M. Kärppä

发表

Atypical phenotypes in titinopathies explained by second titin mutations

I. Richard, B. Eymard, R. Rojas-García, 2014, Annals of neurology.

Epidemiology of the mitochondrial DNA 8344A>G mutation for the myoclonus epilepsy and ragged red fibres (MERRF) syndrome

K. Majamaa, I. Hassinen, S. Karvonen, 2003, Journal of neurology, neurosurgery, and psychiatry.

Cytoskeletal structure in cells harboring two mutations: R133C in NOTCH3 and 5650G>A in mitochondrial DNA.

S. Finnilä, K. Majamaa, J. Peltonen, 2007, Mitochondrion.

Hereditary myopathy with early respiratory failure: occurrence in various populations

F. Chapon, T. Raivio, J. Bueri, 2013, Journal of Neurology, Neurosurgery & Psychiatry.

Long-term effectiveness and safety of lemborexant in adults with insomnia disorder: results from a phase 3 randomized clinical trial.

Y. Inoue, J. Yardley, M. Moline, 2021, Sleep medicine.

Myocardial glucose uptake in patients with the m.3243A > G mutation in mitochondrial DNA

P. Iozzo, J. Knuuti, K. Majamaa, 2016, Journal of Inherited Metabolic Disease.

A novel mutation of myelin protein zero associated with late-onset predominantly axonal Charcot-Marie-Tooth disease

K. Majamaa, K. Huehne, B. Rautenstrauss, 2012, Journal of Neurology.

Peripheral neuropathy in patients with the 3243A>G mutation in mitochondrial DNA

K. Majamaa, U. Tolonen, M. Kärppä, 2003, Journal of Neurology.

Molecular Epidemiology of Charcot-Marie-Tooth Disease in Northern Ostrobothnia, Finland: A Population-Based Study

M. Hiltunen, S. Helisalmi, K. Majamaa, 2017, Neuroepidemiology.

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

G. Terwindt, A. Maassenvandenbrink, M. Galić, 2021, The Journal of Headache and Pain.

Parkinsonism associated with the homozygous W748S mutation in the POLG1 gene.

K. Majamaa, A. Remes, J. Uusimaa, 2008, Parkinsonism & related disorders.

Heterozygous SSBP1 start loss mutation co-segregates with hearing loss and the m.1555A>G mtDNA variant in a large multigenerational family

M. Minczuk, P. Chinnery, K. Majamaa, 2017, Brain : a journal of neurology.

Myopathy and peripheral neuropathy associated with the 3243A>G mutation in mitochondrial DNA

M. Kärppä, 2004 .

Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population.

K. Majamaa, I. Hassinen, P. Salmela, 1998, American journal of human genetics.

Child with Alpers-huttenlocher-like Disease a Mutation in Mitochondrial Dna-encoded Cytochrome C Oxidase Ii Gene in A

S. Finnilä, K. Majamaa, I. Hassinen, 2022 .

Case report: a novel frameshift mutation in the mitochondrial cytochrome c oxidase II gene causing mitochondrial disorder

K. Majamaa, Markku Saari, J. Uusimaa, 2017, BMC Neurology.

Amyloid myopathy: a diagnostic challenge

A. Remes, H. Tuominen, M. Kärppä, 2009, Neurology international.

The common MELAS mutation A3243G in mitochondrial DNA among young patients with an occipital brain infarct

K. Majamaa, I. Hassinen, J. Turkka, 1997, Neurology.

A 3-year clinical follow-up of adult patients with 3243A>G in mitochondrial DNA

K. Majamaa, U. Tolonen, K. Peuhkurinen, 2006, Neurology.

Spectrum of myopathic findings in 50 patients with the 3243A>G mutation in mitochondrial DNA.

K. Majamaa, A. Oldfors, R. Herva, 2005, Brain : a journal of neurology.

Muscle computed tomography patterns in patients with the mitochondrial DNA mutation 3243A>G

K. Majamaa, U. Tolonen, A. Karttunen, 2004, Journal of Neurology.

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

U. Reuter, Ronghua Yang, E. Spierings, 2021, The Journal of Headache and Pain.

POLG1 p.R722H mutation associated with multiple mtDNA deletions and a neurological phenotype

S. Finnilä, K. Majamaa, I. Hassinen, 2010, BMC neurology.

Long-term efficacy and tolerability of lemborexant compared with placebo in adults with insomnia disorder: results from the phase 3 randomized clinical trial SUNRISE 2

G. Zammit, Y. Inoue, J. Yardley, 2020, Sleep.

Prevalence of large-scale mitochondrial DNA deletions in an adult Finnish population

K. Majamaa, I. Hassinen, P. Salmela, 2005, Neurology.

Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy.

Bethan E. Hoskins, D. Seelow, H. Prokisch, 2010, The Journal of clinical investigation.

Efficacy and Safety of Lemborexant in Elderly Subjects with Insomnia Disorder: Pooled Analyses from SUNRISE-1 and SUNRISE-2 (1860)

G. Zammit, J. Yardley, M. Moline, 2020 .

Long-term effectiveness and safety of lemborexant in adults with insomnia disorder: 12-month results from sunrise-2

Y. Inoue, J. Yardley, M. Moline, 2019 .

Novel compound heterozygous mutation in SACS gene leads to a milder autosomal recessive spastic ataxia of Charlevoix‐Saguenay, ARSACS, in a Finnish family

B. Udd, J. Palmio, J. Moilanen, 2016, Clinical case reports.

Mutation m.15923A>G in the MT-TT gene causes mild myopathy – case report of an adult-onset phenotype

K. Majamaa, Markku Saari, M. Kärppä, 2018, BMC Neurology.

Validation of the Finnish Version of the Unified Dyskinesia Rating Scale

E. Pekkonen, M. Martikainen, G. Stebbins, 2021, European Neurology.

A novel MTTT mutation m.15933G > A revealed in analysis of mitochondrial DNA in patients with suspected mitochondrial disease

K. Majamaa, J. Uusimaa, J. Moilanen, 2017, BMC Medical Genetics.

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

L. Haataja, K. Majamaa, P. Myllynen, 2018, Epilepsia.

Screening for Fabry disease and hereditary ATTR amyloidosis in idiopathic small fiber and mixed neuropathy

S. Mellgren, A. Radovic, A. Hietaharju, 2019, Molecular Genetics and Metabolism.

Screening for Fabry disease and Hereditary ATTR amyloidosis in idiopathic small‐fiber and mixed neuropathy

S. Mellgren, A. Radovic, A. Hietaharju, 2018, Muscle & nerve.

Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy (Journal of Clinical Investigation (2010) 120, 3 (791-802) DOI: 10.1172/JCI40076)

Bethan E. Hoskins, D. Seelow, H. Prokisch, 2010 .

A mutation in mitochondrial DNA-encoded cytochrome c oxidase II gene in a child with Alpers-Huttenlocher-like disease.

S. Finnilä, K. Majamaa, I. Hassinen, 2003, Pediatrics.

Feasibility and patient acceptability of a commercially available wearable and a smart phone application in identification of motor states in parkinson’s disease

U. Pesonen, E. Pekkonen, J. Sinkkonen, 2023, PLOS digital health.