E. Malfatti

发表

G.O.2 Mutations in LMOD3 cause severe nemaline myopathy by disrupting thin filament organisation in skeletal muscle

E. Bertini, K. Pelin, M. Lek, 2014, Neuromuscular Disorders.

An Integrated Diagnosis Strategy for Congenital Myopathies

E. Malfatti, N. Romero, V. Biancalana, 2013, PloS one.

Glycogenin-1 deficiency mimicking limb-girdle muscular dystrophy

F. Chapon, E. Malfatti, R. Carlier, 2020, Molecular genetics and metabolism reports.

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.

S. Gabriel, M. Daly, D. MacArthur, 2014, The Journal of clinical investigation.

Autosomal dominant eccentric core disease caused by a heterozygous mutation in the MYH7 gene

E. Malfatti, N. Romero, Fengping Xu, 2014, Journal of Neurology, Neurosurgery & Psychiatry.

Sporadic myopathy, myoclonus, leukoencephalopathy, neurosensory deafness, hypertrophic cardiomyopathy and insulin resistance associated with the mitochondrial 8306 T>C MTTK mutation

E. Malfatti, A. Federico, A. Malandrini, 2012, Journal of the Neurological Sciences.

Progressive mitochondrial myopathy, deafness, and sporadic seizures associated with a novel mutation in the mitochondrial tRNASer(AGY) gene

E. Malfatti, A. Federico, M. Dotti, 2011, Journal of the Neurological Sciences.

A novel point mutation in the mitochondrial tRNA(Trp) gene produces late-onset encephalomyopathy, plus additional features

E. Malfatti, A. Federico, A. Malandrini, 2010, Journal of the Neurological Sciences.

Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations.

E. Malfatti, N. Romero, J. Mandel, 2014, Brain : a journal of neurology.

Late-onset camptocormia caused by a heterozygous in-frame CAPN3 deletion

L. Brunereau, E. Malfatti, I. Richard, 2021, Neuromuscular Disorders.

Respiratory muscle involvement in HNRNPDL LGMD D3 muscular dystrophy: an extensive clinical description of the first Italian patient

E. Malfatti, M. Villanova, A. Rubegni, 2020, Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology.

Calpaïnopathies

E. Malfatti, Isabelle Richard, I. Richard, 2020, médecine/sciences.

European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A)

E. Mercuri, E. Malfatti, R. Carlier, 2019, Journal of Neurology.

A new congenital multicore titinopathy associated with fast myosin heavy chain deficiency

M. Koenig, E. Malfatti, N. Romero, 2020, Annals of clinical and translational neurology.

The importance of an integrated genotype-phenotype strategy to unravel the molecular bases of titinopathies

S. Lehmann, M. Koenig, F. Rivier, 2020, Neuromuscular Disorders.

ACTN2 mutations cause “Multiple structured Core Disease” (MsCD)

E. Malfatti, L. Medne, C. Bönnemann, 2019, Acta Neuropathologica.

Loss of Sarcomeric Scaffolding as a Common Baseline Histopathologic Lesion in Titin-Related Myopathies

I. Nelson, E. Malfatti, N. Romero, 2018, Journal of neuropathology and experimental neurology.

Sarcomeric disorganization and nemaline bodies in muscle biopsies of patients with EXOSC3‐related type 1 pontocerebellar hypoplasia

E. Malfatti, N. Romero, E. Tizzano, 2018, Muscle & nerve.

Human muscle-derived CLEC14A-positive cells regenerate muscle independent of PAX7

C. Kocks, N. Rajewsky, A. Spuler, 2019, Nature Communications.

Case Report: A Novel AChR Epsilon Variant Causing a Clinically Discordant Salbutamol Responsive Congenital Myasthenic Syndrome in Two Egyptian Siblings

E. Malfatti, S. Quijano-roy, P. Blondy, 2022, Frontiers in Neurology.

Clinical heterogeneity and phenotype / genotype findings in 5 families with ITGYG 1 IT deficiency

I. Nelson, E. Malfatti, N. Romero, 2019 .

Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency

I. Nelson, E. Malfatti, N. Romero, 2017, Neurology: Genetics.

ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy

W. Newman, E. Malfatti, N. Romero, 2017, Human mutation.

A new muscle glycogen storage disease associated with glycogenin‐1 deficiency

S. Dimauro, E. Malfatti, N. Romero, 2014, Annals of neurology.

Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion

B. Brais, G. Blanco, E. Malfatti, 2017, Brain : a journal of neurology.

251st ENMC international workshop: Polyglucosan storage myopathies 13–15 December 2019, Hoofddorp, the Netherlands

E. Malfatti, P. Laforêt, J. Vissing, 2021, Neuromuscular Disorders.

Molecular Mechanisms of Diaphragm Myopathy in Humans with Severe Heart Failure.

J. Garbade, E. Malfatti, C. Ottenheijm, 2021, Circulation research.

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

E. Malfatti, N. Romero, I. Nishino, 2019, Acta Neuropathologica Communications.

Proteomic characterisation of polyglucosan bodies in skeletal muscle in RBCK1 deficiency

M. Roberts, E. Malfatti, A. Oldfors, 2021, Neuropathology and applied neurobiology.

High risk of severe cardiac adverse events in patients with mitochondrial m.3243A>G mutation

E. Malfatti, P. Laforêt, B. Eymard, 2013, Neurology.

An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort of 156 Families

M. Koenig, F. Rivier, E. Malfatti, 2021, Genes.

A new titinopathy

I. Nelson, E. Malfatti, N. Romero, 2015, Neurology.

GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome

R. Finkel, K. Bushby, J. Jaiswal, 2020, Annals of neurology.

Duchenne muscular dystrophy trajectory in R-DMDdel52 preclinical rat model identifies COMP as biomarker of fibrosis

E. Malfatti, F. Authier, F. Relaix, 2022, Acta neuropathologica communications.

KBTBD13 is an actin-binding protein that modulates muscle kinetics.

Christopher N. Johnson, R. Bryson-Richardson, R. Rodenburg, 2020, The Journal of clinical investigation.

Nemaline myopathies: State of the art.

E. Malfatti, N. Romero, N. Romero, 2016, Revue neurologique.

Mild clinical presentation in KLHL40-related nemaline myopathy (NEM 8)

L. Servais, E. Malfatti, N. Romero, 2016, Neuromuscular Disorders.

A Premature Stop Codon in MYO18B is Associated with Severe Nemaline Myopathy with Cardiomyopathy

E. Malfatti, N. Romero, J. Böhm, 2015, Neuromuscular Disorders.

Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype

K. Pelin, V. Lehtokari, E. Malfatti, 2014, Acta neuropathologica communications.

Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype

K. Pelin, V. Lehtokari, E. Malfatti, 2014, Acta Neuropathologica Communications.

Genotype–phenotype correlations in valosin-containing protein disease: a retrospective muticentre study

Sruthi S. Nair, K. Claeys, E. Malfatti, 2022, Journal of Neurology, Neurosurgery, and Psychiatry.

‘Dusty core disease’ (DuCD): expanding morphological spectrum of RYR1 recessive myopathies

E. Malfatti, N. Romero, J. Rendu, 2019, Acta neuropathologica communications.

The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy

E. Bertini, B. Schlotter-Weigel, E. Malfatti, 2020, Neurology.

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

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

Phenotypic Spectrum of Myopathies with Recessive Anoctamin-5 Mutations.

E. Malfatti, R. Carlier, P. Laforêt, 2020, Journal of neuromuscular diseases.

Dihydropyridine receptor ( DHPR ) congenital myopathy

F. Muntoni, T. Pierson, E. Malfatti, 2018 .

Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy

F. Muntoni, T. Pierson, E. Malfatti, 2017, Acta Neuropathologica.

Clinical, histological, and genetic characterization of PYROXD1-related myopathy

E. Malfatti, N. Romero, A. Echaniz-Laguna, 2019, Acta Neuropathologica Communications.

Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy.

M. Zeviani, E. Malfatti, E. Lamantea, 2007, Brain : a journal of neurology.

Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients

L. Mesrob, B. Banwell, E. Malfatti, 2017, Neuromuscular Disorders.

A second MNGIE patient without typical mitochondrial skeletal muscle involvement

E. Malfatti, A. Federico, A. Malandrini, 2010, Neurological Sciences.

Bilateral foot-drop as predominant symptom in nebulin (NEB) gene related "core-rod" congenital myopathy.

V. Lehtokari, E. Malfatti, N. Romero, 2015, European journal of medical genetics.

Rescue of GSDIII Phenotype with Gene Transfer Requires Liver- and Muscle-Targeted GDE Expression.

G. Comi, E. Malfatti, I. Richard, 2017, Molecular therapy : the journal of the American Society of Gene Therapy.

Generation of two isogenic induced pluripotent stem cell lines from a 10-year-old typical nemaline myopathy patient with a heterozygous dominant c.541G>A (p.Asp179Asn) pathogenic variant in the ACTA1 gene.

Joshua S. Clayton, G. Ravenscroft, E. Malfatti, 2021, Stem cell research.

Skeletal muscle biopsy analysis in reducing body myopathy and other FHL1-related disorders.

D. Figarella-Branger, E. Malfatti, N. Romero, 2013, Journal of neuropathology and experimental neurology.

Interferon-gamma mediates skeletal muscle lesions through JAK/STAT pathway activation in inclusion body myositis

E. Malfatti, F. Authier, F. Relaix, 2021, bioRxiv.

Combined cap disease and nemaline myopathy in the same patient caused by an autosomal dominant mutation in the TPM3 gene

F. Chapon, E. Malfatti, N. Romero, 2013, Neuromuscular Disorders.

Tubular aggregate myopathy with features of Stormorken disease due to a new STIM1 mutation

E. Malfatti, N. Romero, R. Carlier, 2017, Neuromuscular Disorders.

CASQ1 mutations impair calsequestrin polymerization and cause tubular aggregate myopathy

E. Malfatti, N. Romero, C. Birck, 2017, Acta Neuropathologica.

Late Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) Myopathy Misdiagnosed as Polymyositis.

E. Malfatti, P. Laforêt, A. Barp, 2019, Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases.

Recessive MYPN mutations cause cap myopathy with occasional nemaline rods

E. Malfatti, N. Romero, R. Carlier, 2017, Annals of neurology.

Diseases of the skeletal muscle.

E. Malfatti, N. Romero, 2017, Handbook of Clinical Neurology.

Congenital Nemaline Myopathy with Dense Protein Masses.

E. Malfatti, N. Romero, J. Rendu, 2022, Journal of neuropathology and experimental neurology.

Mutation‐specific effects on thin filament length in thin filament myopathy

K. Pelin, B. Engelen, V. Lehtokari, 2016, Annals of neurology.

Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores.

E. Malfatti, C. Ottenheijm, C. Bönnemann, 2020, American journal of human genetics.

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.

S. Gabriel, M. Daly, D. MacArthur, 2015, The Journal of clinical investigation.

Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu.

G. Comi, V. Tiranti, M. Zeviani, 2007, American journal of human genetics.

Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions

J. Kere, A. Goris, S. Hofbauer, 2019, Nature Communications.

X-linked Emery–Dreifuss muscular dystrophy manifesting with adult onset axial weakness, camptocormia, and minimal joint contractures

E. Malfatti, N. Romero, R. Carlier, 2019, Neuromuscular Disorders.

New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy.

G. Comi, B. Koritnik, K. Claeys, 2020, Brain : a journal of neurology.

Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort

F. Rivier, C. Béroud, E. Malfatti, 2021, Journal of Neurology.

PABPN1 (GCN)11 as a Dominant Allele in Oculopharyngeal Muscular Dystrophy –Consequences in Clinical Diagnosis and Genetic Counselling

E. Malfatti, N. Romero, B. Eymard, 2015, Journal of neuromuscular diseases.

Muscle histone deacetylase 4 upregulation in amyotrophic lateral sclerosis: potential role in reinnervation ability and disease progression.

V. Meininger, F. Salachas, E. Malfatti, 2013, Brain : a journal of neurology.

Diagnostic des myopathies congénitales

E. Malfatti, M. Bisciglia, 2020 .

Thyroid-stimulating hormone receptor signaling restores skeletal muscle stem cell regeneration in rats with muscular dystrophy

E. Malfatti, F. Authier, F. Relaix, 2023, Science Translational Medicine.

A novel neuromuscular form of glycogen storage disease type IV with arthrogryposis, spinal stiffness and rare polyglucosan bodies in muscle

E. Malfatti, N. Romero, R. Carlier, 2016, Neuromuscular Disorders.

NEM6, KBTBD13-Related Congenital Myopathy: Myopathological Analysis in 18 Dutch Patients Reveals Ring Rods Fibers, Cores, Nuclear Clumps, and Granulo-Filamentous Protein Material.

E. Malfatti, C. Ottenheijm, N. Romero, 2021, Journal of neuropathology and experimental neurology.

MOLECULAR NEUROGENETICS OF MITOCHONDRIAL DISEASES

E. Malfatti, A. Federico, E. Cardaioli, 2009 .

Chronic progressive external ophthalmoplegia: A new heteroplasmic tRNALeu(CUN) mutation of mitochondrial DNA

E. Malfatti, A. Malandrini, A. Federico, 2008, Journal of the Neurological Sciences.

A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy

Christopher E. Berndsen, E. Malfatti, N. Romero, 2017, PloS one.

Convergence of patient- and physician-reported outcomes in the French National Registry of Facioscapulohumeral Dystrophy

F. Rivier, C. Béroud, F. Chapon, 2022, Orphanet Journal of Rare Diseases.

‘Dusty core disease’ (DuCD): expanding morphological spectrum of RYR1 recessive myopathies

E. Malfatti, N. Romero, J. Rendu, 2019, Acta neuropathologica communications.

A novel heteroplasmic tRNASer(UCN) mtDNA point mutation associated with progressive external ophthalmoplegia and hearing loss

E. Malfatti, A. Federico, A. Malandrini, 2007, Neuromuscular Disorders.

Cylindrical spirals associated with severe congenital muscle weakness and epileptic encephalopathy

E. Malfatti, M. Fardeau, M. Chaves, 2015, Muscle & nerve.

Novel Phenotypes and Cardiac Involvement Associated With DNA2 Genetic Variants

E. Malfatti, N. Romero, T. Stojkovic, 2019, Front. Neurol..

Clinical and imaging hallmarks of the MYH7‐related myopathy with severe axial involvement

L. Mesrob, A. D’Amico, E. Malfatti, 2018, Muscle & nerve.

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

E. Malfatti, N. Romero, I. Nishino, 2019, Acta Neuropathologica Communications.

Clinical, histological, and genetic characterization of PYROXD1-related myopathy

E. Malfatti, N. Romero, A. Echaniz-Laguna, 2019, Acta Neuropathologica Communications.

Dysfunctional sarcomere contractility contributes to muscle weakness in ACTA1‐related nemaline myopathy (NEM3)

T. Irving, E. Malfatti, C. Ottenheijm, 2018, Annals of neurology.

Metabolic Myopathies in the Era of Next-Generation Sequencing

E. Malfatti, J. Urtizberea, Gianmarco Severa, 2023, Genes.

NG.O.10 CASQ1 mutations impair calsequestrin polymerization and cause tubular aggregate myopathy

E. Malfatti, M. Mora, J. Böhm, 2017, Neuromuscular Disorders.

Human light meromyosin mutations linked to skeletal myopathies disrupt the coiled coil structure and myosin head sequestration

K. Campbell, H. Iwamoto, A. D’Amico, 2023, bioRxiv.

A novel mutation in the mitochondrial tRNAPro gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency

M. Zeviani, E. Malfatti, A. Federico, 2009, European Journal of Human Genetics.

Expanding the spectrum of congenital myopathy linked to recessive mutations in SCN4A

E. Malfatti, N. Romero, A. Boland, 2017, Neurology.

Clinical correlations and long‐term follow‐up in 100 patients with sarcoglycanopathies

E. Malfatti, N. Romero, I. Richard, 2020, European journal of neurology.

Juvenile-onset permanent weakness in muscle phosphofructokinase deficiency

E. Malfatti, N. Romero, J. Hogrel, 2012, Journal of the Neurological Sciences.

A novel dynamin-2 gene mutation associated with a late-onset centronuclear myopathy with necklace fibres

E. Malfatti, N. Romero, A. Oldfors, 2015, Neuromuscular Disorders.

Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy

E. Malfatti, N. Romero, V. Biancalana, 2018, Acta neuropathologica communications.

Biallelic mutations in Tenascin-X cause classical-like Ehlers-Danlos syndrome with slowly progressive muscular weakness

E. Malfatti, R. Carlier, P. Laforêt, 2020, Neuromuscular Disorders.

Deep Characterization of a Greek Patient with Desmin-Related Myofibrillar Myopathy and Cardiomyopathy

E. Malfatti, C. Papadopoulos, B. Keren, 2023, International journal of molecular sciences.

Rigid spine syndrome associated with sensory‐motor axonal neuropathy resembling Charcot–Marie‐Tooth disease is characteristic of Bcl‐2‐associated athanogene‐3 gene mutations even without cardiac involvement

E. Malfatti, T. Maisonobe, T. Stojkovic, 2018, Muscle & nerve.

Novel ASCC1 mutations causing prenatal-onset muscle weakness with arthrogryposis and congenital bone fractures

E. Malfatti, N. Romero, A. Boland, 2018, Journal of Medical Genetics.

Generation of two isogenic induced pluripotent stem cell lines from a 4-month-old severe nemaline myopathy patient with a heterozygous dominant c.553C > A (p.Arg183Ser) variant in the ACTA1 gene.

Joshua S. Clayton, G. Ravenscroft, E. Malfatti, 2021, Stem cell research.

Phosphoglycerate kinase deficiency: A nationwide multicenter retrospective study

E. Malfatti, A. Echaniz-Laguna, P. Laforêt, 2019, Journal of inherited metabolic disease.

Late-onset polyglucosan body myopathy in five patients with a homozygous mutation in GYG1

S. Dimauro, E. Malfatti, N. Romero, 2016, Neuromuscular Disorders.

G.O.10 Exome sequencing identifies novel truncating TTN mutations with Emery–Dreifuss like muscular dystrophy and secondary calpain3 deficiency without cardiac abnormality

I. Nelson, E. Malfatti, N. Romero, 2015, Neuromuscular Disorders.

An early onset benign myopathy with glycogen storage caused by a de novo 1.4 Mb-deletion of chromosome 14

E. Malfatti, R. Carlier, L. Tosca, 2023, Neuromuscular Disorders.

P.11 A novel DNAJB6 mutation causing variable phenotypic expression: From distal myopathy to limb girdle muscular dystrophy

F. Chapon, E. Malfatti, A. Laquérriere, 2016, Neuromuscular Disorders.

Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis.

Yoshihiko Saito, K. Claeys, E. Malfatti, 2023, Journal of neurology.

Update on new muscle glycogenosis

E. Malfatti, P. Laforêt, J. Vissing, 2017, Current opinion in neurology.

A novel homozygous ALPK3 variant associated with cardiomyopathy and skeletal muscle involvement

E. Malfatti, A. Anastasakis, C. Papadopoulos, 2021, Muscle & nerve.

Inclusion body myositis and human immunodeficiency virus type 1: A new case report and literature review

E. Malfatti, Z. Amoura, P. Cherin, 2018, Neuromuscular Disorders.

Systemic light chain amyloidosis myopathy responsive to daratumumab monotherapy

E. Malfatti, P. Laforêt, F. Authier, 2022, European journal of 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.

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.

S. Gabriel, M. Daly, D. MacArthur, 2014, The Journal of clinical investigation.