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Lista de obras de Rita Horvath

175th ENMC International Workshop: Mitochondrial protein synthesis in health and disease, 25–27th June 2010, Naarden, The Netherlands

article

A Mutation in the Flavin Adenine Dinucleotide-Dependent Oxidoreductase FOXRED1 Results in Cell-Type-Specific Assembly Defects in Oxidative Phosphorylation Complexes I and II.

artículo científico publicado en 2016

A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs)

artículo científico publicado en 2019

A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy

artículo científico publicado en 2012

A novel de novo STXBP1 mutation is associated with mitochondrial complex I deficiency and late-onset juvenile-onset parkinsonism

artículo científico publicado en 2014

A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies

artículo científico publicado en 2018

A novel mitochondrial MTND5 frameshift mutation causing isolated complex I deficiency, renal failure and myopathy

artículo científico publicado en 2009

A variable neurodegenerative phenotype with polymerase gamma mutation.

artículo científico publicado en 2009

AMACR mutations cause late-onset autosomal recessive cerebellar ataxia

artículo científico publicado en 2011

ANO10 mutations cause ataxia and coenzyme Q₁₀ deficiency

artículo científico publicado en 2014

AP4 deficiency: A novel form of neurodegeneration with brain iron accumulation?

artículo científico publicado en 2018

ATP synthase deficiency due to TMEM70 mutation leads to ultrastructural mitochondrial degeneration and is amenable to treatment

artículo científico publicado en 2015

Abnormal neurological features predict poor survival and should preclude liver transplantation in patients with deoxyguanosine kinase deficiency

artículo científico publicado en 2008

Abnormal retinal thickening is a common feature among patients with ARSACS-related phenotypes

artículo científico publicado en 2014

Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy

artículo científico publicado en 2016

Accurate mitochondrial DNA sequencing using off-target reads provides a single test to identify pathogenic point mutations

artículo científico publicado en 2014

Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU mutations

scholarly article by Ulrike Schara et al published 10 December 2010 in Journal of Inherited Metabolic Disease

Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3.

artículo científico publicado en 2011

Adult-onset glycogen storage disease type 2: clinico-pathological phenotype revisited

artículo científico publicado en 2007

Adult-onset spinocerebellar ataxia syndromes due to MTATP6 mutations

artículo científico publicado en 2012

Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics.

artículo científico publicado en 2012

Altered 2-thiouridylation impairs mitochondrial translation in reversible infantile respiratory chain deficiency

artículo científico publicado en 2013

Altered RNA metabolism due to a homozygous RBM7 mutation in a patient with spinal motor neuropathy

artículo científico publicado en 2016

Altered cerebral glucose metabolism in a family with clinical features resembling mitochondrial neurogastrointestinal encephalomyopathy syndrome in association with multiple mitochondrial DNA deletions

artículo científico publicado en 2008

Amyloid-β in mitochondrial disease: mutation in a human metallopeptidase links amyloidotic neurodegeneration with mitochondrial processing

artículo científico publicado en 2016

An Unusual Retinal Phenotype Associated With a Mutation in Sterol Carrier Protein SCP2.

artículo científico publicado en 2016

An under-recognised cause of spastic paraparesis in middle-aged women

artículo científico publicado en 2013

An unusual gait following the discovery of a new disease

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay in the Time of Next-Generation Sequencing—Reply

Autosomal recessive variants in alter the γ-tubulin ring complex leading to neurodevelopmental disease

artículo científico publicado en 2021

Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion

artículo científico publicado en 2020

Behr's Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the C12orf65 Gene

artículo científico publicado en 2014

Biomarkers predict outcome in Charcot-Marie-Tooth disease 1A.

artículo científico publicado en 2017

Both mitochondrial DNA and mitonuclear gene mutations cause hearing loss through cochlear dysfunction

artículo científico publicado en 2016

Brain iron takes off: a new propeller protein links neurodegeneration with autophagy ⬇️

artículo científico publicado el 14 de mayo de 2013

Characterization of human SCO1 and COX17 genes in mitochondrial cytochrome-c-oxidase deficiency.

artículo científico publicado en 2000

Charcot–Marie–Tooth disease in Northern England: Figure 1

article

Childhood presentation of “adult” polyglucosan body disease

artículo científico publicado en 2013

Chronic and slowly progressive weakness of the legs and hands

artículo científico publicado en 2014

Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT

artículo científico publicado en 2013

Clinical and neuropathological findings in patients with TACO1 mutations

artículo científico publicado en 2010

Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background

artículo científico publicado en 2007

Clinical heterogeneity of primary familial brain calcification due to a novel mutation in PDGFB.

artículo científico publicado en 2015

Clinical variability of early-onset congenital myasthenic syndrome due to biallelic RAPSN mutations in Brazil

scientific article published on 05 September 2018

Clinical, pathological and functional characterization of riboflavin-responsive neuropathy

artículo científico publicado en 2017

Clonal expansion of mtDNA deletions: different disease models assessed by digital droplet PCR in single muscle cells

artículo científico publicado en 2018

Clonal expansion of secondary mitochondrial DNA deletions associated with spinocerebellar ataxia type 28.

artículo científico publicado en 2015

Coenzyme Q10 deficiency and isolated myopathy.

artículo científico publicado en 2006

Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1).

scientific article published on 11 September 2009

Congenital cataract, muscular hypotonia, developmental delay and sensorineural hearing loss associated with a defect in copper metabolism.

artículo científico publicado en 2005

Consensus-based statements for the management of mitochondrial stroke-like episodes

artículo científico publicado en 2019

Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1).

artículo científico publicado en 2017

Cysteine Supplementation May be Beneficial in a Subgroup of Mitochondrial Translation Deficiencies

artículo científico publicado en 2016

De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome

scientific journal article

Deficiency of the mitochondrial phosphate carrier presenting as myopathy and cardiomyopathy in a family with three affected children.

artículo científico publicado en 2011

Demyelinating disease of central and peripheral nervous systems associated with a A8344G mutation in tRNALys

artículo científico publicado en 2009

Diagnosis of 'possible' mitochondrial disease: an existential crisis

scientific article published on 25 January 2019

Drosophila studies support a role for a presynaptic synaptotagmin mutation in a human congenital myasthenic syndrome.

artículo científico publicado en 2017

EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia

artículo científico publicado en 2014

Early-onset leukoencephalopathy due to a homozygous missense mutation in the DARS2 gene

artículo científico publicado en 2015

Electrophysiologic features of SYT2 mutations causing a treatable neuromuscular syndrome

artículo científico publicado en 2015

Emerging therapies for mitochondrial disorders

artículo científico publicado en 2016

Epilepsy in adults with mitochondrial disease: A cohort study.

artículo científico publicado en 2015

Erratum to: The neurological and ophthalmological manifestations of SPG4-related hereditary spastic paraplegia

artículo científico publicado en 2016

Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit

artículo científico publicado en 2006

Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)

artículo científico publicado en 2021

Exome sequencing in undiagnosed inherited and sporadic ataxias

artículo científico publicado en 2014

Exosomal Protein Deficiencies: How Abnormal RNA Metabolism Results in Childhood-Onset Neurological Diseases

artículo científico publicado en 2015

Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients

artículo científico publicado en 2013

Fatal neonatal-onset mitochondrial respiratory chain disease with T cell immunodeficiency.

artículo científico publicado en 2006

Fibroblast growth factor 21, a biomarker for mitochondrial muscle disease.

artículo científico publicado en 2013

Founder p.Arg 446* mutation in the PDHX gene explains over half of cases with congenital lactic acidosis in Roma children.

artículo científico publicado en 2014

Fragiles X-assoziiertes Tremor-/Ataxie-Syndrom

artículo científico publicado en 2009

Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort

artículo científico publicado en 2012

Frequency of rare recessive mutations in unexplained late onset cerebellar ataxia

artículo científico publicado en 2015

Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome

artículo científico publicado en 2005

Genetic heterogeneity of motor neuropathies

artículo científico publicado en 2017

Genetic variations within the OPA1 gene are not associated with neuromyelitis optica

artículo científico publicado en 2011

Genotype/phenotype correlations in AARS-related neuropathy in a cohort of patients from the United Kingdom and Ireland

artículo científico publicado en 2015

Gentamicin treatment in McArdle disease: Failure to correct myophosphorylase deficiency

artículo científico publicado en 2006

HADHA and HADHB gene associated phenotypes - Identification of rare variants in a patient cohort by Next Generation Sequencing

scientific article published on 22 January 2019

Hepatocerebral mitochondrial DNA depletion syndrome caused by deoxyguanosine kinase (DGUOK) mutations.

artículo científico publicado en 2006

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

artículo científico publicado en 2017

High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases

scientific article published on 01 May 2022

Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy

artículo científico publicado en 2001

Homozygous deletion in MICU1 presenting with fatigue and lethargy in childhood

artículo científico publicado en 2016

How can we treat mitochondrial encephalomyopathies? Approaches to therapy

artículo científico publicado en 2008

Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia

artículo científico publicado en 2017

Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder

artículo científico publicado en 2005

Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing

artículo científico publicado en 2010

In vitro supplementation with dAMP/dGMP leads to partial restoration of mtDNA levels in mitochondrial depletion syndromes

artículo científico publicado en 2009

In vitro supplementation with deoxynucleoside monophosphates rescues mitochondrial DNA depletion

artículo científico publicado en 2012

Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation

artículo científico publicado en 2012

Inherited neuropathies with predominant upper limb involvement: genetic heterogeneity and overlapping pathologies

scientific article published on 09 September 2020

Initial development and validation of a mitochondrial disease quality of life scale.

artículo científico publicado en 2013

Intersection of Proteomics and Genomics to "Solve the Unsolved" in Rare Disorders such as Neurodegenerative and Neuromuscular Diseases.

artículo científico publicado en 2017

Investigating the role of the physiological isoform switch of cytochrome c oxidase subunits in reversible mitochondrial disease

artículo científico publicado en 2015

LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood

artículo científico publicado en 2010

Late onset Pompe disease: Clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients

Late-onset ptosis and myopathy in a patient with a heterozygous insertion in POLG2.

artículo científico publicado en 2010

Late-onset respiratory failure due to TK2 mutations causing multiple mtDNA deletions.

artículo científico publicado en 2013

Late-onset sacsinopathy diagnosed by exome sequencing and comparative genomic hybridization

artículo científico publicado en 2013

Leigh syndrome caused by mutations in the flavoprotein (Fp) subunit of succinate dehydrogenase (SDHA)

artículo científico publicado en 2006

Lifetime exercise intolerance with lactic acidosis as key manifestation of novel compound heterozygous ACAD9 mutations causing complex I deficiency

artículo científico publicado en 2017

Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation

artículo científico publicado en 2010

MFN2 mutations cause compensatory mitochondrial DNA proliferation

artículo científico publicado en 2012

MFN2 mutations in Charcot-Marie-Tooth disease alter mitochondria-associated ER membrane function but do not impair bioenergetics

scientific article published on 01 June 2019

Metabolic effects of bezafibrate in mitochondrial disease

artículo científico publicado en 2020

Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency

artículo científico publicado en 2020

Metabolic stroke in childhood: Diagnostic approach and suggestions for therapy

MitoPhen database: a human phenotype ontology-based approach to identify mitochondrial DNA diseases

artículo científico publicado en 2021

Mitochondria: impaired mitochondrial translation in human disease

artículo científico publicado en 2014

Mitochondrial DNA deletions in muscle satellite cells: implications for therapies

artículo científico publicado en 2013

Mitochondrial DNA depletion and fatal infantile hepatic failure due to mutations in the mitochondrial polymerase γ (POLG) gene: a combined morphological/enzyme histochemical and immunocytochemical/biochemical and molecular genetic study

artículo científico publicado en 2011

Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck

artículo científico publicado en 2016

Mitochondrial DNA transcription and translation: clinical syndromes

artículo científico publicado en 2018

Mitochondrial aging is accelerated by anti-retroviral therapy through the clonal expansion of mtDNA mutations

artículo científico publicado en 2011

Mitochondrial and nuclear disease panel (Mito-aND-Panel): Combined sequencing of mitochondrial and nuclear DNA by a cost-effective and sensitive NGS-based method

artículo científico publicado en 2018

Mitochondrial dysfunction in liver failure requiring transplantation

artículo científico publicado en 2016

Mitochondrial myopathies: developments in treatment

artículo científico publicado en 2010

Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease

artículo científico publicado en 2018

Mitochondrial pathology in progressive cerebellar ataxia

artículo científico publicado en 2015

Mitochondriale Erkrankungen

Modifying Mitochondrial tRNAs: Delivering What the Cell Needs

artículo científico publicado en 2015

Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy

artículo científico publicado en 2009

Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease

scientific article published on 01 November 2019

Monitoring clinical progression with mitochondrial disease biomarkers

artículo científico publicado en 2017

Multi-system neurological disease is common in patients with OPA1 mutations

artículo científico publicado en 2010

Multifocal demyelinating motor neuropathy and hamartoma syndrome associated with a de novo PTEN mutation

artículo científico publicado en 2018

Multiple acyl-coenzyme A dehydrogenase deficiency shows a possible founder effect and is the most frequent cause of lipid storage myopathy in Iran

artículo científico publicado en 2020

Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutation

artículo científico publicado en 2012

Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome.

artículo científico publicado en 2009

Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9.

artículo científico publicado en 2011

Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency

artículo científico publicado en 2003

Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing

scientific article published on 18 June 2019

Mutations in glycyl-tRNA-synthetase impair mitochondrial metabolism in neurons

artículo científico publicado en 2018

Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission

artículo científico publicado en 2014

Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance

artículo científico publicado en 2014

NDUFS8-related Complex I Deficiency Extends Phenotype from "PEO Plus" to Leigh Syndrome

artículo científico publicado en 2012

Near-identical segregation of mtDNA heteroplasmy in blood, muscle, urinary epithelium, and hair follicles in twins with optic atrophy, ptosis, and intractable epilepsy.

artículo científico publicado en 2013

Neuromuscular Junction Changes in a Mouse Model of Charcot-Marie-Tooth Disease Type 4C ⬇️

artículo científico publicado en 2018

New treatments for mitochondrial disease-no time to drop our standards

artículo científico publicado en 2013

Novel SBF2 mutations and clinical spectrum of Charcot-Marie-Tooth neuropathy type 4B2

scientific article published on 14 August 2018

Novel genetic and neuropathological insights in neurogenic muscle weakness, ataxia, and retinitis pigmentosa (NARP).

artículo científico publicado en 2016

Novel homozygous RARS2 mutation in two siblings without pontocerebellar hypoplasia - further expansion of the phenotypic spectrum

artículo científico publicado en 2016

Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency

artículo científico publicado en 2010

Nuclear-mitochondrial proteins: too much to process?

artículo científico publicado en 2015

Nucleoside supplementation modulates mitochondrial DNA copy number in the dguok -/- zebrafish

scientific article published on 01 March 2019

OPA1 IN MULTIPLE MITOCHONDRIAL DNA DELETION DISORDERS

artículo científico publicado en 2008

OPA1 mutations cause cytochrome c oxidase deficiency due to loss of wild-type mtDNA molecules

artículo científico publicado en 2010

OPA1 mutations induce mtDNA proliferation in leukocytes of patients with dominant optic atrophy

artículo científico publicado en 2012

POLG mutations cause decreased mitochondrial DNA repopulation rates following induced depletion in human fibroblasts.

artículo científico publicado en 2010

Parkinson syndrome, neuropathy, and myopathy caused by the mutation A8344G (MERRF) in tRNALys

artículo científico publicado en 2007

Pathogenic mtDNA mutations causing mitochondrial myopathy: The need for muscle biopsy.

artículo científico publicado en 2016

Pathogenic variants in MT-ATP6: A United Kingdom-based mitochondrial disease cohort study

artículo científico publicado en 2019

Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

artículo científico publicado en 2017

Phenotypic convergence of Menkes and Wilson disease

artículo científico publicado en 2016

Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene

artículo científico publicado en 2006

Phenotypic variability of TRPV4 related neuropathies

artículo científico publicado en 2015

Polymerase γ gene POLG determines the risk of sodium valproate-induced liver toxicity

artículo científico publicado en 2010

Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model

artículo científico publicado en 2010

Prevalence of neurogenetic disorders in the North of England

artículo científico publicado en 2015

Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease

artículo científico publicado en 2015

Progressive brain iron accumulation in neuroferritinopathy measured by the thalamic T2* relaxation rate.

artículo científico publicado en 2012

Prominent sensorimotor neuropathy due to SACS mutations revealed by whole-exome sequencing

artículo científico publicado en 2012

RNA exosome mutations in pontocerebellar hypoplasia alter ribosome biogenesis and p53 levels

scientific article published on 11 June 2020

RRM2B mutations are frequent in familial PEO with multiple mtDNA deletions

artículo científico publicado en 2011

Recurrent stroke-like episodes in X-linked Charcot-Marie-Tooth disease

scientific article published on 07 September 2011

Reply: Evaluation of exome sequencing variation in undiagnosed ataxias

artículo científico publicado en 2015

Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain

artículo científico publicado en 2013

Reply: POLR3A variants in hereditary spastic paraplegia and ataxia

artículo científico publicado en 2017

Respiratory chain deficiency in nonmitochondrial disease

artículo científico publicado en 2015

Respiratory-chain deficiency presenting as diffuse mesangial sclerosis with NPHS3 mutation

artículo científico publicado en 2011

Response to Newman et al.

artículo científico publicado en 2017

Retrospective assessment of the most common mitochondrial DNA mutations in a large Hungarian cohort of suspect mitochondrial cases

artículo científico publicado en 2014

Reversible infantile mitochondrial diseases

artículo científico publicado en 2014

Reversion of hypertrophic cardiomyopathy in a patient with deficiency of the mitochondrial copper binding protein Sco2: is there a potential effect of copper?

artículo científico publicado en 2004

Revisiting mitochondrial diagnostic criteria in the new era of genomics

artículo científico publicado en 2017

Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency

artículo científico publicado en 2016

Risk of developing a mitochondrial DNA deletion disorder

artículo científico publicado en 2004

SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy

article

SCP2 mutations and neurodegeneration with brain iron accumulation

artículo científico publicado en 2015

SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy

artículo científico publicado en 2009

SIL1 deficiency causes degenerative changes of peripheral nerves and neuromuscular junctions in fish, mice and human

scientific article published on 20 November 2018

SPG7 mutations are a common cause of undiagnosed ataxia

artículo científico publicado en 2015

Safety and efficacy of deferiprone for pantothenate kinase-associated neurodegeneration: a randomised, double-blind, controlled trial and an open-label extension study

scientific article published on 01 July 2019

Salbutamol modifies the neuromuscular junction in a mouse model of ColQ myasthenic syndrome

artículo científico publicado en 2019

Sequence analysis of Hungarian LHON patients not carrying the common primary mutations

artículo científico publicado en 2002

Severe nemaline myopathy caused by mutations of the stop codon of the skeletal muscle alpha actin gene (ACTA1).

artículo científico publicado en 2006

Severe neurodevelopmental disease caused by a homozygous TLK2 variant

scientific article published on 01 March 2020

Store-Operated Ca2+ Entry Controls Induction of Lipolysis and the Transcriptional Reprogramming to Lipid Metabolism

artículo científico publicado en 2017

Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylation

artículo científico publicado en 2015

Synaptotagmin 2 Mutations Cause an Autosomal-Dominant Form of Lambert-Eaton Myasthenic Syndrome and Nonprogressive Motor Neuropathy

Synaptotagmin 2 mutations cause an autosomal-dominant form of lambert-eaton myasthenic syndrome and nonprogressive motor neuropathy

artículo científico publicado en 2014

The 2-thiouridylase function of the human MTU1 (TRMU) enzyme is dispensable for mitochondrial translation

artículo científico publicado en 2011

The Effect of Neurological Genomics and Personalized Mitochondrial Medicine.

artículo científico publicado en 2017

The Human Cytochrome c Oxidase Assembly Factors SCO1 and SCO2 Have Regulatory Roles in the Maintenance of Cellular Copper Homeostasis

article by Scot C. Leary et al published May 2007 in Cell Metabolism

The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO.

artículo científico publicado en 2010

The cloning and expression of a human creatine transporter

artículo científico publicado en 1994

The genotypic and phenotypic spectrum of MTO1 deficiency.

artículo científico publicado en 2017

The human cytochrome c oxidase assembly factors SCO1 and SCO2 have regulatory roles in the maintenance of cellular copper homeostasis

artículo científico publicado en 2007

The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene

artículo científico publicado en 2007

The neurological and ophthalmological manifestations of SPG4-related hereditary spastic paraplegia

artículo científico publicado en 2012

The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy

artículo científico publicado en 2015

The pathogenic m.3243A>T mitochondrial DNA mutation is associated with a variable neurological phenotype

artículo científico publicado en 2010

The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene.

artículo científico publicado en 2011

The prevalence and natural history of dominant optic atrophy due to OPA1 mutations

artículo científico publicado en 2010

The role of complex I genes in MELAS: a novel heteroplasmic mutation 3380G>A in ND1 of mtDNA.

artículo científico publicado en 2008

The role of tRNA synthetases in neurological and neuromuscular disorders

artículo científico publicado en 2017

The swinging pendulum of biomarkers in mitochondrial disease

artículo científico publicado en 2016

Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure

artículo científico publicado en 2013

Titin mutation segregates with hereditary myopathy with early respiratory failure

artículo científico publicado en 2012

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

artículo científico publicado en 2013

Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.

artículo científico publicado en 2014

Two recurrent mutations are associated with GNE myopathy in the North of Britain.

artículo científico publicado en 2014

Universal heteroplasmy of human mitochondrial DNA.

artículo científico publicado en 2012

Update on clinical aspects and treatment of selected vitamin‐responsive disorders II (riboflavin and CoQ10) ⬇️

artículo científico publicado el 10 de enero de 2012

Use of stereotypical mutational motifs to define resolution limits for the ultra-deep resequencing of mitochondrial DNA.

artículo científico publicado en 2014

Valproic acid triggers increased mitochondrial biogenesis in POLG-deficient fibroblasts

artículo científico publicado en 2014

Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy

artículo científico publicado en 2018

Variation in MAPT is not a contributing factor to the incomplete penetrance in LHON.

artículo científico publicado en 2011

Voxel-based analysis in neuroferritinopathy expands the phenotype and determines radiological correlates of disease severity.

artículo científico publicado en 2015

What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?

artículo científico publicado en 2012

Whole exome sequencing and the clinician: we need clinical skills and functional validation in variant filtering

artículo científico publicado en 2015

alpha-Tocopherol/lipid ratio in blood is decreased in patients with Leber's hereditary optic neuropathy and asymptomatic carriers of the 11778 mtDNA mutation

artículo científico publicado en 2001

mutations and central demyelination: Evidence from electrophysiologic phenotyping in female manifesting carriers

article

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