Lista de obras - Sabrina Sacconi - Dominio Público Uruguay

A functionally dominant mitochondrial DNA mutation

artículo científico publicado en 2008

A novel CRYAB mutation resulting in multisystemic disease

artículo científico publicado en 2011

A novel gain-of-function mutation in ORAI1 causes late-onset tubular aggregate myopathy and congenital miosis

artículo científico publicado en 2016

A novel role for the RNA-binding protein FXR1P in myoblasts cell-cycle progression by modulating p21/Cdkn1a/Cip1/Waf1 mRNA stability

artículo científico publicado en 2013

A unifying genetic model for facioscapulohumeral muscular dystrophy

artículo científico publicado en 2010

Abnormalities of cerebral arteries are frequent in patients with late-onset Pompe disease.

artículo científico publicado en 2010

Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene.

artículo científico publicado en 2007

Atrio-ventricular block requiring pacemaker in patients with late onset Pompe disease

artículo científico publicado en 2014

Bent spine syndrome as the initial symptom of late-onset Pompe disease.

artículo científico publicado en 2016

CHCHD10mutations are not a common cause ofSMN1-negative type III/IV spinal motor atrophy

artículo científico publicado en 2015

COX16 is required for assembly of cytochrome c oxidase in human cells and is involved in copper delivery to COX2.

artículo científico publicado en 2018

Cis D4Z4 repeat duplications associated with facioscapulohumeral muscular dystrophy type 2

scientific article published on 01 October 2018

Clinical trial readiness to solve barriers to drug development in FSHD (ReSolve): protocol of a large, international, multi-center prospective study

artículo científico publicado en 2019

Coats syndrome in facioscapulohumeral dystrophy type 1: frequency and D4Z4 contraction size.

artículo científico publicado en 2013

Coenzyme Q10 is frequently reduced in muscle of patients with mitochondrial myopathy

artículo científico publicado en 2009

Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD.

artículo científico publicado en 2009

Complex neurologic syndrome associated with the G1606A mutation of mitochondrial DNA.

artículo científico publicado en 2002

Construction of a Quality of Life Questionnaire for slowly progressive neuromuscular disease

artículo científico publicado en 2015

Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with SCO2 mutations

artículo científico publicado en 2012

Copper supplementation restores cytochrome c oxidase activity in cultured cells from patients with SCO2 mutations

artículo científico publicado en 2002

Correlation between low FAT1 expression and early affected muscle in facioscapulohumeral muscular dystrophy

artículo científico

Cytochrome c oxidase deficiency due to a novel SCO2 mutation mimics Werdnig-Hoffmann disease

artículo científico publicado en 2002

DUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles

artículo científico publicado en 2013

Deciphering the complexity of the 4q and 10q subtelomeres by molecular combing in healthy individuals and patients with facioscapulohumeral dystrophy

artículo científico publicado en 2019

Deep characterization of a common D4Z4 variant identifies biallelic DUX4 expression as a modifier for disease penetrance in FSHD2.

artículo científico publicado en 2017

Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment

artículo científico publicado en 2019

Dehydroepiandrosterone for myotonic dystrophy type 1.

artículo científico

Diagnostic challenges in facioscapulohumeral muscular dystrophy

scientific article published on 01 October 2006

Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2

artículo científico publicado en 2012

Do patients having a decrease in SNAP amplitude during the course of MMN present with a different condition?

artículo científico publicado en 2009

E-Health & Innovation to Overcome Barriers in Neuromuscular Diseases. Report from the 1st eNMD Congress: Nice, France, March 22-23, 2019

publication published on 01 January 2021

EFNS review on the role of muscle biopsy in the investigation of myalgia.

artículo científico

Estrogens enhance myoblast differentiation in facioscapulohumeral muscular dystrophy by antagonizing DUX4 activity

artículo científico publicado en 2017

Expanding the importance of HMERF titinopathy: new mutations and clinical aspects

artículo científico publicado en 2019

FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation

artículo científico publicado en 2018

Facioscapulohumeral muscular dystrophy

scientific article published on 29 May 2014

Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study

artículo científico publicado en 2016

Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency.

artículo científico publicado en 2012

Hepatocerebral mitochondrial DNA depletion syndrome: clinical and morphologic features of a nuclear gene mutation

artículo científico publicado en 2004

Hierarchization of myogenic and adipogenic progenitors within human skeletal muscle.

artículo científico publicado en 2010

Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: a CoQ10-responsive condition.

artículo científico publicado en 2005

Inflammatory facioscapulohumeral muscular dystrophy type 2 in 18p deletion syndrome

artículo científico publicado en 2018

Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2. ⬇️

artículo científico publicado en 2014

Intronic SMCHD1 variants in FSHD: testing the potential for CRISPR-Cas9 genome editing

scientific article published on 01 November 2019

Isolation of a highly myogenic CD34-negative subset of human skeletal muscle cells free of adipogenic potential.

artículo científico publicado en 2010

Letter to the Editor on a paper by Hsiao C-T, Tsai P-C, Liao Y-C, Lee Y-C, Soong B-W. C9ORF72 repeat expansion is not a significant cause of late-onset cerebellar ataxia syndrome. J Neurol Sci 2014;347:322–324

article

Long term follow-up of cerebrovascular abnormalities in late onset Pompe disease (LOPD).

artículo científico publicado en 2017

Long-term mechanical ventilation equipment for neuromuscular patients: meeting the expectations of patients and prescribers

artículo científico publicado en 2013

Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study

artículo científico publicado en 2015

McArdle disease (gycogenosis type V): analysis of clinical, biological and genetic features of five French patients

artículo científico publicado en 2008

Mechanisms underlying Andersen's syndrome pathology in skeletal muscle are revealed in human myotubes.

artículo científico publicado en 2009

Miller Fisher syndrome, Bickerstaff brainstem encephalitis and Guillain-Barré syndrome overlap with persistent non-demyelinating conduction blocks: a case report

scientific article published on 21 July 2018

Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias

artículo científico publicado en 2016

Mitochondrial DNA depletion and dGK gene mutations

artículo científico publicado en 2002

Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the G12315A mutation in mitochondrial DNA.

artículo científico publicado en 2002

Modeling Andersen's Syndrome in Human Induced Pluripotent Stem Cells.

artículo científico publicado en 2015

Monosomy 18p is a risk factor for facioscapulohumeral dystrophy.

artículo científico publicado en 2018

Motor and respiratory heterogeneity in Duchenne patients: Implication for clinical trials

scientific article published on 15 September 2011

Mutation analysis of COX18 in 29 patients with isolated cytochrome c oxidase deficiency.

artículo científico publicado en 2009

Mutation screening in patients with isolated cytochrome c oxidase deficiency

artículo científico publicado en 2003

Neuromuscular electrical stimulation training: a safe and effective treatment for facioscapulohumeral muscular dystrophy patients.

artículo científico publicado en 2010

New variant of necklace fibres display peculiar lysosomal structures and mitophagy

scientific article published on 02 July 2018

Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations

artículo científico publicado en 2015

Normal growth and regenerating ability of myoblasts from unaffected muscles of facioscapulohumeral muscular dystrophy patients.

artículo científico publicado en 2005

Novel SURF1 mutation in a child with subacute encephalopathy and without the radiological features of Leigh Syndrome

artículo científico publicado en 2004

Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores.

artículo científico publicado en 2008

O-1. High frequency of hypomethylation in patients with fshd-like phenotype.

artículo científico publicado en 2009

Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity.

artículo científico publicado en 2011

Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort

artículo científico publicado en 2013

Retinal involvement and genetic myopathy ⬇️

artículo científico publicado el 10 de noviembre de 2010

SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain

artículo científico publicado en 2019

Severe defect in mitochondrial complex I assembly with mitochondrial DNA deletions in ACAD9-deficient mild myopathy.

artículo científico publicado en 2016

Short-TERM Neuromuscular Electrical Stimulation Training of the Tibialis Anterior Did Not Improve Strength and Motor Function in Facioscapulohumeral Muscular Dystrophy Patients.

artículo científico publicado en 2017

The COQ2 genotype predicts the severity of coenzyme Q10 deficiency

scientific journal article

The D4Z4 macrosatellite repeat acts as a CTCF and A-type lamins-dependent insulator in facio-scapulo-humeral dystrophy.

artículo científico publicado en 2009

The FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1

artículo científico publicado en 2013

The French National Registry of patients with Facioscapulohumeral muscular dystrophy

article

The French Pompe registry. Baseline characteristics of a cohort of 126 patients with adult Pompe disease

artículo científico publicado en 2013

The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients

artículo científico publicado en 2016

The inward rectifier potassium channel Kir2.1 is required for osteoblastogenesis.

artículo científico publicado en 2014

The quality of life in genetic neuromuscular disease questionnaire: Rasch validation of the French version

artículo científico publicado en 2017

Type 1 FSHD with 6-10 Repeated Units: Factors Underlying Severity in Index Cases and Disease Penetrance in Their Relatives Attention

artículo científico publicado en 2020

Unusual clinical presentations in four cases of Leigh disease, cytochrome C oxidase deficiency, and SURF1 gene mutations

artículo científico publicado en 2005

Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies.

artículo científico publicado en 2014

[Facioscapulohumeral muscular dystrophy type 2]

artículo científico publicado en 2013

[The possible place of autologus cell therapy in facioscapulohumeral muscular dystrophy].

artículo científico publicado en 2005

[Validity of the motor function measurement scale when routinely used in the follow-up of adult outpatients in a neuromuscular center]

artículo científico publicado en 2009

deletion in an encephalomyopathy with hyperintensity of middle cerebellar peduncles

hCOX18 and hCOX19: two human genes involved in cytochrome c oxidase assembly

artículo científico publicado en 2005

Lista de obras de Sabrina Sacconi

A functionally dominant mitochondrial DNA mutation

A novel CRYAB mutation resulting in multisystemic disease

A novel gain-of-function mutation in ORAI1 causes late-onset tubular aggregate myopathy and congenital miosis

A novel role for the RNA-binding protein FXR1P in myoblasts cell-cycle progression by modulating p21/Cdkn1a/Cip1/Waf1 mRNA stability

A unifying genetic model for facioscapulohumeral muscular dystrophy

Abnormalities of cerebral arteries are frequent in patients with late-onset Pompe disease.

Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene.

Atrio-ventricular block requiring pacemaker in patients with late onset Pompe disease

Bent spine syndrome as the initial symptom of late-onset Pompe disease.

CHCHD10mutations are not a common cause ofSMN1-negative type III/IV spinal motor atrophy

COX16 is required for assembly of cytochrome c oxidase in human cells and is involved in copper delivery to COX2.

Cis D4Z4 repeat duplications associated with facioscapulohumeral muscular dystrophy type 2

Clinical trial readiness to solve barriers to drug development in FSHD (ReSolve): protocol of a large, international, multi-center prospective study

Coats syndrome in facioscapulohumeral dystrophy type 1: frequency and D4Z4 contraction size.

Coenzyme Q10 is frequently reduced in muscle of patients with mitochondrial myopathy

Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD.

Complex neurologic syndrome associated with the G1606A mutation of mitochondrial DNA.

Construction of a Quality of Life Questionnaire for slowly progressive neuromuscular disease

Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with SCO2 mutations

Copper supplementation restores cytochrome c oxidase activity in cultured cells from patients with SCO2 mutations

Correlation between low FAT1 expression and early affected muscle in facioscapulohumeral muscular dystrophy

Cytochrome c oxidase deficiency due to a novel SCO2 mutation mimics Werdnig-Hoffmann disease

DUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles

Deciphering the complexity of the 4q and 10q subtelomeres by molecular combing in healthy individuals and patients with facioscapulohumeral dystrophy

Deep characterization of a common D4Z4 variant identifies biallelic DUX4 expression as a modifier for disease penetrance in FSHD2.

Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment

Dehydroepiandrosterone for myotonic dystrophy type 1.

Diagnostic challenges in facioscapulohumeral muscular dystrophy

Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2

Do patients having a decrease in SNAP amplitude during the course of MMN present with a different condition?

E-Health & Innovation to Overcome Barriers in Neuromuscular Diseases. Report from the 1st eNMD Congress: Nice, France, March 22-23, 2019

EFNS review on the role of muscle biopsy in the investigation of myalgia.

Estrogens enhance myoblast differentiation in facioscapulohumeral muscular dystrophy by antagonizing DUX4 activity

Expanding the importance of HMERF titinopathy: new mutations and clinical aspects

FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation

Facioscapulohumeral muscular dystrophy

Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study

Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency.

Hepatocerebral mitochondrial DNA depletion syndrome: clinical and morphologic features of a nuclear gene mutation

Hierarchization of myogenic and adipogenic progenitors within human skeletal muscle.

Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: a CoQ10-responsive condition.

Inflammatory facioscapulohumeral muscular dystrophy type 2 in 18p deletion syndrome

Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2. ⬇️

Intronic SMCHD1 variants in FSHD: testing the potential for CRISPR-Cas9 genome editing

Isolation of a highly myogenic CD34-negative subset of human skeletal muscle cells free of adipogenic potential.

Letter to the Editor on a paper by Hsiao C-T, Tsai P-C, Liao Y-C, Lee Y-C, Soong B-W. C9ORF72 repeat expansion is not a significant cause of late-onset cerebellar ataxia syndrome. J Neurol Sci 2014;347:322–324

Long term follow-up of cerebrovascular abnormalities in late onset Pompe disease (LOPD).

Long-term mechanical ventilation equipment for neuromuscular patients: meeting the expectations of patients and prescribers

Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study

McArdle disease (gycogenosis type V): analysis of clinical, biological and genetic features of five French patients

Mechanisms underlying Andersen's syndrome pathology in skeletal muscle are revealed in human myotubes.

Miller Fisher syndrome, Bickerstaff brainstem encephalitis and Guillain-Barré syndrome overlap with persistent non-demyelinating conduction blocks: a case report

Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias

Mitochondrial DNA depletion and dGK gene mutations

Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the G12315A mutation in mitochondrial DNA.

Modeling Andersen's Syndrome in Human Induced Pluripotent Stem Cells.

Monosomy 18p is a risk factor for facioscapulohumeral dystrophy.

Motor and respiratory heterogeneity in Duchenne patients: Implication for clinical trials

Mutation analysis of COX18 in 29 patients with isolated cytochrome c oxidase deficiency.

Mutation screening in patients with isolated cytochrome c oxidase deficiency

Neuromuscular electrical stimulation training: a safe and effective treatment for facioscapulohumeral muscular dystrophy patients.

New variant of necklace fibres display peculiar lysosomal structures and mitophagy

Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations

Normal growth and regenerating ability of myoblasts from unaffected muscles of facioscapulohumeral muscular dystrophy patients.

Novel SURF1 mutation in a child with subacute encephalopathy and without the radiological features of Leigh Syndrome

Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores.

O-1. High frequency of hypomethylation in patients with fshd-like phenotype.

Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity.

Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort

Retinal involvement and genetic myopathy ⬇️

SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain

Severe defect in mitochondrial complex I assembly with mitochondrial DNA deletions in ACAD9-deficient mild myopathy.

Short-TERM Neuromuscular Electrical Stimulation Training of the Tibialis Anterior Did Not Improve Strength and Motor Function in Facioscapulohumeral Muscular Dystrophy Patients.

The COQ2 genotype predicts the severity of coenzyme Q10 deficiency

The D4Z4 macrosatellite repeat acts as a CTCF and A-type lamins-dependent insulator in facio-scapulo-humeral dystrophy.

The FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1

The French National Registry of patients with Facioscapulohumeral muscular dystrophy

The French Pompe registry. Baseline characteristics of a cohort of 126 patients with adult Pompe disease

The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients