Manu Jokela
MD, PhD, neurologist
neuromuscular disorders
motor neuron diseases, myopathies, neurogenetics, neuromuscular disorders
- Oligogenic basis of sporadic ALS The example of SOD1 p.Ala90Val mutation (2019)
- Neurology-Genetics
- Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy (2019)
- Journal of Neurology
- Särö-X-esimutaatio-oireyhtymä (FXTAS) - magneettikuvauksesta apua diagnosointiin (2019)
- Duodecim
- Kun katse jähmettyy - muista mitokondriotaudin mahdollisuus (2018)
- Duodecim
- Loss of MICOS complex integrity and mitochondrial damage, but not TDP-43 mitochondrial localisation, are likely associated with severity of CHCHD10-related diseases (2018)
- Neurobiology of Disease
- Botulinum toxin alleviates dysphagia of patients with inclusion body myositis (2017)
- Journal of the Neurological Sciences
- CHCHD10 mutations and motor neuron disease: the distribution in Finnish patients (2017)
- Journal of Neurology, Neurosurgery and Psychiatry
- Gluteus maximus hypertrophy: A diagnostic clue in four and a half LIM domain 1-mutated reducing body myopathy (2017)
- Neuromuscular Disorders
- Tulehdukselliset lihassairaudet eli myosiitit (2017)
- Duodecim
- Diagnostic Clinical, Electrodiagnostic and Muscle Pathology Features of Spinal and Bulbar Muscular Atrophy. (2016)
- Journal of Molecular Neuroscience
- Distinct Muscle Biopsy Findings in Genetically Defined Adult-Onset Motor Neuron Disorders (2016)
- PLoS ONE
- Evolving neuromuscular phenotype in a patient with a heterozygous CHCHD10 p.G66V mutation (2016)
- Journal of Neurology
- Painless legs and moving toes associated with acute axonal sensory polyneuropathy (2016)
- Basal Ganglia
- Towards a European Registry and Biorepository for Patients with Spinal and Bulbar Muscular Atrophy (2016)
- Journal of Molecular Neuroscience
- CHCHD10 mutations are not a common cause of SMN1-negative type III/IV spinal motor atrophy Reply (2015)
- Annals of Neurology
- Late-onset spinal motor neuronopathy- a new neuromuscular disease (2015) Jokela Manu
- Late onset spinal motor neuronopathy is caused by mutation in CHCHD10. (2015)
- Annals of Neurology
- Spontaneous activity in electromyography may differentiate certain benign lower motor neuron disease forms from amyotrophic lateral sclerosis (2015)
- Journal of the Neurological Sciences
- Late-onset spinal motor neuronopathy - a common form of dominant SMA. (2014)
- Neuromuscular Disorders
- Lihastautiepäily – kuinka tutkin ja diagnosoin? (2014)
- Lääkärilehti