N. Romero

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.

A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course

N. Romero, L. Pasquier, S. Mercier, 2021, Acta neuropathologica communications.

An Integrated Diagnosis Strategy for Congenital Myopathies

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

Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia.

N. Romero, L. Viollet, J. Leroy, 2003, Brain : a journal of neurology.

Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization

K. Claeys, A. Laquérriere, N. Romero, 2011, Neuropathology and applied neurobiology.

Mutations in dynamin 2 cause dominant centronuclear myopathy

A. Beggs, N. Romero, H. Lochmüller, 2005, Nature Genetics.

Two new cases of mitochondrial myopathy with exercise intolerance, hyperlactatemia and cardiomyopathy, caused by recessive SLC25A4 mutations.

N. Romero, J. Hogrel, P. Laforêt, 2017, Mitochondrion.

Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea.

L. Servais, I. Nelson, N. Romero, 2016, American journal of human genetics.

Mutations in TPM3 are a common cause of congenital fiber type disproportion

N. Romero, N. Laing, N. Clarke, 2008, Annals of neurology.

Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy.

D. Figarella-Branger, N. Romero, J. Pouget, 2013, American journal of human genetics.

Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1

S. Dimauro, N. Romero, A. Engel, 2013, Annals of neurology.

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.

Specific heterozygous frameshift variants in hnRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy

Courtney E. French, F. Muntoni, M. Tarnopolsky, 2021, medRxiv.

A recessive form of central core disease, transiently presenting as multi‐minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene

A. Lemainque, C. Bönnemann, N. Romero, 2002, Annals of neurology.

ASC‐1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy

S. Coppens, E. Pierce-Hoffman, L. Servais, 2019, Annals of neurology.

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

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

Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1

N. Romero, E. Ricci, L. Morandi, 2014, Journal of Medical Genetics.

N. Romero, T. Evangelista, J. Laporte, 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.

Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin.

K. Pelin, F. Muntoni, H. Goebel, 2004, Neuromuscular disorders : NMD.

Telethonin-deficiency initially presenting as a congenital muscular dystrophy

N. Romero, A. Ferreiro, M. Fardeau, 2011, Neuromuscular Disorders.

Expression of myogenic regulatory factors and myo-endothelial remodeling in sporadic inclusion body myositis

H. Budka, N. Romero, G. Butler-Browne, 2013, Neuromuscular Disorders.

Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth

G. Ravenscroft, E. Todd, N. Romero, 2015, Orphanet Journal of Rare Diseases.

Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus, and cerebellar ataxia.

A. Munnich, P. Rustin, A. Rötig, 1992, American journal of human genetics.

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.

Current protocol of a research phase I clinical trial of full-length dystrophin plasmid DNA in Duchenne/Becker muscular dystrophies Part II: clinical protocol

N. Romero, S. Braun, M. Fardeau, 2002, Neuromuscular Disorders.

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.

QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease

P. Bénit, J. Harper, J. Paulo, 2016, eLife.

Anti-HMGCR Autoantibodies in European Patients With Autoimmune Necrotizing Myopathies

L. Servais, B. Grosbois, N. Romero, 2014, Medicine.

Muscle magnetic resonance imaging and histopathology in ACTA1‐related congenital nemaline myopathy

E. Bertini, A. D’Amico, N. Romero, 2014, Muscle & nerve.

Nemaline myopathy caused by absence of α‐skeletal muscle actin

F. Muntoni, S. Clément, N. Romero, 2007 .

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.

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

N. Romero, E. Bertini, S. Sacconi, 2017, Clinical 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.

Phenotypic spectrum associated with mutations in the fukutin‐related protein gene

Susan C. Brown, E. Mercuri, F. Muntoni, 2003, Annals of neurology.

Can phrenic stimulation protect the diaphragm from mechanical ventilation-induced damage?

T. Similowski, N. Romero, A. Demoule, 2013, European Respiratory Journal.

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.

CAPN3 mutations in patients with idiopathic eosinophilic myositis

N. Romero, N. Lévy, F. Leturcq, 2006 .

118th ENMC International Workshop on Advances in Myotubular Myopathy. 26–28 September 2003, Naarden, The Netherlands. (5th Workshop of the International Consortium on Myotubular Myopathy)

A. Musarò, L. Pirola, N. Romero, 2004, Neuromuscular Disorders.

Different mechanisms inferred from sequences of human mitochondrial DNA deletions in ocular myopathies.

N. Romero, S. Amselem, G. Ponsot, 1991, Nucleic acids research.

Charcot–Marie–Tooth features and maculopathy in a patient with Danon disease

M. Komajda, N. Romero, V. Drouin‐Garraud, 2004, Neurology.

Main steps of skeletal muscle development in the human: morphological analysis and ultrastructural characteristics of developing human muscle.

N. Romero, A. Fidziańska, M. Mezmezian, 2013, Handbook of clinical neurology.

A new mutation in PRKAG2 gene causing hypertrophic cardiomyopathy with conduction system disease and muscular glycogenosis

N. Romero, J. Hogrel, P. Laforêt, 2006, Neuromuscular Disorders.

In vivo RyR1 reduction in muscle triggers a core-like myopathy

D. Metzger, N. Romero, J. Rendu, 2020, bioRxiv.

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.

Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype

N. Romero, R. Carlier, B. Estournet, 2009, Neuromuscular Disorders.

Recent advances in nemaline myopathy

S. Sandaradura, N. Romero, N. Clarke, 2013, Current opinion in neurology.

Late‐onset mitochondrial DNA depletion: DNA copy number, multiple deletions, and compensation

N. Romero, M. Fardeau, P. Frachon, 2001, Annals of neurology.

Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study

K. Claeys, N. Romero, G. Faulkner, 2009, Acta Neuropathologica.

A new titinopathy

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

1st ENMC European meeting: The EURO-NMD pathology working group Recommended Standards for Muscle Pathology Amsterdam, The Netherlands, 7 December 2018

H. Goebel, N. Romero, W. Stenzel, 2019, Neuromuscular Disorders.

A phase I trial of adeno-associated virus serotype 1-γ-sarcoglycan gene therapy for limb girdle muscular dystrophy type 2C.

N. Romero, D. Klatzmann, R. Mulligan, 2012, Brain : a journal of neurology.

Exon skipping as a therapeutic strategy applied to an RYR1 mutation with pseudo-exon inclusion causing a severe core myopathy.

N. Romero, B. Gilbert-Dussardier, L. García, 2013, Human gene therapy.

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

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

Severe progressive form of congenital muscular dystrophy with calf pseudohypertrophy, macroglossia and respiratory insufficiency

N. Romero, B. Estournet, A. Barois, 2002, Neuromuscular Disorders.

Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy

M. Koenig, N. Romero, M. Cossée, 2020, Journal of Medical Genetics.

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.

De novo LMNA mutations cause a new form of congenital muscular dystrophy

E. Bertini, F. Muntoni, L. de Meirleir, 2008, Annals of neurology.

Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy

K. Flanigan, J. Dowling, B. Ilkovski, 2010, Neuromuscular Disorders.

Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age

A. Toutain, N. Romero, L. Pasquier, 2013, European Journal of Human Genetics.

‘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.

Chronic intestinal pseudoobstruction with myopathy and ophthalmoplegia

P. Mezin, N. Romero, M. Fardeau, 1992, Digestive Diseases and Sciences.

Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age This article has been corrected since online publication and a corrigendum is also printed in this issue

A. Toutain, N. Romero, L. Pasquier, 2013 .

Pseudo-metabolic presentation in a Duchenne muscular dystrophy symptomatic carrier with ‘de novo’ duplication of dystrophin gene

A. Munnich, N. Romero, F. Leturcq, 2001, Neuromuscular Disorders.

Phenotypical variability and atypical presentations in a French cohort of Andersen–Tawil syndrome

N. Romero, S. Bendahhou, P. Laforêt, 2022, European journal of neurology.

Amphiphysin 2 modulation rescues myotubular myopathy and prevents focal adhesion defects in mice

Y. Hérault, N. Romero, N. Messaddeq, 2019, Science Translational Medicine.

Homoplasmic deleterious MT-ATP6/8 mutations in adult patients.

M. Amador, N. Romero, T. Maisonobe, 2020, Mitochondrion.

A New Glycogen Storage Disease Caused by a Dominant PYGM Mutation

N. Romero, C. Birck, A. Echaniz-Laguna, 2020, Annals of neurology.

A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine

D. Comas, N. Romero, N. Laing, 2018, Neurology.

Apoptosis in mitochondrial myopathies is linked to mitochondrial proliferation.

N. Romero, J. Leroy, E. Lacène, 2006, Brain : a journal of neurology.

Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization.

Beryl B. Cummings, D. MacArthur, M. Lek, 2016, American journal of human genetics.

Physiological impact and disease reversion for the severe form of centronuclear myopathy linked to dynamin

N. Romero, J. Laporte, C. Kretz, 2020, JCI insight.

Novel molecular diagnostic approaches for X-linked centronuclear (myotubular) myopathy reveal intronic mutations

C. Bönnemann, N. Romero, V. Biancalana, 2010, Neuromuscular Disorders.

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.

Mutations in dynamin 2 cause dominant centronuclear myopathy.

A. Beggs, N. Romero, Hanns Lochmüller, 2005, Nature genetics.

Clinical and molecular heterogeneity of cytochromec oxidase deficiency in the newborn

N. Romero, G. Touati, P. Frachon, 1996, Journal of Inherited Metabolic Disease.

Late-onset mitochondrial DNA depletion: DNA copy number, multiple deletions, and compensation.

N. Romero, M. Fardeau, P. Frachon, 2001 .

Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss.

F. Muntoni, C. Fauth, K. Rostásy, 2012, American journal of human genetics.

Multi‐minicore disease–searching for boundaries: Phenotype analysis of 38 cases

A. Toutain, N. Romero, B. Estournet, 2000, Annals of neurology.

Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues

A. Laquérriere, N. Romero, R. Carlier, 2017, Acta Neuropathologica.

Protein O-mannosyltransferase activities in lymphoblasts from patients with α-dystroglycanopathies

N. Romero, F. Leturcq, B. Estournet, 2008, Neuromuscular Disorders.

Reducing dynamin 2 expression rescues X-linked centronuclear myopathy.

N. Romero, A. Ferry, J. Laporte, 2014, The Journal of clinical investigation.

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

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

Dilated cardiomyopathy and limb-girdle muscular dystrophy-dystroglycanopathy due to novel pathogenic variants in the DPM3 gene

N. Romero, P. Laforêt, T. Stojkovic, 2019, Neuromuscular Disorders.

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

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

New POMT2 mutations causing congenital muscular dystrophy: identication of a founder mutation.

P. Bergh, N. Romero, L. Viollet, 2008 .

New POMT2 mutations causing congenital muscular dystrophy

N. Romero, F. Leturcq, L. Viollet, 2007, Neurology.

Myositis or dystrophy? Traps and pitfalls.

N. Romero, O. Benveniste, 2011, Presse medicale.

Immunohistochemical analysis of muscle cytochromec oxidase deficiency in children

N. Romero, M. Fardeau, A. Lombès, 2005, Histochemistry and Cell Biology.

Prenatal diagnosis in laminin α2 chain (merosin)-deficient congenital muscular dystrophy: A collective experience of five international centers

F. Muntoni, M. Zatz, N. Romero, 2005, Neuromuscular Disorders.

New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families

N. Romero, B. Estournet, S. Quijano-roy, 2004, Neurogenetics.

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.

Immunohistochemical demonstration of fibre type-specific isozymes of cytochrome c oxidase in human skeletal muscle

N. Romero, M. Fardeau, B. Kadenbach, 2006, Histochemistry.

Morphological studies of skeletal muscle in lactic acidosis

N. Romero, G. Touati, M. Fardeau, 1996, Journal of Inherited Metabolic Disease.

Histopathology of Skeletal Muscle Mitochondria

N. Romero, M. Coquet, H. Carrier, 1999 .

Infantile familial cardiomyopathy due to mitochondrial complex I and IV associated deficiency

N. Romero, M. Fardeau, C. Marsac, 1993, Neuromuscular Disorders.

Loss of podocyte dysferlin expression is associated with minimal change nephropathy.

N. Romero, B. Eymard, H. Izzedine, 2006, American journal of kidney diseases : the official journal of the National Kidney Foundation.

Clinical utility gene card for: Centronuclear and myotubular myopathies

A. Beggs, N. Romero, I. Nishino, 2012, European Journal of Human Genetics.

Centronuclear myopathies.

N. Romero, M. Bitoun, 2013, Seminars in pediatric neurology.

A NEW CENTRONUCLEAR MYOPATHY PHENOTYPE DUE TO A NOVEL DYNAMIN 2 MUTATION

N. Romero, B. Eymard, J. Bevilacqua, 2009, Neurology.

Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset

N. Romero, E. Uro-Coste, J. Bevilacqua, 2007, Annals of neurology.

Characterization of the muscle involvement in dynamin 2-related centronuclear myopathy.

N. Romero, J. Chiras, P. Laforêt, 2006, Brain : a journal of neurology.

S. Coppens, L. Servais, N. Romero, 2022, Acta neuropathologica communications.

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.

Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy.

F. Ledeist, P. Rustin, A. Rötig, 1990, The Journal of clinical investigation.

A Heterozygous Mutation in the Filamin C Gene Causes an Unusual Nemaline Myopathy With Ring Fibers.

N. Romero, G. Bassez, P. Carlier, 2020, Journal of neuropathology and experimental neurology.

Genetic Mutations and Demographic, Clinical, and Morphological Aspects of Myofibrillar Myopathy in a French Cohort.

N. Romero, P. Laforêt, B. Eymard, 2018, Genetic testing and molecular biomarkers.

Sporadic late-onset nemaline myopathy with MGUS

P. Bergh, N. Romero, B. V. van Engelen, 2014, Neurology.

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.

Congenital myopathies.

N. Romero, N. Clarke, 2013, Handbook of clinical neurology.

Nemaline myopathy caused by absence of alpha-skeletal muscle actin.

F. Muntoni, S. Clément, N. Romero, 2007, Annals of neurology.

Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1)

I. Nonaka, A. Beggs, N. Romero, 2003, 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.

Evidence of diaphragmatic dysfunction with severe alveolar hypoventilation syndrome in mitochondrial respiratory chain deficiency

A. Munnich, N. Boddaert, A. Rötig, 2020, Neuromuscular Disorders.

Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy

J. Beckmann, K. Campbell, N. Romero, 1994, Cell.

Primary adhalinopathy (alpha-sarcoglycanopathy): clinical, pathologic, and genetic correlation in 20 patients with autosomal recessive muscular dystrophy.

K. Campbell, N. Romero, F. Leturcq, 1997, Neurology.

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.

PHENOTYPE OF A PATIENT WITH RECESSIVE CENTRONUCLEAR MYOPATHY AND A NOVEL BIN1 MUTATION

K. Claeys, N. Romero, R. Carlier, 2010, Neurology.

Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies.

F. Muntoni, C. Bönnemann, N. Romero, 2002, American journal of human genetics.

Congenital Nemaline Myopathy with Dense Protein Masses.

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

CORE-ROD MYOPATHY CAUSED BY MUTATIONS IN THE NEBULIN GENE

K. Pelin, K. Claeys, V. Lehtokari, 2009, Neurology.

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

A. Laquérriere, N. Romero, B. Estournet, 2008, Human mutation.

An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor.

N. Romero, N. Monnier, J. Lunardi, 2000, Human molecular genetics.

Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy.

E. Bertini, F. Muntoni, R. Bryson-Richardson, 2013, American journal of human genetics.

Genotype–phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle α-actin

K. Pelin, F. Muntoni, H. Goebel, 2004, Neuromuscular Disorders.

Asymmetric muscle weakness due to ACTA1 mosaic mutations

N. Romero, R. Carlier, J. Deleuze, 2020, Neurology.

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

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

Mutation Update: The Spectra of Nebulin Variants and Associated Myopathies

Jocelyn Laporte, Carol J. Saunders, K. Pelin, 2014, Human mutation.

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.

The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis.

J. Melki, A. Mégarbané, P. Jouk, 2013, Human molecular genetics.

Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity

J. Beckmann, K. Campbell, N. Romero, 1995, Nature Genetics.

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

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

Peripheral nerve hyperexcitability with preterminal nerve and neuromuscular junction remodeling is a hallmark of Schwartz-Jampel syndrome

N. Romero, B. Eymard, B. Fontaine, 2013, Neuromuscular Disorders.

Muscular, Ocular and Brain Involvement Associated with a De Novo 11q13.2q14.1 Duplication: Contribution to the Differential Diagnosis of Muscle-Eye-Brain Congenital Muscular Dystrophy.

N. Romero, A. Barois, S. Quijano-roy, 2020 .

SLC25A32 Mutations and Riboflavin-Responsive Exercise Intolerance.

P. Rustin, N. Romero, Malgorzata Rak, 2016, The New England journal of medicine.

Laminin α2 Deficiency-Related Muscular Dystrophy Mimicking Emery-Dreifuss and Collagen VI related Diseases

C. Béroud, I. Nelson, A. Toutain, 2015, Journal of neuromuscular diseases.

N. Romero, K. Mamchaoui, G. Butler-Browne, 2020, bioRxiv.

Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy

N. Romero, P. Laforêt, B. Eymard, 2017, Journal of Neurology.

Hsp27‐2D‐gel electrophoresis is a diagnostic tool to differentiate primary desminopathies from myofibrillar myopathies

S. Simon, K. Zerres, N. Romero, 2005, FEBS letters.

Early onset collagen VI myopathies: Genetic and clinical correlations

F. Rivier, A. Toutain, B. Echenne, 2010, Annals of neurology.

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.

Muscle MRI as a Diagnostic Challenge in Emery-Dreifuss Muscular Dystrophy.

N. Romero, F. Leturcq, T. Stojkovic, 2022, Journal of neuromuscular diseases.

Pediatric laminopathies: Whole‐body magnetic resonance imaging fingerprint and comparison with Sepn1 myopathy

N. Romero, B. Estournet, S. Quijano-roy, 2015, Muscle & nerve.

Myopathy with hexagonally cross-linked crystalloid inclusions: Delineation of a clinico-pathological entity

K. Claeys, D. Figarella-Branger, H. Goebel, 2010, Neuromuscular Disorders.

Clinical and histologic findings in autosomal centronuclear myopathy

N. Romero, G. Bassez, P. Laforêt, 2004, Neurology.

Muscle imaging in dominant core myopathies linked or unlinked to the ryanodine receptor 1 gene

N. Romero, J. Chiras, L. Viollet, 2006, Neurology.

Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome

F. Muntoni, N. Petit, C. Jaillard, 2001, Nature Genetics.

Extensive morphological and immunohistochemical characterization in myotubular myopathy

N. Romero, J. Hogrel, V. Biancalana, 2013, Brain and behavior.

Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype

F. Baas, S. Gallati, N. Romero, 2003, Human Genetics.

Centronuclear myopathies: A widening concept

N. Romero, 2010, Neuromuscular Disorders.

Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility

J. Payen, P. Mezin, D. Figarella-Branger, 2005, Human mutation.

98th ENMC International Workshop on Congenital Muscular Dystrophy (CMD), 7th Workshop of the International Consortium on CMD, 2nd Workshop of the MYO CLUSTER project GENRE 26–28th October, 2001, Naarden, The Netherlands

E. Mercuri, K. Bushby, F. Muntoni, 2002, Neuromuscular Disorders.

STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility

F. Muntoni, L. Servais, Glyn Williams, 2018, Human mutation.

POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation.

N. Romero, N. Clarke, D. Rodriguez, 2009, European journal of medical genetics.

A Multisystem Mitochondrial Disorder in Infancy

A. Munnich, N. Romero, J. Saudubray, 1990 .

“Necklace” fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy

K. Claeys, N. Romero, P. Laforêt, 2009, Acta Neuropathologica.

Analysis of the tissue distribution and inheritance of heteroplasmic mitochondrial DNA point mutation by denaturing gradient gel electrophoresis in merrf syndrome

N. Romero, M. Fardeau, A. Lombès, 1992, Neuromuscular Disorders.

Mutations in FKBP 14 Cause a Variant of Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis , Myopathy , and Hearing Loss

F. Muntoni, C. Fauth, K. Rostásy, 2022 .

Core-rod myopathy due to a novel mutation in BTB/POZ domain of KBTBD13 manifesting as late onset LGMD

E. Bertini, N. Romero, C. Paradas, 2018, Acta Neuropathologica Communications.

Genetic biochemical and pathophysiological characterization of a familial mitochondrial encephalomyopathy (MERRF)

N. Romero, B. Eymard, P. Seibel, 1991, Journal of the Neurological Sciences.

114th ENMC International Workshop on Congenital Muscular Dystrophy (CMD) 17–19 January 2003, Naarden, The Netherlands: (8th Workshop of the International Consortium on CMD; 3rd Workshop of the MYO-CLUSTER project GENRE)

F. Muntoni, N. Romero, H. Bokhoven, 2003, Neuromuscular Disorders.

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.

EMG and nerve conduction studies in children with congenital muscular dystrophy

N. Romero, F. Renault, B. Estournet, 2004, Muscle & nerve.

Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan.

Susan C. Brown, C. Ponting, E. Mercuri, 2001, American journal of human genetics.

Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C.

Susan C. Brown, J. Burgunder, K. Bushby, 2001, Human molecular genetics.

Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy.

S. Heath, J. Jais, D. Zélénika, 2009, American journal of human genetics.

Whole-Body muscle MRI in a series of patients with congenital myopathy related to TPM2 gene mutations

E. Mercuri, N. Romero, R. Carlier, 2012, Neuromuscular Disorders.

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.

Phase I study of dystrophin plasmid-based gene therapy in Duchenne/Becker muscular dystrophy.

N. Romero, D. Klatzmann, J. Hogrel, 2004, Human gene therapy.

Identification of point mutations by mispairing PCR as exemplified in MERRF disease.

N. Romero, P. Seibel, B. Kadenbach, 1990, Biochemical and biophysical research communications.

Deletions of mitochondrial DNA in Kearns-Sayre syndrome and ocular myopathies: Genetic, biochemical and morphological studies

N. Romero, B. Eymard, G. Ponsot, 1991, Journal of the Neurological Sciences.

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.

Deficiency of dystrophin-associated proteins in Duchenne muscular dystrophy patients lacking COOH-terminal domains of dystrophin.

J. Ervasti, K. Campbell, N. Romero, 1993, The Journal of clinical investigation.

Sub-cellular localisation of fukutin related protein in different cell lines and in the muscle of patients with MDC1C and LGMD2I

Susan C. Brown, F. Muntoni, N. Romero, 2005, Neuromuscular Disorders.

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.

Respiratory chain deficiency presenting as recurrent myoglobinuria in childhood.

A. Munnich, P. Rustin, A. Rötig, 1999, Neuropediatrics.

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

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

Congenital myopathy-causing tropomyosin mutations induce thin filament dysfunction via distinct physiological mechanisms.

N. Romero, V. Fowler, S. Quijano-roy, 2012, Human molecular genetics.

De novo RYR1 heterozygous mutation (I4898T) causing lethal core-rod myopathy in twins.

K. Claeys, N. Romero, I. Husson, 2011, European journal of medical genetics.

Exercise tolerance and daily life in McArdle's disease

P. Portero, N. Romero, J. Hogrel, 2005, Muscle & nerve.

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.

Hyperckemia and myalgia are common presentations of anoctamin‐5‐related myopathy in French patients

N. Romero, R. Carlier, F. Leturcq, 2017, Muscle & nerve.

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

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

Myopathy with MTCYB mutation mimicking Multiple Acyl-CoA Dehydrogenase Deficiency.

N. Romero, P. Laforêt, A. Béhin, 2018, Revue neurologique.

Secondary metabolic defects in spinal muscular atrophy type II

N. Romero, J. Harpey, F. Renault, 1990, The Lancet.

Novel Phenotypes and Cardiac Involvement Associated With DNA2 Genetic Variants

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

Genetic heterogeneity of severe childhood autosomal recessive muscular dystrophy with adhalin (50 kDa dystrophin-associated glycoprotein) deficiency.

K. Campbell, N. Romero, F. Leturcq, 1994, Comptes rendus de l'Academie des sciences. Serie III, Sciences de la vie.

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

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

Immunocytological and histochemical correlation in Kearns-Sayre syndrome with mtDNA deletion and partial cytochrome c oxidase deficiency in skeletal muscle

I. Nelson, N. Romero, B. Eymard, 1989, Journal of the Neurological Sciences.

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.

A new case of SMA phenotype without epilepsy due to biallelic variants in ASAH1

I. Nelson, N. Romero, A. Boland, 2018, European Journal of Human Genetics.

Mutations in GFPT 1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregates myopathy with synaptopathy

Nathalie, N. Romero, P. Laforêt, 2017 .

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

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

I. Nelson, N. Romero, B. Eymard, 2022, Journal of neuromuscular diseases.

Malignant hyperthermia and central core disease: Analysis of two families with heterogeneous clinical expression

N. Romero, J. Lunardi, M. Fardeau, 1993, Neuromuscular Disorders.

Anti-HMGCR Antibody–Related Necrotizing Autoimmune Myopathy Mimicking Muscular Dystrophy

P. Vermersch, L. Vallée, I. Nelson, 2017, Neuropediatrics.

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

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

Novel autosomal dominant TPM3 mutation causes a combined congenital fibre type disproportion-cap disease histological pattern

N. Romero, J. Bevilacqua, G. Brochier, 2022, Neuromuscular Disorders.

Core-rod myopathy due to a novel mutation in BTB/POZ domain of KBTBD13 manifesting as late onset LGMD

E. Bertini, N. Romero, C. Paradas, 2018, Acta neuropathologica communications.

Progression despite replacement of a myopathic form of coenzyme Q10 defect

N. Romero, A. Lombès, J. Benoist, 2004, Neurology.

N. Romero, D. Mack, E. Zanoteli, 2020, Acta neuropathologica communications.

A novel PHKA1 mutation associating myopathy and cognitive impairment: Expanding the spectrum of phosphorylase kinase b (PhK) deficiency

N. Romero, J. Hogrel, T. Stojkovic, 2021, Journal of the Neurological Sciences.

Highly asymmetrical distribution of muscle wasting correlates to the heteroplasmy in a patient carrying a large-scale mitochondrial DNA deletion: a novel pathophysiological mechanism for explaining asymmetry in mitochondrial myopathies

N. Romero, C. Bris, V. Procaccio, 2022, Neuromuscular Disorders.

NI.O.24 Centronuclear myopathy-causing mutations in dynamin-2 impair actin-dependent trafficking in muscle cells

N. Romero, J. Bevilacqua, M. Bitoun, 2017, Neuromuscular Disorders.

P.479 Morphological spectrum of RYR1 recessive myopathies: Clinical and genetic correlation.

N. Romero, J. Rendu, J. Bevilacqua, 2017, Neuromuscular Disorders.

Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor.

N. Romero, P. Landrieu, N. Monnier, 2001, Human molecular genetics.

Abnormal Distribution of Calcium-Handling Proteins: A Novel Distinctive Marker in Core Myopathies

K. Parain, N. Romero, J. Leroy, 2007, Journal of neuropathology and experimental neurology.

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

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

C.P.4.11 Ragged red fibres finding in muscle biopsy of dynamin 2-related centronuclear myopathy

N. Romero, M. Bitoun, A. Taratuto, 2007, Neuromuscular Disorders.

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.

P2.18 A novel missense FLNC mutation causes arrhythmia and late onset myofibrillar myopathy with particular histopathology features

K. Claeys, N. Romero, B. Eymard, 2010, Neuromuscular Disorders.

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

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

Congenital muscular dystrophy phenotype with neuromuscular spindles excess in a 5-year-old girl caused by HRAS mutation

L. Servais, H. Cavé, N. Romero, 2014, Neuromuscular Disorders.

Novel Dominant Mutation in BIN1 Gene Causing Mild Centronuclear Myopathy Revealed by Myalgias and CK Elevation.

E. Bertini, N. Romero, J. Böhm, 2016, Journal of neuromuscular diseases.

Myofibrillar myopathies: State of the art, present and future challenges.

I. Nelson, D. Figarella-Branger, N. Romero, 2015, Revue neurologique (Paris).

Nemaline myopathy : current concepts

France, Australia, Finland., 2022 .

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.

P.251 Expression of the neuropathy-associated MTMR2 gene rescues MTM1-associated myopathy

N. Romero, B. Payrastre, P. Kessler, 2017, Neuromuscular Disorders.

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.

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.

A point mutation in the glycerol kinase gene associated with a deletion in the dystrophin gene in a familial X-linked muscular dystrophy: non-contiguous gene syndrome involving Becker muscular dystrophy and glycerol kinase loci

N. Romero, F. Leturcq, J. Kaplan, 1997, Neuromuscular Disorders.

Myofibrillar myopathies: State of the art, present and future challenges.

I. Nelson, D. Figarella-Branger, N. Romero, 2015, Revue neurologique.

Mitochondrial Myopathy in Non-Infected New-Born from HIV-1 Mothers treated with Antiretroviral DrugsMorphological study of skeletal muscle

N. Romero, J. Pellissier, C. Lacroix, 2002 .

Exon skipping as a therapeutic strategy applied to an RYR1 mutation with pseudo-exon inclusion causing a severe core myopathy.

N. Romero, B. Gilbert-Dussardier, L. García, 2013, Human gene therapy.

Clinical and histopathological aspects of central core disease associated and non-associated with RYR1 locus.

N. Romero, L. Viollet, P. Laforêt, 2005, Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology.

Myofibrillar myopathies: State of the art, present and future challenges.

I. Nelson, D. Figarella-Branger, N. Romero, 2015, Revue neurologique.

Diagnostic work-up and phenotypic characteristics of a family with variable severity of distal arthrogryposis type 2B (Sheldon-Hall syndrome) and TNNT3 pathogenic variant

N. Romero, S. Quijano-roy, I. Desguerre, 2023, Frontiers in Genetics.

P.14.4 Diagnostic role of quantitative NMR imaging exemplified by 3 cases of juvenile dermatomyositis

L. Servais, N. Romero, P. Carlier, 2013, Neuromuscular Disorders.

Two new cases of mitochondrial myopathy with exercise intolerance, hyperlactatemia and cardiomyopathy, caused by recessive SLC25A4 mutations.

N. Romero, J. Hogrel, P. Laforêt, 2017, Mitochondrion.

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.

POLG mutations associated with remitting/relapsing neurological events

F. Sedel, N. Romero, P. Laforêt, 2014, Journal of Clinical Neuroscience.