Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

336 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Variants in tropomyosins TPM2 and TPM3 causing muscle hypertonia.
Wallgren-Pettersson C, Jokela M, Lehtokari VL, Tyynismaa H, Sainio MT, Ylikallio E, Tynninen O, Pelin K, Auranen M. Wallgren-Pettersson C, et al. Among authors: jokela m. Neuromuscul Disord. 2024 Feb;35:29-32. doi: 10.1016/j.nmd.2023.12.006. Epub 2023 Dec 15. Neuromuscul Disord. 2024. PMID: 38219297 Free article.
Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy.
Sainio MT, Välipakka S, Rinaldi B, Lapatto H, Paetau A, Ojanen S, Brilhante V, Jokela M, Huovinen S, Auranen M, Palmio J, Friant S, Ylikallio E, Udd B, Tyynismaa H. Sainio MT, et al. Among authors: jokela m. J Neurol. 2019 Feb;266(2):353-360. doi: 10.1007/s00415-018-9137-8. Epub 2018 Dec 4. J Neurol. 2019. PMID: 30515627 Free PMC article.
CHCHD10 mutations and motor neuron disease: the distribution in Finnish patients.
Penttilä S, Jokela M, Saukkonen AM, Toivanen J, Palmio J, Lähdesmäki J, Sandell S, Shcherbii M, Auranen M, Ylikallio E, Tyynismaa H, Udd B. Penttilä S, et al. Among authors: jokela m. J Neurol Neurosurg Psychiatry. 2017 Mar;88(3):272-277. doi: 10.1136/jnnp-2016-314154. Epub 2016 Nov 3. J Neurol Neurosurg Psychiatry. 2017. PMID: 27810918 No abstract available.
Loss of MICOS complex integrity and mitochondrial damage, but not TDP-43 mitochondrial localisation, are likely associated with severity of CHCHD10-related diseases.
Genin EC, Bannwarth S, Lespinasse F, Ortega-Vila B, Fragaki K, Itoh K, Villa E, Lacas-Gervais S, Jokela M, Auranen M, Ylikallio E, Mauri-Crouzet A, Tyynismaa H, Vihola A, Augé G, Cochaud C, Sesaki H, Ricci JE, Udd B, Vives-Bauza C, Paquis-Flucklinger V. Genin EC, et al. Among authors: jokela m. Neurobiol Dis. 2018 Nov;119:159-171. doi: 10.1016/j.nbd.2018.07.027. Epub 2018 Aug 6. Neurobiol Dis. 2018. PMID: 30092269 Free PMC article.
Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis.
Cabrera-Serrano M, Caccavelli L, Savarese M, Vihola A, Jokela M, Johari M, Capiod T, Madrange M, Bugiardini E, Brady S, Quinlivan R, Merve A, Scalco R, Hilton-Jones D, Houlden H, Aydin HI, Ceylaner S, Drewes S, Vockley J, Taylor RL, Folland C, Kelly A, Goullee H, Ylikallio E, Auranen M, Tyynismaa H, Udd B, Forrest ARR, Davis MR, Bratkovic D, Manton N, Robertson T, O'Gorman C, McCombe P, Laing NG, Phillips L, de Lonlay P, Ravenscroft G. Cabrera-Serrano M, et al. Among authors: jokela m. Brain. 2022 Nov 21;145(11):3985-3998. doi: 10.1093/brain/awab484. Brain. 2022. PMID: 34957489 Free article.
NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathy.
Ranu N, Laitila J, Dugdale HF, Mariano J, Kolb JS, Wallgren-Pettersson C, Witting N, Vissing J, Vilchez JJ, Fiorillo C, Zanoteli E, Auranen M, Jokela M, Tasca G, Claeys KG, Voermans NC, Palmio J, Huovinen S, Moggio M, Beck TN, Kontrogianni-Konstantopoulos A, Granzier H, Ochala J. Ranu N, et al. Among authors: jokela m. Acta Neuropathol Commun. 2022 Dec 17;10(1):185. doi: 10.1186/s40478-022-01491-9. Acta Neuropathol Commun. 2022. PMID: 36528760 Free PMC article.
Mutations in the J domain of DNAJB6 cause dominant distal myopathy.
Palmio J, Jonson PH, Inoue M, Sarparanta J, Bengoechea R, Savarese M, Vihola A, Jokela M, Nakagawa M, Noguchi S, Olivé M, Masingue M, Kerty E, Hackman P, Weihl CC, Nishino I, Udd B. Palmio J, et al. Among authors: jokela m. Neuromuscul Disord. 2020 Jan;30(1):38-46. doi: 10.1016/j.nmd.2019.11.005. Epub 2019 Nov 19. Neuromuscul Disord. 2020. PMID: 31955980 Free PMC article.
336 results