Monica Holmberg

Head of Unit
Medical and Clinical Genetics

Publications

Author

Title

Year sorteringsordning

Fulltext

Rawcliffe, Denise F. R.
Österman, Lennart
Lindsten, Hans; et al.

The High Level of Aberrant Splicing of ISCU in Slow-Twitch Muscle May Involve the Splicing Factor SRSF3
PLoS ONE, 11(10)

2016

Download

Nordin, Angelica
Larsson, Elin
Holmberg, Monica

The defective splicing caused by the ISCU intron mutation in patients with myopathy with lactic acidosis is repressed by PTBP1 but can be de-repressed by IGF2BP1
Human Mutation, 33(3): 467-470

2012

-

Nordin, Angelica
Larsson, Elin
Thornell, Lars-Eric; et al.

Tissue-specific splicing of ISCU results in a skeletal muscle phenotype in myopathy with lactic acidosis, while complete loss of ISCU results in early embryonic death in mice
Human Genetics, 129(4): 371-378

2011

-

Norgren, Nina
Mattson, Emma
Forsgren, Lars; et al.

A high-penetrance form of late-onset torsion dystonia maps to a novel locus (DYT21) on chromosome 2q14.3-q21.3
Neurogenetics, 12(2): 137-143

2011

-

Minde, Jan
Andersson, T
Fulford, M; et al.

A novel NGFB point mutation: a phenotype study of heterozygous patients
Journal of Neurology, Neurosurgery and Psychiatry, 80(2): 188-195

2009

-

Blomstedt, Patric
Hariz, Marwan I
Tisch, Stephen; et al.

A family with a hereditary form of torsion dystonia from northern Sweden treated with bilateral pallidal deep brain stimulation
Movement Disorders, 24(16): 2415-2419

2009

-

Larsson, Elin
Kuma, Regina
Norberg, Anna; et al.

Nerve growth factor R221W responsible for insensitivity to pain is defectively processed and accumulates as proNGF
Neurobiology of Disease, 33(2): 221-228

2009

-

Olsson, Angelica
Lind, Lisbet
Thornell, Lars-Eric; et al.

Myopathy with lactic acidosis is linked to chromosome 12q23.3-24.11 and caused by an intron mutation in the ISCU gene resulting in a splicing defect
Human Molecular Genetics, 17(11): 1666-1672

2008

-

Norberg, Anna
Forsgren, Lars
Holmberg, Dan; et al.

Exclusion of the juvenile myoclonic epilepsy gene EFHC1 as the cause of migraine on chromosome 6, but association to two rare polymorphisms in MEP1A and RHAG.
Neuroscience Letters, 396(2): 137-142

2006

-

Minde, Jan
Svensson, Olle
Holmberg, Monica; et al.

Orthopedic aspects of familial insensitivity to pain due to a novel nerve growth factor beta mutation.
Acta Orthopaedica, 77(2): 198-202

2006

-


Page Editor: Clas Wikström

Print page