Ali-reza R. Moslemi

Goeteborg, O, Sweden

Last Updated: 09/26/2026

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Found 20 publications

Functional analysis of a novel POLγA mutation associated with a severe perinatal mitochondrial encephalomyopathy.

Functional analysis of a novel POLγA mutation associated with a severe perinatal mitochondrial encephalomyopathy.

Journal: Neuromuscular disorders : NMD

Published: October 12, 2020

An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy.

An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy.

Journal: Brain : a journal of neurology

Published: June 18, 2020

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

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

Journal: Annals of clinical and translational neurology

Published: August 01, 2019

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

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

Journal: American journal of human genetics

Published: July 18, 2019

Recessive Charcot-Marie-Tooth and multiple sclerosis associated with a variant in MCM3AP.

Recessive Charcot-Marie-Tooth and multiple sclerosis associated with a variant in MCM3AP.

Journal: Brain communications

Published: June 10, 2019

Expression of the GBGT1 Gene and the Forssman Antigen in Red Blood Cells in a Palestinian Population.

Expression of the GBGT1 Gene and the Forssman Antigen in Red Blood Cells in a Palestinian Population.

Journal: Transfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie

Published: July 10, 2018

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

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

Journal: Blood transfusion = Trasfusione del sangue

Published: May 04, 2016

Histopathological changes in skeletal muscle associated with chronic ischaemia.

Histopathological changes in skeletal muscle associated with chronic ischaemia.

Journal: APMIS : acta pathologica, microbiologica, et immunologica Scandinavica

Published: March 25, 2016

Truncating CHRNG mutations associated with interfamilial variability of the severity of the Escobar variant of multiple pterygium syndrome.

Truncating CHRNG mutations associated with interfamilial variability of the severity of the Escobar variant of multiple pterygium syndrome.

Journal: BMC genetics

Published: September 18, 2015

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

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

Journal: BMC musculoskeletal disorders

Published: July 26, 2015

Developmental MYH3 Myopathy Associated with Expression of Mutant Protein and Reduced Expression Levels of Embryonic MyHC.

Developmental MYH3 Myopathy Associated with Expression of Mutant Protein and Reduced Expression Levels of Embryonic MyHC.

Journal: PloS one

Published: July 08, 2015

Mitochondrial pathology in inclusion body myositis.

Mitochondrial pathology in inclusion body myositis.

Journal: Neuromuscular disorders : NMD

Published: October 25, 2014

Showing 1-12 of 20

Last Updated: 09/26/2026