H. Tyynismaa

IP3 receptor depletion in a spontaneous canine model of Charcot-Marie-Tooth disease 1J with amelogenesis imperfecta
20250 citationsauthor #11
Metabolic costs and trade-offs of hypermetabolism in human motor neurons with ATP synthase deficiency
20251 citationsauthor #9
Dose-dependent CHCHD10 dysregulation dictates motor neuron disease severity and alters creatine metabolism
20251 citationsauthor #25
Integrated transcriptomic analysis reveals metabolic remodeling and gene expression networks related to human 8-cell-stage embryo-like cells.
20250 citationsauthor #6
Parents may prefer prognostic uncertainty about their child's genetic neurodevelopmental condition
20241 citationsauthor #1
Preferential binding of ADP‐bound mitochondrial HSP70 to the nucleotide exchange factor GRPEL1 over GRPEL2
20245 citationsauthor #6
Advances and challenges in modeling inherited peripheral neuropathies using iPSCs
202416 citationsauthor #12
IP3 receptor depletion in a spontaneous canine model of Charcot-Marie-Tooth disease 1J with amelogenesis imperfecta
20240 citationsauthor #11
AARS Online: A collaborative database on the structure, function, and evolution of the aminoacyl‐tRNA synthetases
202411 citationsauthor #5
Human IP3 receptor triple knockout stem cells remain pluripotent despite altered mitochondrial metabolism.
20237 citationsauthor #11
Variants in tropomyosins TPM2 and TPM3 causing muscle hypertonia.
20235 citationsauthor #4
Rare PMP22 variants in mild to severe neuropathy uncorrelated to plasma GDF15 or neurofilament light
20233 citationsauthor #8
Disease models of mitochondrial aminoacyl‐tRNA synthetase defects
20234 citationsauthor #1
The Finnish genetic heritage in 2022 – from diagnosis to translational research
202228 citationsauthor #14
Neurofilament Light Regulates Axon Caliber, Synaptic Activity, and Organelle Trafficking in Cultured Human Motor Neurons
202244 citationsauthor #15
Comparative whole-genome transcriptome analysis in renal cell populations reveals high tissue specificity of MAPK/ERK targets in embryonic kidney
20229 citationsauthor #11
Serum Creatine, Not Neurofilament Light, Is Elevated in CHCHD10-Linked Spinal Muscular Atrophy
20225 citationsauthor #12
Structural insights into Charcot–Marie–Tooth disease‐linked mutations in human GDAP1
20226 citationsauthor #7
Inter-organellar and systemic responses to impaired mitochondrial matrix protein import in skeletal muscle
202217 citationsauthor #9
Small mitochondrial protein NERCLIN regulates cardiolipin homeostasis and mitochondrial ultrastructure
20215 citationsauthor #13
Threshold of heteroplasmic truncating MT-ATP6 mutation in reprogramming, Notch hyperactivation and motor neuron metabolism
202117 citationsauthor #16
Enhanced cGAS-STING-dependent interferon signaling associated with mutations in ATAD3A
202123 citationsauthor #25
Severe neonatal MEGDHEL syndrome with a homozygous truncating mutation in SERAC1.
20217 citationsauthor #6
Peripheral neuropathy linked mRNA export factor GANP reshapes gene regulation in human motor neurons
20210 citationsauthor #16
Enhanced cGAS-STING–dependent interferon signaling associated with mutations in ATAD3A
202161 citationsauthor #25
Metabolic determination of cell fate through selective inheritance of mitochondria
202176 citationsauthor #17
Effectiveness of clinical exome sequencing in adult patients with difficult‐to‐diagnose neurological disorders
202127 citationsauthor #10
Biallelic loss-of-function OBSCN variants predispose individuals to severe, recurrent rhabdomyolysis
202123 citationsauthor #23
Metabolic and muscle-derived serum biomarkers define CHCHD10-linked late-onset spinal muscular atrophy
20210 citationsauthor #12
Dominant mutations in ITPR3 cause Charcot‐Marie‐Tooth disease
202022 citationsauthor #16
Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content
20207 citationsauthor #28
A patient with pontocerebellar hypoplasia type 6: Novel RARS2 mutations, comparison to previously published patients and clinical distinction from PEHO syndrome.
202013 citationsauthor #10
ALS and Parkinson's disease genes CHCHD10 and CHCHD2 modify synaptic transcriptomes in human IPSC-derived motor neurons.
202028 citationsauthor #14
Attitudes towards genetic testing and information: does parenthood shape the views?
202011 citationsauthor #10
LATE BREAKING NEWS E-POSTER PRESENTATION
20200 citationsauthor #16
Attitudes towards genetic testing and information: does parenthood shape the views?
20200 citationsauthor #10
De novo SPTAN1 mutation in axonal sensorimotor neuropathy and developmental disorder.
20209 citationsauthor #6
TRIM2, a novel member of the antiviral family, limits New World arenavirus entry
201925 citationsauthor #8
A Metabolic Vulnerability of Vision.
20192 citationsauthor #1
Chchd10 or Chchd2 are not Required for Human Motor Neuron Differentiation In Vitro but Modify Synaptic Transcriptomes
20190 citationsauthor #13
Screening for Fabry disease and Hereditary ATTR amyloidosis in idiopathic small‐fiber and mixed neuropathy
201815 citationsauthor #6
Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy
201826 citationsauthor #19
Redox regulation of GRPEL2 nucleotide exchange factor for mitochondrial HSP70 chaperone
201831 citationsauthor #12
Clinical, biochemical, and genetic features associated with VARS2‐related mitochondrial disease
201827 citationsauthor #12
Loss of MICOS complex integrity and mitochondrial damage, but not TDP-43 mitochondrial localisation, are likely associated with severity of CHCHD10-related diseases.
201861 citationsauthor #13
MYOFIBRILLAR AND DISTAL MYOPATHIES
20180 citationsauthor #11
MCM3AP in recessive axonal neuropathy and mild intellectual disability
20180 citationsauthor #28
Reply: A novel MCM3AP mutation in a Lebanese family with recessive Charcot-Marie-Tooth neuropathy.
20184 citationsauthor #3
Analysis of Mitochondrial Protein Synthesis: De Novo Translation, Steady‐State Levels, and Assembled OXPHOS Complexes
20183 citationsauthor #4
Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy
201820 citationsauthor #15
MYOFIBRILLAR AND DISTAL MYOPATHIES
20180 citationsauthor #11
MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability
201735 citationsauthor #29
Clinical and metabolic consequences of L-serine supplementation in hereditary sensory and autonomic neuropathy type 1C
201732 citationsauthor #6
ATPase-deficient mitochondrial inner membrane protein ATAD3A disturbs mitochondrial dynamics in dominant hereditary spastic paraplegia
201782 citationsauthor #16
Adrenomyeloneuropathy due to mutation in the ABCD1 gene as underlying factor in spastic paraparesis.
20170 citationsauthor #5
Editing activity for eliminating mischarged tRNAs is essential in mammalian mitochondria
201737 citationsauthor #10
P.336 - MNDcap gene panel as a diagnostic tool in motor neuron disorders
20170 citationsauthor #6
CHCHD10 mutations and motor neuron disease: the distribution in Finnish patients
201622 citationsauthor #11
Mitochondrial DNA Replication Defects Disturb Cellular dNTP Pools and Remodel One-Carbon Metabolism.
2016261 citationsauthor #21
Unique Exercise Lactate Profile in Muscle Phosphofructokinase Deficiency (Tarui Disease); Difference Compared with McArdle Disease
201610 citationsauthor #9
Splicing Defect in Mitochondrial Seryl‐tRNA Synthetase Gene Causes Progressive Spastic Paresis Instead of HUPRA Syndrome
201625 citationsauthor #5
Intrafamilial clinical variability in individuals carrying the CHCHD10 mutation Gly66Val
201627 citationsauthor #11
Truncated HSPB1 causes axonal neuropathy and impairs tolerance to unfolded protein stress
201528 citationsauthor #9
PFKM gene defect and glycogen storage disease GSDVII with misleading enzyme histochemistry
201512 citationsauthor #10
CHCHD10 variant p.(Gly66Val) causes axonal Charcot-Marie-Tooth disease
201582 citationsauthor #7
Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia
201552 citationsauthor #7
Exposure to arginine analog canavanine induces aberrant mitochondrial translation products, mitoribosome stalling, and instability of the mitochondrial proteome.
201521 citationsauthor #6
The Variant p.(Arg183Trp) in SPTLC2 Causes Late-Onset Hereditary Sensory Neuropathy
201522 citationsauthor #13
Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylation
201545 citationsauthor #13
De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy
2015140 citationsauthor #20
Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate
201555 citationsauthor #21
Overexpression of TFAM or Twinkle Increases mtDNA Copy Number and Facilitates Cardioprotection Associated with Limited Mitochondrial Oxidative Stress
2015128 citationsauthor #7
Generating Mouse Models of Mitochondrial Disease
20151 citationsauthor #2
Mitochondrial EFTs defects in juvenile-onset Leigh disease, ataxia, neuropathy, and optic atrophy
201436 citationsauthor #10
Mixing and matching mitochondrial aminoacyl synthetases and their tRNAs: a new way to treat respiratory chain disorders?
201413 citationsauthor #1
O44 – 1703 Deficiency of the E3 ubiquitin ligase TRIM2 causes early-onset axonal neuropathy
20130 citationsauthor #6
Dominant GDAP1 founder mutation is a common cause of axonal Charcot-Marie-Tooth disease in Finland
20130 citationsauthor #6
Molecular Genetics and Metabolism
20130 citationsauthor #2
The Increase of Mitochondrial DNA Copy Number Attenuates Eccentric Cardiac Remodeling In Volume Overload Model
20130 citationsauthor #11
Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy
2013103 citationsauthor #12
Targeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot–Marie–Tooth neuropathy and a mutation in HSPB1
201332 citationsauthor #8
Mitochondrial aminoacyl-tRNA synthetases in human disease.
2013154 citationsauthor #2
The Overexpression of Twinkle Helicase Ameliorates the Progression of Cardiac Fibrosis and Heart Failure in Pressure Overload Model in Mice
201323 citationsauthor #9
Guse Capsid-modified adenoviral vectors for muscle-directed gene therapy Hum Gene Ther 2012
20130 citationsauthor #5
Mitochondrial Aminoacyl-tRNA Synthetases
20132 citationsauthor #1
Deficiency of the E3 ubiquitin ligase TRIM2 in early-onset axonal neuropathy.
201386 citationsauthor #9
Dominant GDAP1 founder mutation is a common cause of axonal Charcot-Marie-Tooth disease in Finland
201333 citationsauthor #6
Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy.
2012162 citationsauthor #14
Capsid-Modified Adenoviral Vectors for Improved Muscle-Directed Gene Therapy
201224 citationsauthor #5
Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions.
2012102 citationsauthor #1
Somatic progenitor cell vulnerability to mitochondrial DNA mutagenesis underlies progeroid phenotypes in Polg mutator mice.
2012236 citationsauthor #11
Liver fat but not other adiposity measures influence circulating FGF21 levels in healthy young adult twins.
201166 citationsauthor #1
Serum angiopoietin-like 4 protein levels and expression in adipose tissue are inversely correlated with obesity in monozygotic twins
201167 citationsauthor #4
SERUM LEVELS OF ANGIOPOIETIN-LIKE PROTEIN 4 (ANGPTL4) ARE INVERSELY CORRELATED WITH OBESITY IN HEALTHY YOUNG ADULT TWINS
20110 citationsauthor #3
Comparison of solution-based exome capture methods for next generation sequencing
2011285 citationsauthor #8
Disrupted somatic stem cell homeostasis in mice with mitochondrial DNA mutagenesis and premature aging
20110 citationsauthor #5
FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study.
2011402 citationsauthor #25
Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy.
2011257 citationsauthor #2
Mitochondrial myopathy induces a starvation-like response.
2010315 citationsauthor #1
Mouse models of mtDNA replication diseases.
201015 citationsauthor #1

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