, V. Varasteh, Ali-Reza Moslemi, Homa Tajsharghi
Bmc Musculoskeletal Disorders - 2016 -
Developmental MYH3 Myopathy Associated with Expression of Mutant Protein and Reduced Expression Levels of Embryonic
MyHC
Malgorzata Pokrzywa, Michaela Norum, Johan Lengqvist, Mehrnaz Ghobadpour, Saba Abdul-Hussein, Ali-Reza Moslemi, Homa Tajsharghi
PLoS One - 2015 -
Mitochondrial pathology in inclusion body
myositis
Ulrika Lindgren, Sara Roos, Carola Oldfors Hedberg, Ali-Reza Moslemi, Christopher Lindberg, Anders Oldfors
Neuromuscular Disorders - 2015 -
Broad phenotypic variability in patients with complex I deficiency due to mutations in NDUFS1 and
NDUFV1.
Kristoffer Björkman, Kalliopi Sofou, Niklas Darin, Elisabeth Holme, Gittan Kollberg, Jorge Asin-Cayuela, Karin M Holmberg Dahle, Anders Oldfors, Ali-Reza Moslemi, Mar Tulinius
Mitochondrion - 2015 -
LC-MS/MS characterization of combined glycogenin-1 and glycogenin-2 enzymatic activities reveals their self-glucosylation
preferences.
Johanna Nilsson, Adnan Halim, Erik Larsson, Ali-Reza Moslemi, Anders Oldfors, Göran Larson, Jonas Nilsson
Biochimica et biophysica acta - 2014 -
Genotype-phenotype correlations in patients with complex I deficiency due to mutations in NDUFS1 and
NDUFV1
Kristoffer Björkman, Kalliopi Sofou, Niklas Darin, Elisabeth Holme, Gittan Kollberg, Jorge Asin-Cayuela, Karin M Holmberg Dahle, Anders Oldfors, Mar Tulinius, Ali-Reza Moslemi
Euromit 2014, 15-19 juni, Tampere, Finland - 2014 -
Mitochondrial DNA depletion in single fibers in a patient with novel TK2
mutations
Sara Roos, U. Lindgren, C. Ehrstedt, Ali-Reza Moslemi, Anders Oldfors
Neuromuscular Disorders - 2014 -
Isolated complex I deficiency and atypical clinical courses in three patients due to novel mutations in NDUFS1 and
NDUFV1
Kristoffer Björkman, Kalliopi Sofou, Niklas Darin, Gittan Kollberg, Elisabeth Holme, Mar Tulinius, Anders Oldfors, Ali-Reza Moslemi
European Journal of Paediatric Neurology. 10th EPNS Congress 25-28 September 2013, Brussels, Belgium - 2013 -
Subnormal levels of POLgA cause inefficient initiation of light-strand DNA synthesis and lead to mitochondrial DNA deletions and progressive external
ophthalmoplegia
Sara Roos, Bertil Macao, Javier Miralles Fusté, Christopher Lindberg, Elisabeth Jemt, Elisabeth Holme, Ali-Reza Moslemi, Anders Oldfors, Maria Falkenberg
Human Molecular Genetics - 2013 -
Phenotypes of Myopathy-Related Beta-Tropomyosin Mutants in Human and Mouse Tissue
Cultures
Saba Abdul-Hussein, Karin Rahl, Ali-Reza Moslemi, Homa Tajsharghi
Plos One - 2013 -
A novel mitochondrial tRNA Arg mutation resulting in an anticodon swap in a patient with mitochondrial
encephalomyopathy.
Sara Roos, Niklas Darin, Gittan Kollberg, Marita Andersson Grönlund, Mar Tulinius, Elisabeth Holme, Ali-Reza Moslemi, Anders Oldfors
European journal of human genetics : EJHG - 2013 -
Myopathy in a woman and her daughter associated with a novel splice site MTM1
mutation.
Carola Hedberg, Christopher Lindberg, Gyöngyvér Máthé, Ali-Reza Moslemi, Anders Oldfors
Neuromuscular disorders : NMD - 2012 -
Molecular pathogenesis of a new glycogenosis caused by a glycogenin-1
mutation.
Johanna Nilsson, Adnan Halim, Ali-Reza Moslemi, Anders Pedersen, Jonas Nilsson, Göran Larson, Anders Oldfors
Biochimica et biophysica acta - 2012 -
Phenotypic and genotypic variability in Alpers
syndrome.
Kalliopi Sofou, Ali-Reza Moslemi, Gittan Kollberg, Ingibjörg Bjarnadottir, Anders Oldfors, Inger Nennesmo, Elisabeth Holme, Mar Tulinius, Niklas Darin
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 2012 -
Ophthalmological findings in children and young adults with genetically verified mitochondrial
disease
Marita Andersson Grönlund, Antovan Seyedi Honarvar , Susann Andersson, Ali-Reza Moslemi, Anders Oldfors, Elisabeth Holme, Mar Tulinius, Niklas Darin
British Journal of Ophthalmology - 2010 -
Glycogenin-1 deficiency and inactivated priming of glycogen
synthesis.
Ali-Reza Moslemi, Christopher Lindberg, Johanna Nilsson, Homa Tajsharghi, Bert Andersson, Anders Oldfors
The New England journal of medicine - 2010 -
Molecular basis of infantile reversible cytochrome c oxidase deficiency
myopathy.
Rita Horvath, John P Kemp, Helen A L Tuppen, Gavin Hudson, Anders Oldfors, Suely K N Marie, Ali-Reza Moslemi, Serenella Servidei, Elisabeth Holme, Sara Shanske, Gittan Kollberg, Parul Jayakar, Angela Pyle, Harold M Marks, Elke Holinski-Feder, Mena Scavina, Maggie C Walter, Jorida Coku, Andrea Günther-Scholz, Paul M Smith, Robert McFarland, Zofia M A Chrzanowska-Lightowlers, Robert N Lightowlers, Michio Hirano, Hanns Lochmüller, Robert W Taylor, Patrick F Chinnery, Mar Tulinius, Salvatore DiMauro
Brain : a journal of neurology - 2009 -
A novel homozygous RRM2B missense mutation in association with severe mtDNA
depletion.
Gittan Kollberg, Niklas Darin, Karin Benan, Ali-Reza Moslemi, Sigurd Lindal, Mar Tulinius, Anders Oldfors, Elisabeth Holme
Neuromuscular disorders : NMD - 2009 -
A patient with two mitochondrial DNA mutations causing PEO and
LHON.
Atle Melberg, Ali-Reza Moslemi, Oscar Palm, Raili Raininko, Erik Stålberg, Anders Oldfors
European journal of medical genetics - 2009 -
Syn- och ögonförändringar hos 59 barn och ungdomar med genetisk verifierad mitokondriell
sjukdom
Antovan Seyedi Honarvar , S Andersson, Niklas Darin, Mar Tulinius, Ali-Reza Moslemi, Marita Andersson Grönlund
Svenska Läkarsällskapets Riksstämma, Göteborg, Sverige, 26-28 nov 2008. Poster - 2008 -
Ophthalmologic findings in 60 children and young adults with genetically verified mitochondrial
disease
Antovan Seyedi Honarvar , S Andersson, Niklas Darin, Mar Tulinius, Ali-Reza Moslemi, Marita Andersson Grönlund
The 7th European Meeting on Mitochondrial Pathology, Stockholm, 11-14 juni 2008. Poster - 2008 -
Progressive encephalopathy and complex I deficiency associated with mutations in
MTND1.
Ali-Reza Moslemi, Niklas Darin, Mar Tulinius, L. M. Wiklund, Elisabeth Holme, Anders Oldfors
Neuropediatrics - 2008 -
MELAS syndrome in a patient with a point mutation in
MTTS1.
Christopher Lindberg, Ali-Reza Moslemi, Anders Oldfors
Acta neurologica Scandinavica - 2008 -
Inflammation and response to steroid treatment in limb-girdle muscular dystrophy
2I
Niklas Darin, Anna-Karin Kroksmark, Anne-Christine Åhlander, Ali-Reza Moslemi, Anders Oldfors, Mar Tulinius
Eur J Paediatr Neurol - 2007 -
Molecular genetic and clinical aspects of mitochondrial disorders in
childhood
Ali-Reza Moslemi, Niklas Darin
MITOCHONDRION - 2007 -
MELAS syndrome in a patient with a point mutation in
MTTS1.
Ali-Reza Moslemi
Acta Neurol Scand - 2007 -
Mitochondrial myopathy with retinal dystrophy and exercise intolerance in a sporadic patient with a G583A mutation in the mt tRNA phe
gene
Marita Andersson Grönlund, Susann Andersson, Ali-Reza Moslemi, Mar Tulinius, E. Holme, Niklas Darin
The European Pediatric Ophthalmology Society (EPOS), Viamora, Portugal, 6-7 okt 2006. Poster. - 2006 -
Mitochondrial abnormalities in inclusion-body
myositis
Anders Oldfors, Ali-Reza Moslemi, L Jonasson, Monica Ohlsson, Gittan Kollberg, Christopher Lindberg
Neurology - 2006 -
POLG1 mutations associated with progressive encephalopathy in
childhood.
Gittan Kollberg, Ali-Reza Moslemi, Niklas Darin, Inger Nennesmo, Ingibjörg Bjarnadottir, Paul Uvebrant, Elisabeth Holme, Atle Melberg, Mar Tulinius, Anders Oldfors
Journal of neuropathology and experimental neurology - 2006 -
Mitochondrial myopathy with exercise intolerance and retinal dystrophy in a sporadic patient with a G583A mutation in the mt tRNA(phe)
gene
Niklas Darin, Gittan Kollberg, Ali-Reza Moslemi, Mar Tulinius, Elisabeth Holme, Marita Andersson Grönlund, S Andersson, Anders Oldfors
Neuromuscular disorders : NMD - 2006 -
A Western blot and molecular genetic investigation of the estrogen receptor beta in giant cell
arteritis.
K Larsson, Claes Nordborg, Ali-Reza Moslemi, Elisabeth Nordborg
Clinical and experimental rheumatology - 2006 -
A novel sporadic mutation G14739A of the mitochondrial tRNA(Glu) in a girl with exercise
intolerance
J A Mayr, Ali-Reza Moslemi, Holger Förster, Adrian Kamper, Carmen Idriceanu, W Muss, Michael Huemer, Anders Oldfors, W Sperl
Neuromuscul Disord - 2006 -
Two new mutations in the MTATP6 gene associated with Leigh
syndrome.
Ali-Reza Moslemi, Niklas Darin, Mar Tulinius, Anders Oldfors, Elisabeth Holme
Neuropediatrics - 2005 -
Novel mutations in the thymidine kinase 2 gene (TK2) associated with fatal mitochondrial myopathy and mitochondrial DNA
depletion.
Mar Tulinius, Ali-Reza Moslemi, Niklas Darin, Elisabeth Holme, Anders Oldfors
Neuromuscular disorders : NMD - 2005 -
Alzheimer pathology associated with POLG1 mutation, multiple mtDNA deletions, and APOE4/4: premature ageing or just
coincidence?
Atle Melberg, Inger Nennesmo, Ali-Reza Moslemi, Gittan Kollberg, Petri Luoma, Anu Suomalainen, Elisabeth Holme, Anders Oldfors
Acta neuropathologica - 2005 -
Spectrum of myopathic findings in 50 patients with the 3243A>G mutation in mitochondrial
DNA
Mikko Kärppä, Ritta Herva, Ali-Reza Moslemi, Anders Oldfors, Sakari Kakko, Kari Majamaa
Brain - 2005 -
Mitochondrial myopathy and rhabdomyolysis associated with a novel nonsense mutation in the gene encoding cytochrome c oxidase subunit
I.
Gittan Kollberg, Ali-Reza Moslemi, Christopher Lindberg, Elisabeth Holme, Anders Oldfors
Journal of neuropathology and experimental neurology - 2005 -
Low frequency of mtDNA point mutations in patients with PEO associated with POLG1
mutations.
Gittan Kollberg, Monica Jansson, Åsa Pérez-Bercoff, Atle Melberg, Christopher Lindberg, Elisabeth Holme, Ali-Reza Moslemi, Anders Oldfors
European journal of human genetics : EJHG - 2005 -
A novel mutation in the mitochondrial tRNA(Phe) gene associated with mitochondrial
myopathy
Ali-Reza Moslemi, Christopher Lindberg, J. Toft, Elisabeth Holme, Gittan Kollberg, Anders Oldfors
Neuromuscul Disord - 2004