Found: 23
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Muscle computed tomography patterns in patients with the mitochondrial DNA mutation 3243A>G.
- Published in:
- Journal of Neurology, 2004, v. 251, n. 5, p. 556, doi. 10.1007/s00415-004-0363-x
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- Publication type:
- Article
Peripheral neuropathy in patients with the 3243A>G mutation in mitochondrial DNA.
- Published in:
- Journal of Neurology, 2003, v. 250, n. 2, p. 216, doi. 10.1007/s00415-003-0981-8
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- Publication type:
- Article
Molecular Epidemiology of Charcot-Marie-Tooth Disease in Northern Ostrobothnia, Finland: A Population-Based Study.
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- Neuroepidemiology, 2017, v. 49, n. 1/2, p. 34, doi. 10.1159/000478860
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- Article
Myocardial glucose uptake in patients with the m.3243A > G mutation in mitochondrial DNA.
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- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 1, p. 67, doi. 10.1007/s10545-015-9865-1
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- Publication type:
- Article
POLG1 p.R722H mutation associated with multiple mtDNA deletions and a neurological phenotype.
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- BMC Neurology, 2010, v. 10, p. 29, doi. 10.1186/1471-2377-10-29
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- Publication type:
- Article
A novel MTTT mutation m.15933G > A revealed in analysis of mitochondrial DNA in patients with suspected mitochondrial disease.
- Published in:
- BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0377-8
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- Publication type:
- Article
Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy.
- Published in:
- 2010
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- Publication type:
- journal article
Relative contribution of comorbid diseases to health-related quality of life in patients with Parkinson's disease.
- Published in:
- Journal of Patient-Reported Outcomes, 2024, v. 8, n. 1, p. 1, doi. 10.1186/s41687-024-00746-4
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- Publication type:
- Article
Variants p.Q1236H and p.E1143G in mitochondrial DNA polymerase gamma POLG1 are not associated with increased risk for valproate‐induced hepatotoxicity or pancreatic toxicity: A retrospective cohort study of patients with epilepsy.
- Published in:
- Epilepsia (Series 4), 2018, v. 59, n. 11, p. 2125, doi. 10.1111/epi.14568
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- Article
Mutation m.15923A>G in the MT-TT gene causes mild myopathy - case report of an adult-onset phenotype.
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- 2018
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- Publication type:
- journal article
Case report: a novel frameshift mutation in the mitochondrial cytochrome c oxidase II gene causing mitochondrial disorder.
- Published in:
- 2017
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- Publication type:
- journal article
Impact of age and sex on the efficacy of fremanezumab in patients with difficult-to-treat migraine: results of the randomized, placebo-controlled, phase 3b FOCUS study.
- Published in:
- Journal of Headache & Pain, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s10194-021-01336-1
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- Publication type:
- Article
Efficacy and safety of fremanezumab in patients with migraine and inadequate response to prior preventive treatment: subgroup analyses by country of a randomized, placebo-controlled trial.
- Published in:
- Journal of Headache & Pain, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s10194-021-01232-8
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- Publication type:
- Article
Amyloid myopathy: a diagnostic challenge.
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- Neurology International, 2009, v. 1, p. 24, doi. 10.4081/ni.2009.e7
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- Publication type:
- Article
Heterozygous SSBP1 start loss mutation co-segregates with hearing loss and the m.1555A>G mtDNA variant in a large multigenerational family.
- Published in:
- 2018
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- Publication type:
- journal article
Spectrum of myopathic findings in 50 patients with the 3243A>G mutation in mitochondrial DNA.
- Published in:
- Brain: A Journal of Neurology, 2005, v. 128, n. 8, p. 1861
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- Publication type:
- Article
Atypical phenotypes in titinopathies explained by second titin mutations.
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- Annals of Neurology, 2014, v. 75, n. 2, p. 230, doi. 10.1002/ana.24102
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- Publication type:
- Article
Status epilepticus in POLG disease: a large multinational study.
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- Journal of Neurology, 2024, v. 271, n. 8, p. 5156, doi. 10.1007/s00415-024-12463-5
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- Publication type:
- Article
A novel mutation of myelin protein zero associated with late-onset predominantly axonal Charcot-Marie-Tooth disease.
- Published in:
- Journal of Neurology, 2012, v. 259, n. 8, p. 1585, doi. 10.1007/s00415-011-6382-5
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- Publication type:
- Article
Novel compound heterozygous mutation in SACS gene leads to a milder autosomal recessive spastic ataxia of Charlevoix-Saguenay, ARSACS, in a Finnish family.
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- Clinical Case Reports, 2016, v. 4, n. 12, p. 1151, doi. 10.1002/ccr3.722
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- Article
Feasibility and patient acceptability of a commercially available wearable and a smart phone application in identification of motor states in parkinson's disease.
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- PLoS Digital Health, 2023, v. 1, n. 4, p. 1, doi. 10.1371/journal.pdig.0000225
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- Publication type:
- Article
Validation of the Finnish Version of the Unified Dyskinesia Rating Scale.
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- European Neurology, 2021, v. 84, n. 6, p. 444, doi. 10.1159/000517369
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- Publication type:
- Article
Screening for Fabry disease and Hereditary ATTR amyloidosis in idiopathic small-fiber and mixed neuropathy.
- Published in:
- 2019
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- Publication type:
- journal article