Lista de obras -

"Sighted C3H" mice--a tool for analysing the influence of vision on mouse behaviour?

artículo científico publicado en 2008

A Scale to Assess Activities of Daily Living in Pantothenate Kinase-Associated Neurodegeneration

artículo científico publicado en 2019

A broad phenotypic screen identifies novel phenotypes driven by a single mutant allele in Huntington's disease CAG knock-in mice

artículo científico publicado en 2013

A comprehensive and comparative phenotypic analysis of the collaborative founder strains identifies new and known phenotypes

artículo científico publicado en 2020

A mouse model for intellectual disability caused by mutations in the X-linked 2′‑O‑methyltransferase Ftsj1 gene

article

A randomized placebo-controlled trial of idebenone in Leber's hereditary optic neuropathy

artículo científico publicado en 2011

Aberrant methylation of tRNAs links cellular stress to neuro-developmental disorders

artículo científico publicado en 2014

Abnormal brain iron metabolism in Irp2 deficient mice is associated with mild neurological and behavioral impairments

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

Analysis of mammalian gene function through broad-based phenotypic screens across a consortium of mouse clinics

artículo científico publicado en 2015

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

artículo científico publicado en 2016

Bilateral visual improvement with unilateral gene therapy injection for Leber hereditary optic neuropathy

artículo científico publicado en 2020

Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data

artículo científico publicado en 2015

Brain diffusion tensor imaging changes in cerebrotendinous xanthomatosis reversed with treatment.

artículo científico publicado en 2017

Charles Bonnet syndrome in Leber's hereditary optic neuropathy

artículo científico publicado en 2019

Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia

artículo científico

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

scientific article published on 19 July 2018

Comparison of three clinical rating scales in Friedreich ataxia (FRDA).

artículo científico publicado en 2009

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

artículo científico publicado en 2019

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.

artículo científico publicado en 2015

Depression comorbidity in spinocerebellar ataxia

artículo científico publicado en 2011

Dll1 haploinsufficiency in adult mice leads to a complex phenotype affecting metabolic and immunological processes

scientific journal article

Does enamelin have pleiotropic effects on organs other than the teeth? Lessons from a phenotyping screen of two enamelin-mutant mouse lines

scientific journal article

Every-other-day feeding extends lifespan but fails to delay many symptoms of aging in mice.

artículo científico publicado en 2017

Expression analysis of dopaminergic neurons in Parkinson's disease and aging links transcriptional dysregulation of energy metabolism to cell death.

artículo científico publicado en 2011

Fgf9 (Y162C) Mutation Alters Information Processing and Social Memory in Mice

artículo científico publicado en 2017

Friedreich and dominant ataxias: quantitative differences in cerebellar dysfunction measurements

artículo científico publicado en 2017

Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility

scientific article published on 30 January 2020

Generation and Standardized, Systemic Phenotypic Analysis of Pou3f3L423P Mutant Mice

artículo científico publicado en 2016

Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation

artículo científico publicado en 2006

High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease

artículo científico publicado en 2006

High mobility group N proteins modulate the fidelity of the cellular transcriptional profile in a tissue- and variant-specific manner

artículo científico publicado en 2013

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

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

artículo científico publicado en 2017

In-depth phenotyping reveals common and novel disease symptoms in a hemizygous knock-in mouse model (Mut-ko/ki) of mut-type methylmalonic aciduria

artículo científico publicado en 2019

Innovations in phenotyping of mouse models in the German Mouse Clinic

artículo científico publicado en 2012

Introducing the German Mouse Clinic: open access platform for standardized phenotyping

artículo científico publicado en 2005

Iron homeostasis in the brain: complete iron regulatory protein 2 deficiency without symptomatic neurodegeneration in the mouse

artículo científico publicado en 2006

LINS1-associated neurodevelopmental disorder: Family with novel mutation expands the phenotypic spectrum

scientific article published on 04 August 2020

Laboratory mouse housing conditions can be improved using common environmental enrichment without compromising data.

artículo científico publicado en 2018

Large-scale phenotyping of an accurate genetic mouse model of JNCL identifies novel early pathology outside the central nervous system

artículo científico publicado en 2012

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

artículo científico publicado en 2010

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

artículo científico publicado en 2013

Low catalytic activity is insufficient to induce disease pathology in triosephosphate isomerase (TPI) deficiency

scientific article published on 11 June 2019

MIM-Induced Membrane Bending Promotes Dendritic Spine Initiation

artículo científico publicado en 2015

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

artículo científico publicado en 2015

MTO1 mediates tissue specificity of OXPHOS defects via tRNA modification and translation optimization, which can be bypassed by dietary intervention

artículo científico publicado en 2014

MTO1-deficient mouse model mirrors the human phenotype showing complex I defect and cardiomyopathy

artículo científico publicado en 2014

Meis1: effects on motor phenotypes and the sensorimotor system in mice

artículo científico publicado en 2017

MiR-34a deficiency accelerates medulloblastoma formation in vivo

artículo científico publicado en 2014

Microphthalmia, parkinsonism, and enhanced nociception in Pitx3 ( 416insG ) mice

artículo científico publicado en 2009

MitoP2: an integrative tool for the analysis of the mitochondrial proteome

artículo científico publicado en 2008

Mitochondrial dysfunction and decrease in body weight of a transgenic knock-in mouse model for TDP-43.

artículo científico publicado en 2014

Mitochondrial membrane protein-associated neurodegeneration (MPAN).

artículo científico publicado en 2013

Mitochondrial replacement approaches: challenges for clinical implementation.

artículo científico publicado en 2016

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

artículo científico publicado en 2012

Mouse Genetics and Metabolic Mouse Phenotyping

article

Mouse phenotyping

artículo científico publicado en 2010

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

artículo científico publicado en 2014

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

scientific journal article

Neurobeachin, a regulator of synaptic protein targeting, is associated with body fat mass and feeding behavior in mice and body-mass index in humans

artículo científico publicado en 2012

Neurological phenotype and reduced lifespan in heterozygous Tim23 knockout mice, the first mouse model of defective mitochondrial import

article

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

artículo científico publicado en 2013

Pantothenate kinase-associated neurodegeneration

artículo científico publicado en 2012

Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene

artículo científico publicado en 2006

Pleiotropic effects in Eya3 knockout mice

artículo científico publicado en 2008

Pleiotropic functions for transcription factor zscan10.

artículo científico publicado en 2014

Quality of life in patients with leber hereditary optic neuropathy

artículo científico publicado en 2009

Rapamycin extends murine lifespan but has limited effects on aging

artículo científico publicado en 2013

Reply: Parsing the differences in affected with LHON: genetic versus environmental triggers of disease conversion

artículo científico publicado en 2015

Requirement of the RNA-editing enzyme ADAR2 for normal physiology in mice

artículo científico publicado en 2011

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

Self-rated health status in spinocerebellar ataxia--results from a European multicenter study

artículo científico publicado en 2010

Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients

artículo científico publicado en 2014

Serum Response Factor (SRF) Ablation Interferes with Acute Stress-Associated Immediate and Long-Term Coping Mechanisms

artículo científico publicado en 2016

Single-cell expression profiling of dopaminergic neurons combined with association analysis identifies pyridoxal kinase as Parkinson's disease gene

artículo científico publicado en 2009

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

artículo científico publicado en 2017

Spinocerebellar ataxia type 36 exists in diverse populations and can be caused by a short hexanucleotide GGCCTG repeat expansion

artículo científico publicado en 2014

Srgap3⁻/⁻ mice present a neurodevelopmental disorder with schizophrenia-related intermediate phenotypes

artículo científico publicado en 2012

Standardized, systemic phenotypic analysis reveals kidney dysfunction as main alteration of Kctd1 I27N mutant mice

artículo científico publicado en 2017

Systemic first-line phenotyping

artículo científico

The First Scube3 Mutant Mouse Line with Pleiotropic Phenotypic Alterations.

artículo científico publicado en 2016

The mouse Trm1-like gene is expressed in neural tissues and plays a role in motor coordination and exploratory behaviour

scientific journal article

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

artículo científico publicado en 2010

Understanding gene functions and disease mechanisms: Phenotyping pipelines in the German Mouse Clinic

artículo científico publicado en 2017

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

artículo científico publicado en 2016

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

artículo científico publicado en 2012

Lista de obras de

"Sighted C3H" mice--a tool for analysing the influence of vision on mouse behaviour?

A Scale to Assess Activities of Daily Living in Pantothenate Kinase-Associated Neurodegeneration

A broad phenotypic screen identifies novel phenotypes driven by a single mutant allele in Huntington's disease CAG knock-in mice

A comprehensive and comparative phenotypic analysis of the collaborative founder strains identifies new and known phenotypes

A mouse model for intellectual disability caused by mutations in the X-linked 2′‑O‑methyltransferase Ftsj1 gene

A randomized placebo-controlled trial of idebenone in Leber's hereditary optic neuropathy

Aberrant methylation of tRNAs links cellular stress to neuro-developmental disorders

Abnormal brain iron metabolism in Irp2 deficient mice is associated with mild neurological and behavioral impairments

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

Analysis of mammalian gene function through broad-based phenotypic screens across a consortium of mouse clinics

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

Bilateral visual improvement with unilateral gene therapy injection for Leber hereditary optic neuropathy

Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data

Brain diffusion tensor imaging changes in cerebrotendinous xanthomatosis reversed with treatment.

Charles Bonnet syndrome in Leber's hereditary optic neuropathy

Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia

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

Comparison of three clinical rating scales in Friedreich ataxia (FRDA).

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

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.

Depression comorbidity in spinocerebellar ataxia

Dll1 haploinsufficiency in adult mice leads to a complex phenotype affecting metabolic and immunological processes

Does enamelin have pleiotropic effects on organs other than the teeth? Lessons from a phenotyping screen of two enamelin-mutant mouse lines

Every-other-day feeding extends lifespan but fails to delay many symptoms of aging in mice.

Expression analysis of dopaminergic neurons in Parkinson's disease and aging links transcriptional dysregulation of energy metabolism to cell death.

Fgf9 (Y162C) Mutation Alters Information Processing and Social Memory in Mice

Friedreich and dominant ataxias: quantitative differences in cerebellar dysfunction measurements

Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility

Generation and Standardized, Systemic Phenotypic Analysis of Pou3f3L423P Mutant Mice

Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation

High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease

High mobility group N proteins modulate the fidelity of the cellular transcriptional profile in a tissue- and variant-specific manner

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

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

In-depth phenotyping reveals common and novel disease symptoms in a hemizygous knock-in mouse model (Mut-ko/ki) of mut-type methylmalonic aciduria

Innovations in phenotyping of mouse models in the German Mouse Clinic

Introducing the German Mouse Clinic: open access platform for standardized phenotyping

Iron homeostasis in the brain: complete iron regulatory protein 2 deficiency without symptomatic neurodegeneration in the mouse

LINS1-associated neurodevelopmental disorder: Family with novel mutation expands the phenotypic spectrum

Laboratory mouse housing conditions can be improved using common environmental enrichment without compromising data.

Large-scale phenotyping of an accurate genetic mouse model of JNCL identifies novel early pathology outside the central nervous system

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

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

Low catalytic activity is insufficient to induce disease pathology in triosephosphate isomerase (TPI) deficiency

MIM-Induced Membrane Bending Promotes Dendritic Spine Initiation

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

MTO1 mediates tissue specificity of OXPHOS defects via tRNA modification and translation optimization, which can be bypassed by dietary intervention

MTO1-deficient mouse model mirrors the human phenotype showing complex I defect and cardiomyopathy

Meis1: effects on motor phenotypes and the sensorimotor system in mice

MiR-34a deficiency accelerates medulloblastoma formation in vivo

Microphthalmia, parkinsonism, and enhanced nociception in Pitx3 ( 416insG ) mice

MitoP2: an integrative tool for the analysis of the mitochondrial proteome

Mitochondrial dysfunction and decrease in body weight of a transgenic knock-in mouse model for TDP-43.

Mitochondrial membrane protein-associated neurodegeneration (MPAN).

Mitochondrial replacement approaches: challenges for clinical implementation.

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

Mouse Genetics and Metabolic Mouse Phenotyping

Mouse phenotyping

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

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

Neurobeachin, a regulator of synaptic protein targeting, is associated with body fat mass and feeding behavior in mice and body-mass index in humans

Neurological phenotype and reduced lifespan in heterozygous Tim23 knockout mice, the first mouse model of defective mitochondrial import

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

Pantothenate kinase-associated neurodegeneration

Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene

Pleiotropic effects in Eya3 knockout mice

Pleiotropic functions for transcription factor zscan10.

Quality of life in patients with leber hereditary optic neuropathy

Rapamycin extends murine lifespan but has limited effects on aging

Reply: Parsing the differences in affected with LHON: genetic versus environmental triggers of disease conversion

Requirement of the RNA-editing enzyme ADAR2 for normal physiology in mice

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

Self-rated health status in spinocerebellar ataxia--results from a European multicenter study

Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients

Serum Response Factor (SRF) Ablation Interferes with Acute Stress-Associated Immediate and Long-Term Coping Mechanisms

Single-cell expression profiling of dopaminergic neurons combined with association analysis identifies pyridoxal kinase as Parkinson's disease gene

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

Spinocerebellar ataxia type 36 exists in diverse populations and can be caused by a short hexanucleotide GGCCTG repeat expansion