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Monica Holmberg

Kontaktinformation
Befattning:	Professor
Verksam vid:	Medicinsk biovetenskap
Avdelning:	Medicinsk och klinisk genetik
Roller:	Avdelningschef
Adress:	Umeå universitet SE-901 85 Umeå Sverige
Besöksadress:	By 6M, vån 3, Sjukhusområdet
Tel:	+46 90 785 44 06
Fax:	+46 90 13 07 60
E-postadress:	monica.holmberg@medbio.umu.se E-post
Webbsida:	http://www.medbio.umu.se/om-institutionen/personal/holmberg-monica/ Webbsida

Publikationer

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Författare	Titel	År	Fulltext
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	-
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	-
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	2010	-
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	-
Ström, Anna-Lena Forsgren, Lars Holmberg, Monica	Identification and characterization of Spinocerebellar Ataxia Type 7 (SCA7) isoform SCA7b in mice Biochimica et Biophysica Acta, 1731(3): 149-153	2005	-

Sidansvarig: Åsa Lundsten
2010-11-02