List of works - Sabrina Sacconi

A unifying genetic model for facioscapulohumeral muscular dystrophy

scientific article

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

scientific article (publication date: 11 November 2012)

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

scientific article

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

scientific article published in August 2005

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

scientific article (publication date: October 2013)

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

scientific article

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

scientific article

Mitochondrial DNA depletion and dGK gene mutations

scientific article (publication date: September 2002)

Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency.

scientific article published on March 2012

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

scientific article published on 18 June 2010

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

scientific article

A functionally dominant mitochondrial DNA mutation

scientific article

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

scientific article published in May 2008

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

scientific article published in April 2010

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

scientific article

Mutation screening in patients with isolated cytochrome c oxidase deficiency

scientific article (publication date: February 2003)

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

scientific article

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

scientific article

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

scientific article (publication date: May 2002)

A novel CRYAB mutation resulting in multisystemic disease

scientific article published on 14 September 2011

Hierarchization of myogenic and adipogenic progenitors within human skeletal muscle.

scientific article published in December 2010

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

scientific article published on 15 September 2011

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

scientific article (publication date: 20 August 2013)

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

scientific article published on 08 June 2016

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

scientific article published on 5 February 2016

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

scientific article

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

scientific article published on 30 March 2015

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

scientific article published on 27 February 2013

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

scientific article published on 7 October 2011

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

scientific article published in August 2005

Facioscapulohumeral muscular dystrophy

scientific article published on 29 May 2014

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

scientific article

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

scientific article published on 28 May 2015

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

scientific article published on 01 August 2013

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

scientific article

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

scientific article

Pain assessment in Charcot-Marie-Tooth (CMT) disease

scientific article published on March 6, 2012

The COQ2 genotype predicts the severity of coenzyme Q10 deficiency

scientific journal article

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

scientific article

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

scientific article

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

scientific article

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

scientific article published in November 2002

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

scientific article published on 06 March 2017

Dehydroepiandrosterone for myotonic dystrophy type 1.

scientific article published on August 2008

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

scientific article published on 18 January 2018

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

scientific article

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

scientific article

Diagnostic challenges in facioscapulohumeral muscular dystrophy

scientific article published on 01 October 2006

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

scientific article published on 13 October 2016

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

scientific article published on 30 April 2013

List of works by Sabrina Sacconi

A unifying genetic model for facioscapulohumeral muscular dystrophy

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

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

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

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

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

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

Mitochondrial DNA depletion and dGK gene mutations

Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency.

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

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

A functionally dominant mitochondrial DNA mutation

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

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

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

Mutation screening in patients with isolated cytochrome c oxidase deficiency

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

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

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

A novel CRYAB mutation resulting in multisystemic disease

Hierarchization of myogenic and adipogenic progenitors within human skeletal muscle.

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

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

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

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

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

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

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

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

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

Facioscapulohumeral muscular dystrophy

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

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

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

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

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

Pain assessment in Charcot-Marie-Tooth (CMT) disease

The COQ2 genotype predicts the severity of coenzyme Q10 deficiency

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

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

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

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

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

Dehydroepiandrosterone for myotonic dystrophy type 1.

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

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

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

Diagnostic challenges in facioscapulohumeral muscular dystrophy

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

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