Petter Stromme
Overview
Explore the profile of Petter Stromme including associated specialties, affiliations and a list of published articles.
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Articles
59
Citations
1691
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Recent Articles
1.
Ghaffar A, Akhter T, Stromme P, Misceo D, Khan A, Frengen E, et al.
Commun Biol
. 2024 Jul;
7(1):831.
PMID: 38977784
Microtubule associated proteins (MAPs) are widely expressed in the central nervous system, and have established roles in cell proliferation, myelination, neurite formation, axon specification, outgrowth, dendrite, and synapse formation. We...
2.
Ortigoza-Escobar J, Zamani M, Dorison N, Sadeghian S, Azizimalamiri R, Alvi J, et al.
Mov Disord
. 2024 Jun;
39(9):1624-1630.
PMID: 38899514
Background: Biallelic ZBTB11 variants have previously been associated with an ultrarare subtype of autosomal recessive intellectual developmental disorder (MRT69). Objective: The aim was to provide insights into the clinical and...
3.
Misceo D, Stromme P, Bitarafan F, Chawla M, Sheng Y, de Courtade S, et al.
Genes (Basel)
. 2024 Apr;
15(4).
PMID: 38674434
Oxidative phosphorylation involves a complex multi-enzymatic mitochondrial machinery critical for proper functioning of the cell, and defects herein cause a wide range of diseases called "primary mitochondrial disorders" (PMDs). Mutations...
4.
Misceo D, Senaratne L, Mero I, Sundaram A, Bjornstad P, Szczaluba K, et al.
Genes (Basel)
. 2023 Nov;
14(11).
PMID: 38002928
Strømme syndrome is an ultra-rare primary ciliopathy with clinical variability. The syndrome is caused by bi-allelic variants in CENPF, a protein with key roles in both chromosomal segregation and ciliogenesis....
5.
Misceo D, Lirussi L, Stromme P, Sumathipala D, Guerin A, Wolf N, et al.
Brain
. 2023 Mar;
146(8):3513-3527.
PMID: 36917474
RNA polymerase I transcribes ribosomal DNA to produce precursor 47S rRNA. Post-transcriptional processing of this rRNA generates mature 28S, 18S and 5.8S rRNAs, which form the ribosomes, together with 5S...
6.
Saida K, Maroofian R, Sengoku T, Mitani T, Pagnamenta A, Marafi D, et al.
Genet Med
. 2022 Nov;
25(1):90-102.
PMID: 36318270
Purpose: Brain monoamine vesicular transport disease is an infantile-onset movement disorder that mimics cerebral palsy. In 2013, the homozygous SLC18A2 variant, p.Pro387Leu, was first reported as a cause of this...
7.
ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences
Sumathipala D, Stromme P, Fattahi Z, Luders T, Sheng Y, Kahrizi K, et al.
Brain
. 2022 Feb;
145(7):2602-2616.
PMID: 35104841
Bi-allelic pathogenic variants in ZBTB11 have been associated with intellectual developmental disorder, autosomal recessive 69 (MRT69; OMIM 618383). We report five patients from three families with novel, bi-allelic variants in...
8.
Cherik F, Reilly J, Kerkhof J, Levy M, McConkey H, Barat-Houari M, et al.
Genet Med
. 2022 Jan;
24(4):905-914.
PMID: 35027293
Purpose: Gabriele-de Vries syndrome (GADEVS) is a rare genetic disorder characterized by developmental delay and/or intellectual disability, hypotonia, feeding difficulties, and distinct facial features. To refine the phenotype and to...
9.
10.
Epting D, Senaratne L, Ott E, Holmgren A, Sumathipala D, Larsen S, et al.
Hum Mutat
. 2020 Nov;
41(12):2179-2194.
PMID: 33131181
Ciliopathies are clinically and genetically heterogeneous diseases. We studied three patients from two independent families presenting with features of Joubert syndrome: abnormal breathing pattern during infancy, developmental delay/intellectual disability, cerebellar...