List of works - Emil Ylikallio

A heterozygous truncating mutation in RRM2B causes autosomal-dominant progressive external ophthalmoplegia with multiple mtDNA deletions

scientific article published on 06 August 2009

ATPase-deficient mitochondrial inner membrane protein ATAD3A disturbs mitochondrial dynamics in dominant hereditary spastic paraplegia

scientific article

Absence of NEFL in patient-specific neurons in early-onset Charcot-Marie-Tooth neuropathy.

scientific article published on 5 June 2018

Adrenomyeloneuropathy due to mutation in the ABCD1 gene as underlying factor in spastic paraparesis

scientific article published in January 2017

CHCHD10 mutations and motor neuron disease: the distribution in Finnish patients

scientific article published on 03 November 2016

CHCHD10 variant p.(Gly66Val) causes axonal Charcot-Marie-Tooth disease

scientific article published on 26 March 2015

Clinical and metabolic consequences of L-serine supplementation in hereditary sensory and autonomic neuropathy type 1C.

scientific article published on 17 October 2017

Deficiency of the E3 ubiquitin ligase TRIM2 in early-onset axonal neuropathy

scientific article published on 4 April 2013

Dominant GDAP1 founder mutation is a common cause of axonal Charcot-Marie-Tooth disease in Finland

scientific article published on 03 March 2013

Dominant mutations in ITPR3 cause Charcot-Marie-Tooth disease

scientific article published on 19 September 2020

Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia

scientific article

High mitochondrial DNA copy number has detrimental effects in mice

scientific article published on 22 April 2010

Intrafamilial clinical variability in individuals carrying the CHCHD10 mutation Gly66Val.

scientific article published on 30 July 2015

Loss of MICOS complex integrity and mitochondrial damage, but not TDP-43 mitochondrial localisation, are likely associated with severity of CHCHD10-related diseases

scientific article published on 06 August 2018

MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability

scientific article published on 19 June 2017

Mechanisms of mitochondrial diseases

scientific article published on 02 August 2011

Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice

scientific article

PFKM gene defect and glycogen storage disease GSDVII with misleading enzyme histochemistry

scientific article published on 4 June 2015

Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy

scientific article published on 04 December 2018

Reply: A novel MCM3AP mutation in a Lebanese family with recessive Charcot-Marie-Tooth neuropathy

scientific article published on 01 September 2018

Ribonucleotide reductase is not limiting for mitochondrial DNA copy number in mice

scientific article

Rivaroxaban or aspirin for patent foramen ovale and embolic stroke of undetermined source: a prespecified subgroup analysis from the NAVIGATE ESUS trial

scientific article published in September 2018

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

scientific article published on 04 December 2018

Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate

scientific article published on 26 June 2015

Targeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot-Marie-Tooth neuropathy and a mutation in HSPB1.

scientific article published on 21 August 2013

The Variant p.(Arg183Trp) in SPTLC2 Causes Late-Onset Hereditary Sensory Neuropathy

scientific article published on 16 November 2015

The overexpression of Twinkle helicase ameliorates the progression of cardiac fibrosis and heart failure in pressure overload model in mice

scientific article

Threshold of heteroplasmic truncating MT-ATP6 mutation in reprogramming, Notch hyperactivation and motor neuron metabolism

scientific article published on 01 March 2022

Truncated HSPB1 causes axonal neuropathy and impairs tolerance to unfolded protein stress

scientific article

Unique Exercise Lactate Profile in Muscle Phosphofructokinase Deficiency (Tarui Disease); Difference Compared with McArdle Disease

scientific article published on 30 May 2016

List of works by Emil Ylikallio

A heterozygous truncating mutation in RRM2B causes autosomal-dominant progressive external ophthalmoplegia with multiple mtDNA deletions

ATPase-deficient mitochondrial inner membrane protein ATAD3A disturbs mitochondrial dynamics in dominant hereditary spastic paraplegia

Absence of NEFL in patient-specific neurons in early-onset Charcot-Marie-Tooth neuropathy.

Adrenomyeloneuropathy due to mutation in the ABCD1 gene as underlying factor in spastic paraparesis

CHCHD10 mutations and motor neuron disease: the distribution in Finnish patients

CHCHD10 variant p.(Gly66Val) causes axonal Charcot-Marie-Tooth disease

Clinical and metabolic consequences of L-serine supplementation in hereditary sensory and autonomic neuropathy type 1C.

Deficiency of the E3 ubiquitin ligase TRIM2 in early-onset axonal neuropathy

Dominant GDAP1 founder mutation is a common cause of axonal Charcot-Marie-Tooth disease in Finland

Dominant mutations in ITPR3 cause Charcot-Marie-Tooth disease

Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia

High mitochondrial DNA copy number has detrimental effects in mice

Intrafamilial clinical variability in individuals carrying the CHCHD10 mutation Gly66Val.

Loss of MICOS complex integrity and mitochondrial damage, but not TDP-43 mitochondrial localisation, are likely associated with severity of CHCHD10-related diseases

MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability

Mechanisms of mitochondrial diseases

Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice

PFKM gene defect and glycogen storage disease GSDVII with misleading enzyme histochemistry

Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy

Reply: A novel MCM3AP mutation in a Lebanese family with recessive Charcot-Marie-Tooth neuropathy

Ribonucleotide reductase is not limiting for mitochondrial DNA copy number in mice

Rivaroxaban or aspirin for patent foramen ovale and embolic stroke of undetermined source: a prespecified subgroup analysis from the NAVIGATE ESUS trial

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

Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate

Targeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot-Marie-Tooth neuropathy and a mutation in HSPB1.

The Variant p.(Arg183Trp) in SPTLC2 Causes Late-Onset Hereditary Sensory Neuropathy

The overexpression of Twinkle helicase ameliorates the progression of cardiac fibrosis and heart failure in pressure overload model in mice

Threshold of heteroplasmic truncating MT-ATP6 mutation in reprogramming, Notch hyperactivation and motor neuron metabolism

Truncated HSPB1 causes axonal neuropathy and impairs tolerance to unfolded protein stress

Unique Exercise Lactate Profile in Muscle Phosphofructokinase Deficiency (Tarui Disease); Difference Compared with McArdle Disease

[The many faces of neurosyphilis]