Helena Pihko

Helsinki, 00290, Finland

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 12 publications

Mitochondrial encephalomyopathy and retinoblastoma explained by compound heterozygosity of SUCLA2 point mutation and 13q14 deletion.

Mitochondrial encephalomyopathy and retinoblastoma explained by compound heterozygosity of SUCLA2 point mutation and 13q14 deletion.

Journal: European journal of human genetics : EJHG

Published: February 10, 2017

ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss.

ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss.

Journal: Brain : a journal of neurology

Published: September 18, 2016

Absence of Hikeshi, a nuclear transporter for heat-shock protein HSP70, causes infantile hypomyelinating leukoencephalopathy.

Absence of Hikeshi, a nuclear transporter for heat-shock protein HSP70, causes infantile hypomyelinating leukoencephalopathy.

Journal: European journal of human genetics : EJHG

Published: August 18, 2016

Dysfunctional ADAM22 implicated in progressive encephalopathy with cortical atrophy and epilepsy.

Dysfunctional ADAM22 implicated in progressive encephalopathy with cortical atrophy and epilepsy.

Journal: Neurology. Genetics

Published: August 26, 2015

Novel mutations in DNAJB6 gene cause a very severe early-onset limb-girdle muscular dystrophy 1D disease.

Novel mutations in DNAJB6 gene cause a very severe early-onset limb-girdle muscular dystrophy 1D disease.

Journal: Neuromuscular disorders : NMD

Published: April 21, 2015

Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate.

Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate.

Journal: Neurology

Published: November 17, 2014

Mitochondrial EFTs defects in juvenile-onset Leigh disease, ataxia, neuropathy, and optic atrophy.

Mitochondrial EFTs defects in juvenile-onset Leigh disease, ataxia, neuropathy, and optic atrophy.

Journal: Neurology

Published: July 20, 2014

Mitochondrial encephalomyopathy and retinoblastoma explained by compound heterozygosity of SUCLA2 point mutation and 13q14 deletion.

Mitochondrial encephalomyopathy and retinoblastoma explained by compound heterozygosity of SUCLA2 point mutation and 13q14 deletion.

Journal: European journal of human genetics : EJHG

Published: March 13, 2014

A multicenter study on Leigh syndrome: disease course and predictors of survival.

A multicenter study on Leigh syndrome: disease course and predictors of survival.

Journal: Orphanet journal of rare diseases

Published: November 30, 2013

Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy.

Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy.

Journal: Journal of medical genetics

Published: January 15, 2013

Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy.

Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy.

Journal: Human molecular genetics

Published: July 27, 2012

Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts.

Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts.

Journal: American journal of human genetics

Published: December 12, 2011

Showing 1-12 of 12

Last Updated: 09/26/2026