E-LIB Suche - Ergebnisse für: Moslemi, Ali-Reza

1

Functional analysis of a novel POLγA mutation associated wi..:

Darin, Niklas ; Siibak, Triinu ; Peter, Bradley...
Neuromuscular Disorders. 31 (2021) 4 - p. 348-358 , 2021

Link: https://doi.org/10.1016/..

2

Recessive Charcot-Marie-Tooth and multiple sclerosis associ..:

Sedghi, Maryam ; Moslemi, Ali-Reza ; Cabrera-Serrano, Macarena...
Brain Communications. 1 (2019) 1 - p. , 2019

Link: https://doi.org/10.1093/..

3

Lethal multiple pterygium syndrome, the extreme end of the ..:

Kariminejad, Ariana ; Ghaderi-Sohi, Siavash ; Hossein-Nejad Nedai, Hamid...
BMC Musculoskeletal Disorders. 17 (2016) 1 - p. , 2016

Link: https://doi.org/10.1186/..

4

Truncating CHRNG mutations associated with interfamilial va..:

Kariminejad, Ariana ; Almadani, Navid ; Khoshaeen, Atefeh...
BMC Genetics. 17 (2016) 1 - p. , 2016

Link: https://doi.org/10.1186/..

5

Mitochondrial pathology in inclusion body myositis:

Lindgren, Ulrika ; Roos, Sara ; Hedberg Oldfors, Carola...
Neuromuscular Disorders. 25 (2015) 4 - p. 281-288 , 2015

Link: https://doi.org/10.1016/..

6

Broad phenotypic variability in patients with complex I def..:

Björkman, Kristoffer ; Sofou, Kalliopi ; Darin, Niklas...
Mitochondrion. 21 (2015) - p. 33-40 , 2015

Link: https://doi.org/10.1016/..

7

Developmental MYH3 Myopathy Associated with Expression of M..:

Pokrzywa, Malgorzata ; Norum, Michaela ; Lengqvist, Johan...
PLOS ONE. 10 (2015) 11 - p. e0142094 , 2015

Link: https://doi.org/10.1371/..

8

LC–MS/MS characterization of combined glycogenin-1 and glyc..:

Nilsson, Johanna ; Halim, Adnan ; Larsson, Erik...
Biochimica et Biophysica Acta (BBA) - Proteins and Proteomics. 1844 (2014) 2 - p. 398-405 , 2014

Link: https://doi.org/10.1016/..

9

Subnormal levels of POLγA cause inefficient initiation of l..:

Roos, Sara ; Macao, Bertil ; Fusté, Javier Miralles...
Human Molecular Genetics. 22 (2013) 12 - p. 2411-2422 , 2013

Link: https://doi.org/10.1093/..

10

Phenotypes of Myopathy-Related Beta-Tropomyosin Mutants in ..:

Abdul-Hussein, Saba ; Rahl, Karin ; Moslemi, Ali-Reza..
PLoS ONE. 8 (2013) 9 - p. e72396 , 2013

Link: https://doi.org/10.1371/..

11

Phenotypic and genotypic variability in Alpers syndrome:

Sofou, Kalliopi ; Moslemi, Ali-Reza ; Kollberg, Gittan...
European Journal of Paediatric Neurology. 16 (2012) 4 - p. 379-389 , 2012

Link: https://doi.org/10.1016/..

12

Molecular pathogenesis of a new glycogenosis caused by a gl..:

Nilsson, Johanna ; Halim, Adnan ; Moslemi, Ali-Reza...
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1822 (2012) 4 - p. 493-499 , 2012

Link: https://doi.org/10.1016/..

13

Myopathy in a woman and her daughter associated with a nove..:

Hedberg, Carola ; Lindberg, Christopher ; Máthé, Gyöngyvér..
Neuromuscular Disorders. 22 (2012) 3 - p. 244-251 , 2012

Link: https://doi.org/10.1016/..

14

A patient with two mitochondrial DNA mutations causing PEO ..:

Melberg, Atle ; Moslemi, Ali-Reza ; Palm, Oscar...
European Journal of Medical Genetics. 52 (2009) 1 - p. 47-48 , 2009

Link: https://doi.org/10.1016/..

15

A novel homozygous RRM2B missense mutation in association w..:

Kollberg, Gittan ; Darin, Niklas ; Benan, Karin...
Neuromuscular Disorders. 19 (2009) 2 - p. 147-150 , 2009

Link: https://doi.org/10.1016/..