Jokela M - Search Results

1

Late onset spinal motor neuronopathy is caused by mutation in CHCHD10.

Penttilä S, Jokela M, Bouquin H, Saukkonen AM, Toivanen J, Udd B. Penttilä S, et al. Among authors: jokela m. Ann Neurol. 2015 Jan;77(1):163-72. doi: 10.1002/ana.24319. Epub 2014 Dec 12. Ann Neurol. 2015. PMID: 25428574

2

Autosomal dominant late-onset spinal motor neuronopathy is linked to a new locus on chromosome 22q11.2-q13.2.

Penttilä S, Jokela M, Hackman P, Maija Saukkonen A, Toivanen J, Udd B. Penttilä S, et al. Among authors: jokela m. Eur J Hum Genet. 2012 Nov;20(11):1193-6. doi: 10.1038/ejhg.2012.76. Epub 2012 Apr 25. Eur J Hum Genet. 2012. PMID: 22535186 Free PMC article.

3

Late-onset spinal motor neuronopathy - a common form of dominant SMA.

Penttilä S, Jokela M, Huovinen S, Saukkonen AM, Toivanen J, Lindberg C, Baumann P, Udd B. Penttilä S, et al. Among authors: jokela m. Neuromuscul Disord. 2014 Mar;24(3):259-68. doi: 10.1016/j.nmd.2013.11.010. Epub 2013 Nov 26. Neuromuscul Disord. 2014. PMID: 24360573

4

Spontaneous activity in electromyography may differentiate certain benign lower motor neuron disease forms from amyotrophic lateral sclerosis.

Jokela ME, Jääskeläinen SK, Sandell S, Palmio J, Penttilä S, Saukkonen A, Soikkeli R, Udd B. Jokela ME, et al. J Neurol Sci. 2015 Aug 15;355(1-2):143-6. doi: 10.1016/j.jns.2015.06.002. Epub 2015 Jun 3. J Neurol Sci. 2015. PMID: 26059445

5

Reply: To PMID 25428574.

Jokela M, Penttilä S, Udd B. Jokela M, et al. Ann Neurol. 2015 Nov;78(5):831-2. doi: 10.1002/ana.24465. Epub 2015 Aug 31. Ann Neurol. 2015. PMID: 26095158 No abstract available.

6

Diagnostic Clinical, Electrodiagnostic and Muscle Pathology Features of Spinal and Bulbar Muscular Atrophy.

Jokela ME, Udd B. Jokela ME, et al. J Mol Neurosci. 2016 Mar;58(3):330-4. doi: 10.1007/s12031-015-0684-5. Epub 2015 Nov 16. J Mol Neurosci. 2016. PMID: 26572533 Review.

7

Towards a European Registry and Biorepository for Patients with Spinal and Bulbar Muscular Atrophy.

Pareyson D, Fratta P, Pradat PF, Sorarù G, Finsterer J, Vissing J, Jokela ME, Udd B, Ludolph AC, Sagnelli A, Weydt P. Pareyson D, et al. J Mol Neurosci. 2016 Mar;58(3):394-400. doi: 10.1007/s12031-015-0704-5. Epub 2016 Jan 7. J Mol Neurosci. 2016. PMID: 26744358

8

Distinct Muscle Biopsy Findings in Genetically Defined Adult-Onset Motor Neuron Disorders.

Jokela M, Huovinen S, Raheem O, Lindfors M, Palmio J, Penttilä S, Udd B. Jokela M, et al. PLoS One. 2016 Mar 21;11(3):e0151376. doi: 10.1371/journal.pone.0151376. eCollection 2016. PLoS One. 2016. PMID: 26999347 Free PMC article.

9

Evolving neuromuscular phenotype in a patient with a heterozygous CHCHD10 p.G66V mutation.

Jokela ME, Joutsa J, Udd B. Jokela ME, et al. J Neurol. 2016 Jul;263(7):1461-2. doi: 10.1007/s00415-016-8134-z. Epub 2016 May 13. J Neurol. 2016. PMID: 27177996 No abstract available.

10

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.

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