M. Savarese

发表

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

N. Brunetti‐Pierri, G. Andria, Pamela Claudiani, 2015, Human gene therapy.

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

V. Nigro, M. Savarese, 2014, Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology.

Is Gene-Size an Issue for the Diagnosis of Skeletal Muscle Disorders?

B. Udd, M. Savarese, P. Hackman, 2020, Journal of neuromuscular diseases.

Increasing Role of Titin Mutations in Neuromuscular Disorders

B. Udd, A. Vihola, M. Savarese, 2016, Journal of neuromuscular diseases.

Biallelic loss-of-function OBSCN variants predispose individuals to severe, recurrent rhabdomyolysis

A. Forrest, G. Ravenscroft, N. Laing, 2021, bioRxiv.

Panorama of the distal myopathies

B. Udd, A. Vihola, M. Savarese, 2020, Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology.

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

N. Bresolin, G. Comi, S. Corti, 2018, Neuromuscular Disorders.

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

G. Piluso, A. Auricchio, M. Iacomino, 2013, Human gene therapy.

Association study reveals novel risk loci for sporadic inclusion body myositis

N. Sandholm, M. Mirabella, H. Lohi, 2017, European journal of neurology.

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

J. Pouget, G. Tasca, B. Udd, 2017, Molecular Neurobiology.

The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene

G. Piluso, T. Giugliano, L. Politano, 2020, PloS one.

Next generation sequencing detection of late onset pompe disease

C. Angelini, V. Nigro, M. Fanin, 2016, Muscle & nerve.

Novel TNNT1 mutation and mild nemaline myopathy phenotype in an Italian patient

S. Servidei, B. Udd, A. Petrucci, 2021, Neuromuscular Disorders.

Use of animal models to understand titin physiology and pathology

B. Udd, M. Savarese, Matteo Marcello, 2022, Journal of cellular and molecular medicine.

Adult‐onset dominant muscular dystrophy in Greek families caused by Annexin A11

B. Udd, C. Papadopoulos, M. Savarese, 2022, Annals of clinical and translational neurology.

Valosin‐containing protein‐related myopathy and Meige syndrome: Just a coincidence or not?

E. Malfatti, E. Anagnostou, B. Udd, 2019, Muscle & nerve.

An unusual ryanodine receptor 1 (RYR1) phenotype

M. Pane, E. Mercuri, P. Hartikainen, 2019, Neurology.

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

E. Bertini, A. D’Amico, C. Bruno, 2016, Neuromuscular Disorders.

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

F. Santorelli, R. Massa, A. Petrucci, 2016, BMC Medical Genetics.

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

G. Comi, C. Angelini, C. Bruno, 2018, Neuromuscular Disorders.

Dominant muscular dystrophy with a novel SYNE1 gene mutation

C. Angelini, A. Nascimbeni, V. Nigro, 2015, Muscle & nerve.

Mutation update for the ACTN2 gene

J. Böhm, J. Laporte, B. Udd, 2022, Human mutation.

Differential effects of mutations of POPDC proteins on heteromeric interaction and membrane trafficking

G. Tasca, S. Rinné, N. Decher, 2023, Acta Neuropathologica Communications.

Differential Effects of Mutations of Popeye Domain Containing Proteins on Heteromeric Interaction and Membrane Trafficking

G. Tasca, S. Rinné, N. Decher, 2022, bioRxiv.

219th ENMC International Workshop Titinopathies International database of titin mutations and phenotypes, Heemskerk, The Netherlands, 29 April–1 May 2016

C. Bönnemann, A. Beggs, M. Gautel, 2017, Neuromuscular Disorders.

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

N. Bresolin, G. Comi, S. Corti, 2017, Muscle & nerve.

Congenital myopathies: clinical phenotypes and new diagnostic tools

G. Comi, E. Bertini, M. Pane, 2017, Italian Journal of Pediatrics.

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

V. Nigro, M. Savarese, 2016, Current opinion in neurology.

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

G. Comi, C. Bruno, F. Santorelli, 2014, Acta neuropathologica communications.

Next-Generation Sequencing Identifies Transportin 3 as the Causative Gene for LGMD1F

C. Angelini, G. Siciliano, G. Piluso, 2013, PloS one.

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

K. Claeys, T. Stojkovic, W. Kress, 2019, Journal of Neurology.

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

F. Santorelli, G. Piluso, T. Giugliano, 2011, Clinical chemistry.

GRASP65 and GRASP55 Sequentially Promote the Transport of C-terminal Valine-bearing Cargos to and through the Golgi Complex*

G. Beznoussenko, P. Marra, G. D’Angelo, 2009, The Journal of Biological Chemistry.

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.

A. Simeone, D. Acampora, Daniela Omodei, 2016, Cell reports.

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

L. Altucci, M. Cancemi, A. Carissimo, 2013, Stem cells and development.

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

M. Mutarelli, V. Nigro, M. Savarese, 2014, European Journal of Human Genetics.

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

L. Santoro, C. Angelini, K. Claes, 2015, Neuromuscular Disorders.

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

A. Ballabio, S. Banfi, T. Braulke, 2015, Autophagy.

Enhancer Chip: Detecting Human Copy Number Variations in Regulatory Elements

G. Neri, G. Piluso, T. Giugliano, 2012, PloS one.

Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the HNRNPA1 Gene

P. Lahermo, B. Udd, A. Vihola, 2021, Neurology: Genetics.

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2021, European Journal of Human Genetics.

Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2021, European Journal of Human Genetics.

Familial Exudative Vitreoretinopathy caused by a Homozygous Mutation in TSPAN12 in a Cystic Fibrosis Infant

F. Semeraro, F. Morescalchi, V. Nigro, 2014, Ophthalmic genetics.

A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis

L. Vissers, A. Hoischen, J. Clayton-Smith, 2021, European Journal of Human Genetics.

Improving copy number variant detection from sequencing data with a combination of programs and a predictive model.

Salla Välipakka, Marco Savarese, Lydia Sagath, 2019, The Journal of molecular diagnostics : JMD.

Genotype–phenotype correlations in recessive titinopathies

M. Pane, E. Mercuri, F. Muntoni, 2020, Genetics in Medicine.

The complexity of titin splicing pattern in human adult skeletal muscles

P. Auvinen, L. Paulin, B. Udd, 2018, Skeletal Muscle.

Inflammatory myopathy in a patient with collagen VI mutations

C. Bruno, C. Minetti, M. Iacomino, 2018, Scandinavian journal of rheumatology.

Familial polyglucosan body myopathy with unusual phenotype

C. Angelini, G. Cenacchi, V. Nigro, 2015, Neuropathology and applied neurobiology.

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

G. Comi, E. Bertini, P. Striano, 2018, Orphanet Journal of Rare Diseases.

The genetic basis of undiagnosed muscular dystrophies and myopathies

G. Comi, E. Bertini, E. Mercuri, 2016, Neurology.

Familial trisomy 6p in mother and daughter

G. Piluso, L. Perrone, E. D. del Giudice, 2013, American Journal of Medical Genetics. Part A.

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

G. Comi, E. Bertini, E. Mercuri, 2018, Genes.

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

C. Angelini, G. Piluso, T. Giugliano, 2016, Neuromuscular Disorders.

Identification and Characterization of Splicing Defects by Single-Molecule Real-Time Sequencing Technology (PacBio).

P. Auvinen, L. Paulin, G. Piluso, 2020, Journal of neuromuscular diseases.

TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations

J. Taylor, H. Goebel, P. Chinnery, 2018, The Journal of clinical investigation.

M. Pane, E. Mercuri, L. Santoro, 2016, Orphanet Journal of Rare Diseases.

P.260 Pseudo-dominant inheritance of a novel homozygous HACD1 mutation associated with congenital myopathy: The first caucasian family

V. Emmanuele, M. Moggio, C. Rodolico, 2017, Neuromuscular Disorders.

Long‐term favorable prognosis in late onset dominant distal titinopathy: Tibial muscular dystrophy

N. Sandholm, B. Udd, M. Savarese, 2023, European journal of neurology.

Mutations in the J domain of DNAJB6 cause dominant distal myopathy

E. Kerty, I. Nishino, M. Nakagawa, 2019, Neuromuscular Disorders.

Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)

I. Nelson, C. Gilissen, P. Chinnery, 2021, European Journal of Human Genetics.

Solving unsolved rare neurological diseases—a Solve-RD viewpoint

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2021, European Journal of Human Genetics.

Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions

G. Comi, N. Romero, G. Piluso, 2021, Acta Neuropathologica.

Bi-Allelic DES Gene Variants Causing Autosomal Recessive Myofibrillar Myopathies Affecting Both Skeletal Muscles and Cardiac Function

L. Politano, V. Nigro, E. Picillo, 2022, International journal of molecular sciences.

The crucial role of titin in fetal development: recurrent miscarriages and bone, heart and muscle anomalies characterise the severe end of titinopathies spectrum

M. McEntagart, A. Brusco, E. Giorgio, 2022, medRxiv.

Interpreting Genetic Variants in Titin in Patients With Muscle Disorders

Marika Pane, Claudio Bruno, Lucio Santoro, 2018, JAMA neurology.

TIA 1 variant drives myodegeneration in multisystem proteinopathy with SQSTM 1 mutations

J. Taylor, H. Goebel, P. Chinnery, 2018 .

Actininopathy: A new muscular dystrophy caused by ACTN2 dominant mutations

F. García‐Bragado, B. Udd, J. Weinberg, 2019, Annals of neurology.

Comprehensive transcriptomic analysis shows disturbed calcium homeostasis and deregulation of T lymphocyte apoptosis in inclusion body myositis

B. Udd, J. Palmio, A. Vihola, 2021, bioRxiv.

Exome Sequencing Reveals Novel TTN Variants in Saudi Patients with Congenital Titinopathies.

N. Kaya, D. Çolak, B. Udd, 2021, Genetic testing and molecular biomarkers.

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

B. Brais, I. Richard, B. Eymard, 2018, Neuropathology and applied neurobiology.

GYG1 gene mutations in a family with polyglucosan body myopathy

C. Angelini, A. Torella, V. Nigro, 2015, Neurology: Genetics.

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

G. Andria, G. Parenti, P. Strisciuglio, 2018, Neuromuscular Disorders.

The Italian LGMD registry : relative frequency , clinical features , and differential diagnosis

Tiziana, N. Bresolin, G. Comi, 2016 .

Correction: Differential effects of mutations of POPDC proteins on heteromeric interaction and membrane trafficking

G. Tasca, S. Rinné, N. Decher, 2023, Acta Neuropathologica Communications.

Novel Compound Heterozygous Splice-Site Variants in TPM3 Revealed by RNA Sequencing in a Patient with an Unusual Form of Nemaline Myopathy: A Case Report

A. Paetau, K. Pelin, V. Lehtokari, 2023, Journal of neuromuscular diseases.

Copy number variation analysis increases the diagnostic yield in muscle diseases

K. Pelin, A. López de Munain, A. Sáenz, 2017, Neurology: Genetics.

Prediction of Rare Single-Nucleotide Causative Mutations for Muscular Diseases in Pooled Next-Generation Sequencing Experiments

Mario Rosario Guarracino, Maria Brigida Ferraro, Marco Savarese, 2014, J. Comput. Biol..

Biallelic truncating variants in children with titinopathy represent a recognizable condition with distinctive muscular and cardiac characteristics: a report on five patients

A. Amodeo, A. Novelli, A. Secinaro, 2023, Frontiers in cardiovascular medicine.

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2023, Human Genomics.

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

L. Wilkins, G. Comi, E. Bertini, 2016, Neurology.

Clinical and functional characterization of a long survivor congenital titinopathy patient with a novel metatranscript-only titin variant

E. Malfatti, C. Ottenheijm, N. Romero, 2023, Acta Neuropathologica Communications.

Haplotype information of large neuromuscular disease genes provided by linked-read sequencing has a potential to increase diagnostic yield

K. Pelin, V. Lehtokari, A. Sulonen, 2024, Scientific reports.

Titin copy number variations associated with dominant inherited phenotypes

L. Guyant‐Maréchal, G. Demidov, B. Udd, 2023, Journal of Medical Genetics.

Scapuloperoneal syndrome with mitochondrial DNA deletion

J. Karamchandani, B. Udd, E. O'ferrall, 2022, Journal of the Neurological Sciences.

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

G. Comi, C. Angelini, C. Bruno, 2018, Neuromuscular Disorders.