Lista de obras -

A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk

artículo científico publicado en 2017

A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants

artículo científico publicado en 2012

A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease

artículo científico publicado en 2011

A novelLRRK2 mutation in an Austrian cohort of patients with Parkinson's disease

scholarly article by Dietrich Haubenberger et al published 2007 in Movement Disorders

Absence of BiP Co-chaperone DNAJC3 Causes Diabetes Mellitus and Multisystemic Neurodegeneration

Absence of BiP co-chaperone DNAJC3 causes diabetes mellitus and multisystemic neurodegeneration

artículo científico publicado en 2014

Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation

artículo científico publicado en 2011

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

artículo científico publicado en 2016

Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature

artículo científico publicado en 2011

Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2

artículo científico publicado en 2013

Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy

artículo científico publicado en 2016

Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy

artículo científico publicado en 2016

Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability.

artículo científico publicado en 2017

Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy

artículo científico publicado en 2015

Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy

scientific journal article

CAD mutations and uridine-responsive epileptic encephalopathy.

artículo científico publicado en 2016

CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder

artículo científico publicado en 2015

COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency

artículo científico publicado en 2015

Calmodulin mutations associated with recurrent cardiac arrest in infants

scientific article published on 06 February 2013

Classic selective sweeps revealed by massive sequencing in cattle

artículo científico publicado en 2014

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

scientific article published on 19 July 2018

Cohen syndrome diagnosis using whole genome arrays

artículo científico publicado en 2010

Common genetic variants associate with serum phosphorus concentration

artículo científico publicado en 2010

Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndrome

artículo científico publicado en 2014

DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria

artículo científico publicado en 2012

DYT16 revisited: exome sequencing identifies PRKRA mutations in a European dystonia family

artículo científico publicado en 2014

De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment.

artículo científico publicado en 2015

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

scientific journal article

De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum.

artículo científico publicado en 2014

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.

artículo científico publicado en 2015

Dysfunctional nitric oxide signalling increases risk of myocardial infarction

artículo científico publicado en 2013

EARS2 mutations cause fatal neonatal lactic acidosis, recurrent hypoglycemia and agenesis of corpus callosum

artículo científico publicado en 2016

ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy

artículo científico publicado en 2013

Erratum: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls

artículo científico publicado en 2018

Evidence for further genetic locus heterogeneity and confirmation of RLS-1 in restless legs syndrome

artículo científico publicado en 2006

Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation

artículo científico publicado en 2014

Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.

artículo científico publicado en 2012

Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9.

artículo científico

Genetic Landscape of Sporadic Unilateral Adrenocortical Adenomas Without PRKACA p.Leu206Arg Mutation.

artículo científico publicado en 2016

Genetic spectrum and clinical correlates of somatic mutations in aldosterone-producing adenoma

artículo científico publicado en 2014

Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families.

artículo científico publicado en 2014

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

artículo científico publicado en 2018

Genomewide association analysis of coronary artery disease

artículo científico publicado en 2007

Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations

artículo científico publicado en 2011

HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome ⬇️

artículo científico publicado en 2015

HLA DQB1*06:02 negative narcolepsy with hypocretin/orexin deficiency

artículo científico publicado en 2014

Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity.

artículo científico publicado en 2016

Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia

artículo científico publicado en 2015

Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3.

artículo científico publicado en 2005

Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability

artículo científico publicado en 2017

High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative of autosomal recessive RP in the Dutch population

artículo científico publicado en 2011

Histone H3.3 beyond cancer: Germline mutations in <i>Histone 3 Family 3A and 3B</i> cause a previously unidentified neurodegenerative disorder in 46 patients

scientific article published on 02 December 2020

Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.

artículo científico publicado en 2009

Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings

artículo científico publicado en 2012

Human thioredoxin 2 deficiency impairs mitochondrial redox homeostasis and causes early-onset neurodegeneration

artículo científico publicado en 2015

Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy

artículo científico publicado en 2008

Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa

artículo científico publicado en 2008

Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays

artículo científico publicado en 2007

Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome

artículo científico publicado en 2012

Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease

artículo científico publicado en 2014

Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment

artículo científico publicado en 2007

Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome

artículo científico publicado en 2012

Landscape of somatic mutations in sporadic GH-secreting pituitary adenomas.

artículo científico publicado en 2015

Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease

artículo científico publicado en 2013

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis

artículo científico publicado en 2020

MRPL44 mutations cause a slowly progressive multisystem disease with childhood-onset hypertrophic cardiomyopathy

artículo científico publicado en 2015

MRPS22 mutation causes fatal neonatal lactic acidosis with brain and heart abnormalities

artículo científico publicado en 2015

Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4.

scientific article published on 10 October 2013

Mid-frequency DFNA8/12 hearing loss caused by a synonymous TECTA mutation that affects an exonic splice enhancer

artículo científico publicado en 2008

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

artículo científico publicado en 2012

Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping.

artículo científico publicado en 2011

Monogenic variants in dystonia: an exome-wide sequencing study

scientific article published on 01 November 2020

Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine

scientific article

Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency

artículo científico publicado en 2014

Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy

artículo científico publicado en 2012

Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy

artículo científico publicado en 2013

Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy

artículo científico publicado en 2014

Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa.

artículo científico publicado en 2010

Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis

artículo científico publicado en 2007

Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology

artículo científico publicado en 2004

Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia

scientific journal article

Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy

scientific journal article

Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction

artículo científico publicado en 2010

Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy

scientific journal article

Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2

artículo científico publicado en 2004

Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis

artículo científico publicado en 2006

Mutations in the deubiquitinase gene USP8 cause Cushing's disease

artículo científico publicado en 2014

Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss

artículo científico publicado en 2006

Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia

scientific journal article

Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment

artículo científico publicado en 2012

Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis

artículo científico publicado en 2012

Myoclonus-dystonia syndrome: epsilon-sarcoglycan mutations and phenotype

artículo científico publicado en 2002

NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood

scientific journal article

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

artículo científico publicado en 2016

Neonatal encephalocardiomyopathy caused by mutations in VARS2.

artículo científico publicado en 2016

Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy

artículo científico publicado en 2010

Novel (ovario) leukodystrophy related to AARS2 mutations

artículo científico publicado en 2014

Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells

artículo científico publicado en 2016

Novel compound heterozygous TULP1 mutations in a family with severe early-onset retinitis pigmentosa

artículo científico publicado en 2007

Novel null mutations in the EYS gene are a frequent cause of autosomal recessive retinitis pigmentosa in the Israeli population

artículo científico publicado en 2010

PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum

artículo científico publicado en 2013

Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening

artículo científico

Polymorphisms in FKBP5 are associated with increased recurrence of depressive episodes and rapid response to antidepressant treatment

artículo científico publicado en 2004

Polypeptide GalNAc-transferase T3 and familial tumoral calcinosis. Secretion of fibroblast growth factor 23 requires O-glycosylation

artículo científico publicado en 2006

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

artículo científico publicado en 2012

Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies

scientific journal article

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

artículo científico publicado en 2014

Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts

artículo científico publicado en 2015

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

artículo científico publicado en 2016

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

artículo científico publicado en 2009

Sequence data and association statistics from 12,940 type 2 diabetes cases and controls

artículo científico publicado en 2017

Severe respiratory complex III defect prevents liver adaptation to prolonged fasting

artículo científico publicado en 2016

Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension

artículo científico publicado en 2013

Spinal poly-GA inclusions in a C9orf72 mouse model trigger motor deficits and inflammation without neuron loss

artículo científico publicado en 2017

Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2 ⬇️

scientific journal article

TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies

scientific journal article

The First Scube3 Mutant Mouse Line with Pleiotropic Phenotypic Alterations.

artículo científico publicado en 2016

The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted

artículo científico publicado en 2003

The genetic architecture of type 2 diabetes

artículo científico publicado en 2016

Time- and compartment-resolved proteome profiling of the extracellular niche in lung injury and repair

artículo científico publicado en 2015

Transcriptional regulator PRDM12 is essential for human pain perception

artículo científico publicado en 2015

Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry

artículo científico publicado en 2022

VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies

artículo científico publicado en 2014

Viable Ednra Y129F mice feature human mandibulofacial dysostosis with alopecia (MFDA) syndrome due to the homologue mutation

artículo científico publicado en 2016

ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature

artículo científico publicado en 2013

Lista de obras de

A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk

A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants

A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease

A novelLRRK2 mutation in an Austrian cohort of patients with Parkinson's disease

Absence of BiP Co-chaperone DNAJC3 Causes Diabetes Mellitus and Multisystemic Neurodegeneration

Absence of BiP co-chaperone DNAJC3 causes diabetes mellitus and multisystemic neurodegeneration

Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation

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

Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature

Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2

Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy

Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy

Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability.

Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy

Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy

CAD mutations and uridine-responsive epileptic encephalopathy.

CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder

COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency

Calmodulin mutations associated with recurrent cardiac arrest in infants

Classic selective sweeps revealed by massive sequencing in cattle

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Cohen syndrome diagnosis using whole genome arrays

Common genetic variants associate with serum phosphorus concentration

Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndrome

DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria

DYT16 revisited: exome sequencing identifies PRKRA mutations in a European dystonia family

De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment.

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum.

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.

Dysfunctional nitric oxide signalling increases risk of myocardial infarction

EARS2 mutations cause fatal neonatal lactic acidosis, recurrent hypoglycemia and agenesis of corpus callosum

ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy

Erratum: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls

Evidence for further genetic locus heterogeneity and confirmation of RLS-1 in restless legs syndrome

Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation

Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.

Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9.

Genetic Landscape of Sporadic Unilateral Adrenocortical Adenomas Without PRKACA p.Leu206Arg Mutation.

Genetic spectrum and clinical correlates of somatic mutations in aldosterone-producing adenoma

Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families.

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

Genomewide association analysis of coronary artery disease

Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations

HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome ⬇️

HLA DQB1*06:02 negative narcolepsy with hypocretin/orexin deficiency

Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity.

Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia

Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3.

Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability

High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative of autosomal recessive RP in the Dutch population

Histone H3.3 beyond cancer: Germline mutations in <i>Histone 3 Family 3A and 3B</i> cause a previously unidentified neurodegenerative disorder in 46 patients

Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.

Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings

Human thioredoxin 2 deficiency impairs mitochondrial redox homeostasis and causes early-onset neurodegeneration

Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy

Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa

Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays

Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome

Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease

Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment

Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome

Landscape of somatic mutations in sporadic GH-secreting pituitary adenomas.

Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis

MRPL44 mutations cause a slowly progressive multisystem disease with childhood-onset hypertrophic cardiomyopathy

MRPS22 mutation causes fatal neonatal lactic acidosis with brain and heart abnormalities

Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4.

Mid-frequency DFNA8/12 hearing loss caused by a synonymous TECTA mutation that affects an exonic splice enhancer

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping.

Monogenic variants in dystonia: an exome-wide sequencing study

Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine

Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency

Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy

Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy

Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy

Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa.

Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis