List of works - Marco Savarese

A new case of limb girdle muscular dystrophy 2G in a Greek patient, founder effect and review of the literature

scientific article published on 13 April 2018

Actininopathy: A new muscular dystrophy caused by ACTN2 dominant mutations

scientific article published on 03 April 2019

An unusual ryanodine receptor 1 (RYR1) phenotype: Mild calf-predominant myopathy

scientific article published on 06 March 2019

Are all the previously reported genetic variants in limb girdle muscular dystrophy genes pathogenic?

scientific article published on 22 April 2015

Association study reveals novel risk loci for sporadic inclusion body myositis.

scientific article

Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study

article

Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients

scientific article published on 26 October 2018

Diagnostic anoctamin-5 protein defect in patients with ANO5-mutated muscular dystrophy.

scientific article published on 10 May 2017

Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the <i>HNRNPA1</i> Gene

scientific article published on 27 October 2021

Dominant muscular dystrophy with a novelSYNE1gene mutation

article

Enhancer chip: detecting human copy number variations in regulatory elements

scientific article

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

scientific article published on 21 January 2019

Familial exudative vitreoretinopathy caused by a homozygous mutation in TSPAN12 in a cystic fibrosis infant

scientific article published on 8 July 2013

Familial polyglucosan body myopathy with unusual phenotype

scientific article published on 01 April 2015

Familial trisomy 6p in mother and daughter

GRASP65 and GRASP55 sequentially promote the transport of C-terminal valine-bearing cargos to and through the Golgi complex

scientific article published on 19 October 2009

GYG1 gene mutations in a family with polyglucosan body myopathy

scientific article published on 24 September 2015

Genetic basis of limb-girdle muscular dystrophies: the 2014 update

scientific article published on May 2014

Genotype-phenotype correlations in recessive titinopathies

scientific article published on 11 August 2020

Identification of an intragenic deletion in the SGCB gene through a re-evaluation of negative next generation sequencing results

scientific article published on 31 March 2016

Increasing Role of Titin Mutations in Neuromuscular Disorders.

scientific article published on August 2016

Inflammatory myopathy in a patient with collagen VI mutations

scientific article published on 18 January 2017

Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.

scientific article published on 12 February 2018

Loss of the Otx2-Binding Site in the Nanog Promoter Affects the Integrity of Embryonic Stem Cell Subtypes and Specification of Inner Cell Mass-Derived Epiblast

scientific article published on 8 June 2016

Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway.

scientific article

MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients.

scientific article published on 07 July 2016

MePR: a novel human mesenchymal progenitor model with characteristics of pluripotency.

scientific article published on 24 May 2013

Motor chip: a comparative genomic hybridization microarray for copy-number mutations in 245 neuromuscular disorders

scientific article published on 6 September 2011

MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples.

scientific article

Myoimaging in the NGS era: the discovery of a novel mutation in MYH7 in a family with distal myopathy and core-like features--a case report

scientific article

Next generation sequencing detection of late onset pompe disease

scientific article published on 21 January 2016

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

scientific article published on 30 March 2015

Next-generation sequencing approaches for the diagnosis of skeletal muscle disorders

scientific article

Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F

scientific article published in 2013

Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers

scientific article published on 17 February 2016

Prediction of rare single-nucleotide causative mutations for muscular diseases in pooled next-generation sequencing experiments

scientific article published on 16 July 2014

Prevalence of anti-adeno-associated virus serotype 8 neutralizing antibodies and arylsulfatase B cross-reactive immunologic material in mucopolysaccharidosis VI patient candidates for a gene therapy trial.

scientific article

Steroid therapy in an alpha-dystroglycanopathy due to GMPPB gene mutations: A case report

scientific article published on 19 July 2018

TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations.

scientific article published on 19 February 2018

Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy.

scientific article published on 29 October 2016

Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease

article

The complexity of titin splicing pattern in human adult skeletal muscles

scientific article published on 29 March 2018

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

scientific article published on 08 June 2016

The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis

scientific article

Use of a lower dosage liver-detargeted AAV vector to prevent hamster muscular dystrophy

scientific article

List of works by Marco Savarese

A new case of limb girdle muscular dystrophy 2G in a Greek patient, founder effect and review of the literature

Actininopathy: A new muscular dystrophy caused by ACTN2 dominant mutations

An unusual ryanodine receptor 1 (RYR1) phenotype: Mild calf-predominant myopathy

Are all the previously reported genetic variants in limb girdle muscular dystrophy genes pathogenic?

Association study reveals novel risk loci for sporadic inclusion body myositis.

Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study

Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients

Diagnostic anoctamin-5 protein defect in patients with ANO5-mutated muscular dystrophy.

Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the <i>HNRNPA1</i> Gene

Dominant muscular dystrophy with a novelSYNE1gene mutation

Enhancer chip: detecting human copy number variations in regulatory elements

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

Familial exudative vitreoretinopathy caused by a homozygous mutation in TSPAN12 in a cystic fibrosis infant

Familial polyglucosan body myopathy with unusual phenotype

Familial trisomy 6p in mother and daughter

GRASP65 and GRASP55 sequentially promote the transport of C-terminal valine-bearing cargos to and through the Golgi complex

GYG1 gene mutations in a family with polyglucosan body myopathy

Genetic basis of limb-girdle muscular dystrophies: the 2014 update

Genotype-phenotype correlations in recessive titinopathies

Identification of an intragenic deletion in the SGCB gene through a re-evaluation of negative next generation sequencing results

Increasing Role of Titin Mutations in Neuromuscular Disorders.

Inflammatory myopathy in a patient with collagen VI mutations

Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.

Loss of the Otx2-Binding Site in the Nanog Promoter Affects the Integrity of Embryonic Stem Cell Subtypes and Specification of Inner Cell Mass-Derived Epiblast

Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway.

MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients.

MePR: a novel human mesenchymal progenitor model with characteristics of pluripotency.

Motor chip: a comparative genomic hybridization microarray for copy-number mutations in 245 neuromuscular disorders

MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples.

Myoimaging in the NGS era: the discovery of a novel mutation in MYH7 in a family with distal myopathy and core-like features--a case report

Next generation sequencing detection of late onset pompe disease

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

Next-generation sequencing approaches for the diagnosis of skeletal muscle disorders

Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F

Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers

Prediction of rare single-nucleotide causative mutations for muscular diseases in pooled next-generation sequencing experiments

Prevalence of anti-adeno-associated virus serotype 8 neutralizing antibodies and arylsulfatase B cross-reactive immunologic material in mucopolysaccharidosis VI patient candidates for a gene therapy trial.

Steroid therapy in an alpha-dystroglycanopathy due to GMPPB gene mutations: A case report

TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations.

Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy.

Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease

The complexity of titin splicing pattern in human adult skeletal muscles

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

The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis

Use of a lower dosage liver-detargeted AAV vector to prevent hamster muscular dystrophy