Publications by authors named "Ali-Reza Moslemi"

33Publications

Recessive Charcot-Marie-Tooth and multiple sclerosis associated with a variant in .

Brain Commun 2019 3;1(1):fcz011. Epub 2019 Sep 3.

Division of Biomedicine, School of Health Science, University of Skovde, SE-541 28 Skovde, Sweden.

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http://dx.doi.org/10.1093/braincomms/fcz011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7425404PMC
September 2019

Expression of the Gene and the Forssman Antigen in Red Blood Cells in a Palestinian Population.

Transfus Med Hemother 2019 Dec 29;46(6):450-454. Epub 2019 Mar 29.

Department for Clinical Chemistry and Transfusion Medicine, Institute for Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.

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http://dx.doi.org/10.1159/000497288DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6944865PMC
December 2019

Homozygous Null TBX4 Mutations Lead to Posterior Amelia with Pelvic and Pulmonary Hypoplasia.

Am J Hum Genet 2019 12 21;105(6):1294-1301. Epub 2019 Nov 21.

Institute of Medical Biology, Agency for Science, Technology, and Research, 8A Biomedical Grove, Singapore 138648, Republic of Singapore; Institute of Molecular and Cell Biology, Agency for Science, Technology, and Research, 61 Biopolis Drive, Singapore 138673, Republic of Singapore; Department of Medical Genetics, Koç University, School of Medicine, 34010 Topkapı, Istanbul, Turkey. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.10.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6904794PMC
December 2019

Motor neuron diseases caused by a novel VRK1 variant - A genotype/phenotype study.

Ann Clin Transl Neurol 2019 11 27;6(11):2197-2204. Epub 2019 Sep 27.

Centre for Medical Research, The University of Western Australia and the Harry Perkins Institute for Medical Research, Nedlands, Western Australia, Australia.

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http://dx.doi.org/10.1002/acn3.50912DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6856620PMC
November 2019

Ataxia-telangiectasia-like disorder in a family deficient for MRE11A, caused by a variant.

Neurol Genet 2018 Dec 3;4(6):e295. Epub 2018 Dec 3.

Medical Genetics Laboratory (M. Sedghi), Alzahra University Hospital, Isfahan University of Medical Sciences, Isfahan, Iran; Department of Neurology (M. Salari), Shahid Beheshti University of Medical Science, Tehran, Iran; Department of Pathology (A.-R.M.), University of Gothenburg, Sahlgrenska University Hospital, Sweden; Kariminejad-Najmabadi Pathology & Genetics Center (A.K.), Tehran, Iran; Department of Diagnostic Genomics (M.D.), Pathwest, QEII Medical Centre; Centre for Medical Research (H.G., N.L., H.T.), The University of Western Australia and the Harry Perkins Institute for Medical Research, Nedlands, Australia; School of Bioscience (B.O.), University of Skovde; and Division Biomedicine (H.T.), School of Health and Education, University of Skovde, Sweden.

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http://dx.doi.org/10.1212/NXG.0000000000000295DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6283458PMC
December 2018

Prevalence of antibodies to a new histo-blood system: the FORS system.

Blood Transfus 2018 02 24;16(2):178-183. Epub 2016 Oct 24.

Biomedical Sciences Department of ESTESC - Coimbra Health School, Polytechnic Institute of Coimbra, Coimbra, Portugal.

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http://dx.doi.org/10.2450/2016.0120-16DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5839615PMC
February 2018

Histopathological changes in skeletal muscle associated with chronic ischaemia.

APMIS 2016 Nov 19;124(11):935-941. Epub 2016 Aug 19.

Department of Orthopaedics, The Sahlgrenska Academy at the University of Gothenburg, Gothenburg, Sweden.

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http://dx.doi.org/10.1111/apm.12586DOI Listing
November 2016

Lethal multiple pterygium syndrome, the extreme end of the RYR1 spectrum.

BMC Musculoskelet Disord 2016 Mar 1;17:109. Epub 2016 Mar 1.

Department of Pathology, University of Gothenburg, Sahlgrenska University Hospital, SE-413 45, Gothenburg, Sweden.

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http://dx.doi.org/10.1186/s12891-016-0947-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4774121PMC
March 2016

Mitochondrial pathology in inclusion body myositis.

Neuromuscul Disord 2015 Apr 6;25(4):281-8. Epub 2015 Jan 6.

Department of Pathology, Institute of Biomedicine, The Sahlgrenska Academy at the University of Gothenburg, Gothenburg, Sweden. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2014.12.010DOI Listing
April 2015

Broad phenotypic variability in patients with complex I deficiency due to mutations in NDUFS1 and NDUFV1.

Mitochondrion 2015 Mar 20;21:33-40. Epub 2015 Jan 20.

Department of Pediatrics, University of Gothenburg, The Queen Silvia Children's Hospital, Gothenburg, Sweden. Electronic address:

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http://dx.doi.org/10.1016/j.mito.2015.01.003DOI Listing
March 2015

LC-MS/MS characterization of combined glycogenin-1 and glycogenin-2 enzymatic activities reveals their self-glucosylation preferences.

Biochim Biophys Acta 2014 Feb 14;1844(2):398-405. Epub 2013 Nov 14.

Department of Clinical Chemistry and Transfusion Medicine, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden. Electronic address:

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http://dx.doi.org/10.1016/j.bbapap.2013.11.002DOI Listing
February 2014

Subnormal levels of POLγA cause inefficient initiation of light-strand DNA synthesis and lead to mitochondrial DNA deletions and progressive external ophthalmoplegia [corrected].

Hum Mol Genet 2013 Jun 27;22(12):2411-22. Epub 2013 Feb 27.

Department of Pathology, Institute of Biomedicine, The Sahlgrenska Academy at the University of Gothenburg, Gula Stråket 8, Gothenburg SE-413 45, Sweden.

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http://dx.doi.org/10.1093/hmg/ddt094DOI Listing
June 2013

A novel mitochondrial tRNA Arg mutation resulting in an anticodon swap in a patient with mitochondrial encephalomyopathy.

Eur J Hum Genet 2013 May 11;21(5):571-3. Epub 2012 Jul 11.

Department of Pathology, Institute of Biomedicine, The Sahlgrenska Academy at the University of Gothenburg, Gothenburg, Sweden.

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http://dx.doi.org/10.1038/ejhg.2012.153DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3641373PMC
May 2013

Phenotypic and genotypic variability in Alpers syndrome.

Eur J Paediatr Neurol 2012 Jul 10;16(4):379-89. Epub 2012 Jan 10.

Department of Pediatrics, University of Gothenburg, The Queen Silvia's Children Hospital, S-416 85 Gothenburg, Sweden.

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http://dx.doi.org/10.1016/j.ejpn.2011.12.006DOI Listing
July 2012

Molecular pathogenesis of a new glycogenosis caused by a glycogenin-1 mutation.

Biochim Biophys Acta 2012 Apr 9;1822(4):493-9. Epub 2011 Dec 9.

Department of Pathology, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden.

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http://dx.doi.org/10.1016/j.bbadis.2011.11.017DOI Listing
April 2012

Myopathy in a woman and her daughter associated with a novel splice site MTM1 mutation.

Neuromuscul Disord 2012 Mar 18;22(3):244-51. Epub 2011 Nov 18.

Department of Pathology, Institute of Biomedicine, Sahlgrenska Academy at University of Gothenburg, Gothenburg, Sweden.

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http://dx.doi.org/10.1016/j.nmd.2011.10.010DOI Listing
March 2012

Glycogenin-1 deficiency and inactivated priming of glycogen synthesis.

N Engl J Med 2010 Apr;362(13):1203-10

Department of Pathology, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden.

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http://www.nejm.org/doi/abs/10.1056/NEJMoa0900661
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http://dx.doi.org/10.1056/NEJMoa0900661DOI Listing
April 2010

A novel homozygous RRM2B missense mutation in association with severe mtDNA depletion.

Neuromuscul Disord 2009 Feb 12;19(2):147-50. Epub 2009 Jan 12.

Department of Clinical Chemistry, Sahlgrenska University Hospital, Bruna Stråket 16, SE-413 45 Göteborg, Sweden.

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http://dx.doi.org/10.1016/j.nmd.2008.11.014DOI Listing
February 2009

A patient with two mitochondrial DNA mutations causing PEO and LHON.

Eur J Med Genet 2009 Jan-Feb;52(1):47-8. Epub 2008 Nov 5.

Department of Neuroscience, University Hospital, Uppsala, Sweden.

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http://dx.doi.org/10.1016/j.ejmg.2008.10.004DOI Listing
April 2009

Molecular genetic and clinical aspects of mitochondrial disorders in childhood.

Mitochondrion 2007 Jul 14;7(4):241-52. Epub 2007 Feb 14.

Department of Pathology, Göteborg University, Sahlgrenska University Hospital, SE-413 45 Göteborg, Sweden.

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http://dx.doi.org/10.1016/j.mito.2007.02.002DOI Listing
July 2007

A novel sporadic mutation G14739A of the mitochondrial tRNA(Glu) in a girl with exercise intolerance.

Neuromuscul Disord 2006 Dec 20;16(12):874-7. Epub 2006 Oct 20.

University Children's Hospital, Paracelsus Private Medical University, Müllner Hauptstr 48, A-5020 Salzburg, Austria.

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http://dx.doi.org/10.1016/j.nmd.2006.08.010DOI Listing
December 2006

POLG1 mutations associated with progressive encephalopathy in childhood.

J Neuropathol Exp Neurol 2006 Aug;65(8):758-68

Department of Pathology, Sahlgrenska University Hospital, Göteborg, Sweden.

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http://dx.doi.org/10.1097/01.jnen.0000229987.17548.6eDOI Listing
August 2006

Novel mutations in the thymidine kinase 2 gene (TK2) associated with fatal mitochondrial myopathy and mitochondrial DNA depletion.

Neuromuscul Disord 2005 Jun;15(6):412-5

The Queen Silvia Children's Hospital, S-416 85 Göteborg, Sweden.

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http://dx.doi.org/10.1016/j.nmd.2005.03.010DOI Listing
June 2005

Spectrum of myopathic findings in 50 patients with the 3243A>G mutation in mitochondrial DNA.

Brain 2005 Aug 27;128(Pt 8):1861-9. Epub 2005 Apr 27.

Department of Neurology, University of Oulu, Finland.

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http://dx.doi.org/10.1093/brain/awh515DOI Listing
August 2005

Mitochondrial myopathy and rhabdomyolysis associated with a novel nonsense mutation in the gene encoding cytochrome c oxidase subunit I.

J Neuropathol Exp Neurol 2005 Feb;64(2):123-8

Department of Pathology, Sahlgrenska University Hospital, Göteborg, Sweden.

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http://dx.doi.org/10.1093/jnen/64.2.123DOI Listing
February 2005

Low frequency of mtDNA point mutations in patients with PEO associated with POLG1 mutations.

Eur J Hum Genet 2005 Apr;13(4):463-9

Department of Pathology, Sahlgrenska University Hospital, Göteborg, Sweden.

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http://dx.doi.org/10.1038/sj.ejhg.5201341DOI Listing
April 2005