List of works - Cecilia Jimenez-Mallebrera

A case presenting with delayed motor milestones

scientific article published on 30 September 2005

A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations

article

A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity

scientific article

A congenital myopathy with diaphragmatic weakness not linked to the SMARD1 locus

A homozygous COL6A2 intron mutation causes in-frame triple-helical deletion and nonsense-mediated mRNA decay in a patient with Ullrich congenital muscular dystrophy.

scientific article

A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies

scientific article published on 21 March 2019

A study of short utrophin isoforms in mice deficient for full-length utrophin

scientific article published in January 2003

Absence of neuronal nitric oxide synthase (nNOS) as a pathological marker for the diagnosis of Becker muscular dystrophy with rod domain deletions

scientific article published in October 2004

Activation of osmolyte pathways in inflammatory myopathy and Duchenne muscular dystrophy points to osmoregulation as a contributing pathogenic mechanism

scientific article published on 20 June 2016

Antenatal and postnatal brain magnetic resonance imaging in muscle-eye-brain disease

scientific article

Association between coenzyme Q10 and glucose transporter (GLUT1) deficiency.

scientific article

CHRNG-related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings

scientific article published on 14 March 2019

Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein

scientific article published on 01 October 2019

Clinical presentation and proteomic signature of patients with TANGO2 mutations

scientific article published on 13 August 2019

Congenital muscular dystrophy: molecular and cellular aspects.

scientific article

Congenital myasthenic syndromes in childhood: diagnostic and management challenges

scientific article published on 15 August 2008

Congenital myopathies

scientific article published on 01 October 2008

Correction: Gene Expression Profiling Identifies Molecular Pathways Associated with Collagen VI Deficiency and Provides Novel Therapeutic Targets

scientific article published on 14 May 2015

Corrigendum: Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations

scientific article published on 28 July 2015

Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue

scientific article

Deoxynucleoside Therapy for Thymidine Kinase 2-Deficient Myopathy

scientific article published on 17 June 2019

Differences in Adipose Tissue and Lean Mass Distribution in Patients with Collagen VI Related Myopathies Are Associated with Disease Severity and Physical Ability

scientific article

Digital PCR quantification of miR-30c and miR-181a as serum biomarkers for Duchenne muscular dystrophy

scientific article

Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance.

scientific article

Flow cytometry analysis: a quantitative method for collagen VI deficiency screening

scientific article published on 8 November 2011

Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy

scientific article

GDF-15 Is Elevated in Children with Mitochondrial Diseases and Is Induced by Mitochondrial Dysfunction.

scientific article published on 11 February 2016

Gene expression profiling identifies molecular pathways associated with collagen VI deficiency and provides novel therapeutic targets

scientific article

Glycogen branching enzyme deficiency in an infant with severe congenital hypotonia: an emerging diagnosis of muscle weakness in the perinatal period

scientific article published on 01 May 2009

Homozygous truncating mutation in prenatally expressed skeletal isoform of TTN gene results in arthrogryposis multiplex congenita and myopathy without cardiac involvement

scientific article published on 11 November 2016

Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes

scientific article

KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors.

scientific article published on 11 January 2016

Late-onset thymidine kinase 2 deficiency: a review of 18 cases

article

Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations

scientific article

Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant

scientific article published in January 2008

Muscle Fiber Atrophy and Regeneration Coexist in Collagen VI-Deficient Human Muscle: Role of Calpain-3 and Nuclear Factor-κB Signaling

scientific article published on 01 October 2012

Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease

scientific article published on 10 January 2019

Muscle magnetic resonance imaging in patients with congenital muscular dystrophy and Ullrich phenotype

article

Mutation loads in different tissues from six pathogenic mtDNA point mutations.

scientific article published on 10 March 2015

Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan

scientific article (publication date: November 2003)

Natural history of Ullrich congenital muscular dystrophy.

scientific article published on July 2009

PGC-1α induces mitochondrial and myokine transcriptional programs and lipid droplet and glycogen accumulation in cultured human skeletal muscle cells

scientific article

Prenatal diagnosis in laminin alpha2 chain (merosin)-deficient congenital muscular dystrophy: a collective experience of five international centers.

scientific article published in October 2005

Prenatal diagnosis of Ullrich congenital muscular dystrophy using haplotype analysis and collagen VI immunocytochemistry

scientific article published in June 2004

Profound skeletal muscle depletion of alpha-dystroglycan in Walker-Warburg syndrome.

scientific article published on January 2003

Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy

scientific article

Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan

scientific article

Response to letter from Bernardi

Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders.

scientific article published on 30 June 2016

TRAPPC11 functions in autophagy by recruiting ATG2B-WIPI4/WDR45 to preautophagosomal membranes

scientific article published on 09 April 2019

Transcriptome Analysis of Ullrich Congenital Muscular Dystrophy Fibroblasts Reveals a Disease Extracellular Matrix Signature and Key Molecular Regulators

scientific article

Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential novel biomarker for mitochondrial myopathies

scientific article published on February 2014

mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect

article

List of works by Cecilia Jimenez-Mallebrera

A case presenting with delayed motor milestones

A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations

A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity

A congenital myopathy with diaphragmatic weakness not linked to the SMARD1 locus

A homozygous COL6A2 intron mutation causes in-frame triple-helical deletion and nonsense-mediated mRNA decay in a patient with Ullrich congenital muscular dystrophy.

A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies

A study of short utrophin isoforms in mice deficient for full-length utrophin

Absence of neuronal nitric oxide synthase (nNOS) as a pathological marker for the diagnosis of Becker muscular dystrophy with rod domain deletions

Activation of osmolyte pathways in inflammatory myopathy and Duchenne muscular dystrophy points to osmoregulation as a contributing pathogenic mechanism

Antenatal and postnatal brain magnetic resonance imaging in muscle-eye-brain disease

Association between coenzyme Q10 and glucose transporter (GLUT1) deficiency.

CHRNG-related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings

Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein

Clinical presentation and proteomic signature of patients with TANGO2 mutations

Congenital muscular dystrophy: molecular and cellular aspects.

Congenital myasthenic syndromes in childhood: diagnostic and management challenges

Congenital myopathies

Correction: Gene Expression Profiling Identifies Molecular Pathways Associated with Collagen VI Deficiency and Provides Novel Therapeutic Targets

Corrigendum: Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations

Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue

Deoxynucleoside Therapy for Thymidine Kinase 2-Deficient Myopathy

Differences in Adipose Tissue and Lean Mass Distribution in Patients with Collagen VI Related Myopathies Are Associated with Disease Severity and Physical Ability

Digital PCR quantification of miR-30c and miR-181a as serum biomarkers for Duchenne muscular dystrophy

Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance.

Flow cytometry analysis: a quantitative method for collagen VI deficiency screening

Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy

GDF-15 Is Elevated in Children with Mitochondrial Diseases and Is Induced by Mitochondrial Dysfunction.

Gene expression profiling identifies molecular pathways associated with collagen VI deficiency and provides novel therapeutic targets

Glycogen branching enzyme deficiency in an infant with severe congenital hypotonia: an emerging diagnosis of muscle weakness in the perinatal period

Homozygous truncating mutation in prenatally expressed skeletal isoform of TTN gene results in arthrogryposis multiplex congenita and myopathy without cardiac involvement

Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes

KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors.

Late-onset thymidine kinase 2 deficiency: a review of 18 cases

Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations

Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant

Muscle Fiber Atrophy and Regeneration Coexist in Collagen VI-Deficient Human Muscle: Role of Calpain-3 and Nuclear Factor-κB Signaling

Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease

Muscle magnetic resonance imaging in patients with congenital muscular dystrophy and Ullrich phenotype

Mutation loads in different tissues from six pathogenic mtDNA point mutations.

Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan

Natural history of Ullrich congenital muscular dystrophy.

PGC-1α induces mitochondrial and myokine transcriptional programs and lipid droplet and glycogen accumulation in cultured human skeletal muscle cells

Prenatal diagnosis in laminin alpha2 chain (merosin)-deficient congenital muscular dystrophy: a collective experience of five international centers.

Prenatal diagnosis of Ullrich congenital muscular dystrophy using haplotype analysis and collagen VI immunocytochemistry

Profound skeletal muscle depletion of alpha-dystroglycan in Walker-Warburg syndrome.

Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy

Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan

Response to letter from Bernardi

Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders.

TRAPPC11 functions in autophagy by recruiting ATG2B-WIPI4/WDR45 to preautophagosomal membranes

Transcriptome Analysis of Ullrich Congenital Muscular Dystrophy Fibroblasts Reveals a Disease Extracellular Matrix Signature and Key Molecular Regulators

Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential novel biomarker for mitochondrial myopathies

mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect