A. Nascimento

发表

Copper Toxicity Associated With an ATP7A-Related Complex Phenotype.

J. Hoenicka, J. Armstrong, C. Ortez, 2021, Pediatric neurology.

Association of Initial Maximal Motor Ability With Long-term Functional Outcome in Patients With COL6-Related Dystrophies

C. Bönnemann, D. Cuadras, C. Ortez, 2021, Neurology.

Mitochondrial DNA depletion syndrome: new descriptions and the use of citrate synthase as a helpful tool to better characterise the patients.

F. Tort, A. Ribes, J. Montoya, 2012, Molecular genetics and metabolism.

Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome

Eric N. Anderson, Michael T. Zimmermann, Nikita R. Dsouza, 2020, Acta Neuropathologica.

Four sisters compound heterozygotes for the pre- and full mutation in fragile X syndrome and a complete inactivation of X-functional chromosome: implications for genetic counseling

L. Martorell, A. Nascimento, J. Genovés, 2011, Journal of Human Genetics.

Homozygous truncating mutation in prenatally expressed skeletal isoform of TTN gene results in arthrogryposis multiplex congenita and myopathy without cardiac involvement

M. Couce, L. Palacios, C. Jiménez-Mallebrera, 2017, Neuromuscular Disorders.

Personalized in vitro Extracellular Matrix Models of Collagen VI-Related Muscular Dystrophies

J. Samitier, J. Montero, A. Lagunas, 2022, Frontiers in Bioengineering and Biotechnology.

Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases.

J. González, G. Parra, M. Gut, 2022, The Journal of molecular diagnostics : JMD.

Translational Diagnostics: An In-House Pipeline to Validate Genetic Variants in Children with Undiagnosed and Rare Diseases.

J. Hoenicka, C. Ortez, C. Fons, 2020, The Journal of molecular diagnostics : JMD.

Moyamoya syndrome associated with Down syndrome: Clinical and radiological features

J. Colomer, A. Nascimento, R. Navarro, 2006 .

An Integrative Analysis of DNA Methylation Pattern in Myotonic Dystrophy Type 1 Samples Reveals a Distinct DNA Methylation Profile between Tissues and a Novel Muscle-Associated Epigenetic Dysregulation

C. Ortez, G. Nogales-Gadea, M. Rubio, 2022, Biomedicines.

Comparative gene expression profiling between human cultured myotubes and skeletal muscle tissue

M. Kussmann, F. Raymond, S. Métairon, 2010, BMC Genomics.

KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors

Hanns Lochmüller, H. Lochmüller, C. Ortez, 2016, Journal of Neurology.

Gene Expression Profiling Identifies Molecular Pathways Associated with Collagen VI Deficiency and Provides Novel Therapeutic Targets

F. Muntoni, S. Kalko, C. Ortez, 2013, PloS one.

A capillary electrophoresis procedure for the screening of oligosaccharidoses and related diseases

A. Ormazabal, R. Artuch, B. Pérez-Dueñas, 2014, Analytical and Bioanalytical Chemistry.

CACNA1A Mutations Causing Early Onset Ataxia: Profiling Clinical, Dysmorphic and Structural-Functional Findings

B. Oliva, C. Ortez, A. Martínez-Monseny, 2021, International journal of molecular sciences.

CHRNG‐related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings

J. Hoenicka, R. Carlier, H. Lochmüller, 2019, American journal of medical genetics. Part A.

PDGF-BB serum levels are decreased in adult onset Pompe patients

Josep Maria Salanova Grau, I. Rojas-Marcos, M. Mayos, 2019, Scientific Reports.

Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain

A. L. de Munain, R. Rojas-García, R. Sivera, 2017, Scientific Reports.

EXTRACEPHALIC CLUSTER (CLUSTER SINE HEADACHE)

N. Blau, V. Ramaekers, D. Dodick, 2008, Neurology.

Differences in Adipose Tissue and Lean Mass Distribution in Patients with Collagen VI Related Myopathies Are Associated with Disease Severity and Physical Ability

L. M. Del Río Barquero, C. Ortez, M. Ramón-Krauel, 2017, Front. Aging Neurosci..

Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy

F. Villarroya, S. Kalko, E. Ruiz-Pesini, 2020, Scientific Reports.

Muscle Fiber Atrophy and Regeneration Coexist in Collagen VI–Deficient Human Muscle: Role of Calpain-3 and Nuclear Factor-&kgr;B Signaling

I. Ferrer, A. Gómez-Foix, J. Colomer, 2012, Journal of neuropathology and experimental neurology.

Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations

H. Lochmüller, T. Evangelista, J. Colomer, 2016, Neuromuscular Disorders.

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

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

Genes for hereditary sensory and autonomic neuropathies: a genotype–phenotype correlation

N. Lévy, V. Timmerman, J. Weis, 2009, Brain : a journal of neurology.

Genetic approaches and pathogenic pathways in the clinical management of Charcot-Marie-Tooth disease

J. Hoenicka, F. Palau, L. Carrera-García, 2022, Journal of Translational Genetics and Genomics.

Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations

Jacqueline Palace, K. Bushby, F. Muntoni, 2012, Journal of Neurology.

Neuromuscular Manifestations in Mitochondrial Diseases in Children.

C. Ortez, M. O'Callaghan, À. García‐Cazorla, 2016, Seminars in pediatric neurology.

GDF-15 Is Elevated in Children with Mitochondrial Diseases and Is Induced by Mitochondrial Dysfunction

F. Villarroya, S. Kalko, E. Ruiz-Pesini, 2016, PloS one.

Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency

Miguel Ángel Martín, C. Paradas, M. Madruga-Garrido, 2021, Orphanet Journal of Rare Diseases.

Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy

M. Baiget, E. Rivas, C. Paradas, 2012, Orphanet Journal of Rare Diseases.

International retrospective natural history study of LMNA-related congenital muscular dystrophy

E. Mercuri, F. Muntoni, T. Pierson, 2021, Brain communications.

G.P.4.04 Lamin A/C gene mutation as a cause of dropped head syndrome. Extending the striated muscle laminopathies

P. Richard, J. Colomer, G. Bonne, 2006, Neuromuscular Disorders.

Síndrome de Down y encefalitis de Hashimoto

C. Ortez, P. Póo, A. Nascimento, 2010 .

Down syndrome and Hashimoto's encephalitis

C. Ortez, P. Póo, A. Nascimento, 2010 .

PLA2G6-associated neurodegeneration: New insights into brain abnormalities and disease progression.

T. Huisman, A. Poretti, C. Ortez, 2019, Parkinsonism & related disorders.

Salbutamol tolerability and efficacy in patients with spinal muscular atrophy type II

D. Cuadras, J. Colomer, L. Martorell, 2019, Neuromuscular Disorders.

Study of the effect of anti-rhGAA antibodies at low and intermediate titers in late onset Pompe patients treated with ERT.

I. Rojas-Marcos, M. Mayos, A. López de Munain, 2019, Molecular genetics and metabolism.

Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein

C. Ortez, Miroslav P. Milev, M. Sacher, 2019, Scientific Reports.

Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial

G. Comi, S. Corti, E. Mazzone, 2022, The Lancet Neurology.

Platelet Derived Growth Factor-AA Correlates With Muscle Function Tests and Quantitative Muscle Magnetic Resonance in Dystrophinopathies

C. Ortez, I. Illa, E. Gallardo, 2021, Frontiers in Neurology.

Hearing Loss in a Patient With the Myopathic Form of Mitochondrial DNA Depletion Syndrome and a Novel Mutation in the TK2 Gene

E. Ruiz-Pesini, M. Pineda, J. Montoya, 2010, Pediatric Research.

Cerebral folate deficiency and leukoencephalopathy caused by a mitochondrial DNA deletion

A. Ormazabal, R. Artuch, M. Pineda, 2006, Annals of neurology.

Muscle coenzyme Q10 concentrations in patients with probable and definite diagnosis of respiratory chain disorders

P. Navas, R. Artuch, M. Pineda, 2005, BioFactors.

The Increasing Impact of Translational Research in the Molecular Diagnostics of Neuromuscular Diseases

J. Hoenicka, J. Armstrong, C. Ortez, 2021, International journal of molecular sciences.

Hypotonic male infant and MCT8 deficiency - a diagnosis to think about

J. Armstrong, C. Ortez, J. Colomer, 2014, BMC Pediatrics.

Title : Hypotonic male infant and MCT 8 deficiency-a diagnosis to think about 1 2

J. Armstrong, C. Ortez, J. Colomer, 2014 .

Intrahepatic Cholestasis Is a Clinically Significant Feature Associated with Natural History of X-Linked Myotubular Myopathy (XLMTM): A Case Series and Biopsy Report

B. Kamath, M. Lawlor, R. Graham, 2021, Journal of neuromuscular diseases.

Acute Flaccid Myelitis With Early, Severe Compound Muscle Action Potential Amplitude Reduction: A 3-Year Follow-up of a Child Patient.

C. Ortez, J. Berciano, Antonio G. García, 2018, Journal of clinical neuromuscular disease.

Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain

C. Ortez, M. Madruga-Garrido, I. Jericó, 2020, Genes.

Pathological Features in Paediatric Patients with TK2 Deficiency

E. Ruiz-Pesini, C. Ortez, R. Artuch, 2022, International journal of molecular sciences.

Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders.

P. Navas, E. Ruiz-Pesini, E. Trevisson, 2016, Mitochondrion.

Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experience

E. Ruiz-Pesini, A. Ribes, J. Armstrong, 2018, Journal of Inherited Metabolic Disease.

Glycogen branching enzyme deficiency in an infant with severe congenital hypotonia: an emerging diagnosis of muscle weakness in the perinatal period

I. Ferrer, M. Rolland, J. Colomer, 2009, Histopathology.

Retrospective natural history of thymidine kinase 2 deficiency

Robert W. Taylor, S. Dimauro, P. Chinnery, 2018, Journal of Medical Genetics.

Deoxynucleoside Therapy for Thymidine Kinase 2–Deficient Myopathy

S. Kalko, K. Engelstad, C. Paradas, 2019, Annals of neurology.

Digital PCR quantification of miR-30c and miR-181a as serum biomarkers for Duchenne muscular dystrophy

C. Ortez, C. Jiménez-Mallebrera, C. Jou, 2016, Neuromuscular Disorders.

Transcriptome Analysis of Ullrich Congenital Muscular Dystrophy Fibroblasts Reveals a Disease Extracellular Matrix Signature and Key Molecular Regulators

S. Kalko, C. Ortez, E. Gallardo, 2015, PloS one.

Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy

F. Villarroya, S. Kalko, E. Ruiz-Pesini, 2020, Scientific Reports.

Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential novel biomarker for mitochondrial myopathies

L. de Meirleir, S. Kalko, E. Ruiz-Pesini, 2014, BMC Genomics.

The Phenotype and Genotype of Congenital Myopathies Based on a Large Pediatric Cohort.

D. Cuadras, C. Ortez, S. César, 2020, Pediatric neurology.

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

Kristen M. Laricchia, D. MacArthur, M. Lek, 2020, Genetics in Medicine.

CRISPR/Cas9-Mediated Allele-Specific Disruption of a Dominant COL6A1 Pathogenic Variant Improves Collagen VI Network in Patient Fibroblasts

C. Ortez, Susanna Balcells, D. Grinberg, 2022, International journal of molecular sciences.

Longitudinal Study of Three microRNAs in Duchenne Muscular Dystrophy and Becker Muscular Dystrophy

Cecilia Jimenez-Mallebrera, Carmen Badosa, D. Cuadras, 2020, Frontiers in Neurology.

A novel phenotype of AChR-deficiency syndrome with predominant facial and distal weakness resulting from the inclusion of an evolutionary alternatively-spliced exon in CHRNA1

F. Muntoni, G. Ravenscroft, N. Laing, 2022, Neuromuscular Disorders.

OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect

Robert W. Taylor, N. Lax, P. Bonnen, 2018, EMBO molecular medicine.

DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations

M. Baiget, C. Ortez, J. Juan-Mateu, 2015, PloS one.

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.

Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect.

T. Strom, K. Bushby, Jacqueline A Palace, 2011, American journal of human genetics.

Infantile Spasms and Down Syndrome

C. Ortez, A. Nascimento, 2009 .

5-Oxoprolinuria in Heterozygous Patients for 5-Oxoprolinase (OPLAH) Missense Changes.

R. Artuch, J. Colomer, C. Espinós, 2012, JIMD Reports.

Interplay between DMD Point Mutations and Splicing Signals in Dystrophinopathy Phenotypes

M. Baiget, S. Pascual-Pascual, J. Juan-Mateu, 2013, PloS one.

Two-year efficacy and safety of risdiplam in patients with type 2 or non-ambulant type 3 spinal muscular atrophy (SMA)

E. Mazzone, P. Fontoura, L. Servais, 2023, Journal of Neurology.

Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain

A. L. de Munain, R. Rojas-García, R. Sivera, 2017, Scientific Reports.

Clinical presentation and proteomic signature of patients with TANGO2 mutations

Robert W. Taylor, F. Tort, L. Waddell, 2019, Journal of inherited metabolic disease.

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.

Early and long-term effect of the treatment with pyridostigmine in patients with GMPPB-related congenital myasthenic syndrome

D. Cuadras, C. Ortez, J. Colomer, 2020, Neuromuscular Disorders.

Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events

C. Ortez, E. Rivas, A. Hernández-Laín, 2022, Journal of Medical Genetics.

P.341 Collagen VI and endotrophin regulate glucose homeostasis in skeletal muscle

S. Kalko, J. Colomer, C. Jiménez-Mallebrera, 2016, Neuromuscular Disorders.

Characterization of cardiac involvement in children with LMNA-related muscular dystrophy

J. Brugada, C. Ortez, S. Quijano-roy, 2023, Frontiers in Cell and Developmental Biology.

Mutation loads in different tissues from six pathogenic mtDNA point mutations.

E. Ruiz-Pesini, R. Artuch, M. Pineda, 2015, Mitochondrion.

Variants in DTNA cause a mild, dominantly inherited muscular dystrophy

J. Hoenicka, A. Mammen, Vijay Ganesh, 2022, Neuromuscular Disorders.

PGC-1α Induces Mitochondrial and Myokine Transcriptional Programs and Lipid Droplet and Glycogen Accumulation in Cultured Human Skeletal Muscle Cells

C. Lerin, A. Gómez-Foix, X. Palomer, 2012, PloS one.

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.

Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe

Thomas Sejersen, Rachel Thompson, Clemens Bloetzer, 2013, Journal of Neurology.

X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients

N. Baena, G. Antiñolo, S. Gökben, 2019, Scientific Reports.

[Advances in the treatment of Duchenne muscular dystrophy].

C. Ortez, A. Nascimento, J. Exposito, 2019, Medicina.

A statistical algorithm showing coenzyme Q10 and citrate synthase as biomarkers for mitochondrial respiratory chain enzyme activities

M D Ugarte, A Adin, P. Navas, 2016, Scientific Reports.

Chronic inflammatory demyelinating polyneuropathy associated with contactin-1 antibodies in a child

J. Dalmau, C. Ortez, A. Saiz, 2019, Neurology: Neuroimmunology & Neuroinflammation.

Author Correction: The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome

N. Baena, G. Antiñolo, Gábor Csányi, 2017, Scientific Reports.

The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome

N. Baena, G. Antiñolo, S. Gökben, 2017, Scientific Reports.

Mitochondrial diseases mimicking neurotransmitter defects.

S. Duarte, A. Ormazabal, R. Artuch, 2008, Mitochondrion.

Mitochondrial Dynamics and Mitochondria-Lysosome Contacts in Neurogenetic Diseases

J. Hoenicka, C. Ortez, F. Palau, 2022, Frontiers in Neuroscience.

Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant

C. Ortez, A. López de Munain, S. Pascual-Pascual, 2023, Journal of Medical Genetics.

A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndrome

H. Lochmüller, V. Rakocevic-Stojanovic, J. Colomer, 2012, Journal of Neurology.

Epilepsy in LAMA2‐related muscular dystrophy: An electro‐clinico‐radiological characterization

D. Cuadras, C. Ortez, A. Arzimanoglou, 2020, Epilepsia.

Phenotypic heterogeneity in two large Roma families with a congenital myasthenic syndrome due to CHRNE 1267delG mutation. A long-term follow-up

T. Jaijo, R. Arteaga, J. Colomer, 2016, Neuromuscular Disorders.

Molecular characterization of congenital myasthenic syndromes in Spain

J. Senderek, D. Beeson, T. Evangelista, 2017, Neuromuscular Disorders.

Circulating Cell-Free Mitochondrial DNA in Cerebrospinal Fluid as a Biomarker for Mitochondrial Diseases.

E. Ruiz-Pesini, R. Artuch, J. Montoya, 2021, Clinical chemistry.

Common pathophysiology for ANXA11 disorders caused by aspartate 40 variants

J. Hoenicka, X. Salvatella, C. Ortez, 2023, Annals of clinical and translational neurology.

Long-term improvement of slow-channel congenital myasthenic syndrome with fluoxetine

Hanns Lochmüller, J. Colomer, A. Nascimento, 2006, Neuromuscular Disorders.

Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease

F. Tort, P. Navas, E. Ruiz-Pesini, 2019, Journal of clinical medicine.

P.2.14 Isolated cognitive abnormalities associated to DMD mutations

M. Baiget, J. Juan-Mateu, J. Colomer, 2013, Neuromuscular Disorders.

Isolated cognitive abnormalities associated to DMD mutations

A. Cnaan, M. Baiget, C. Spurney, 2013 .

COVID-19 in children with neuromuscular disorders

C. Ortez, D. Gómez-Andrés, S. Pascual-Pascual, 2021, Journal of Neurology.

Full-Length SMN Transcript in Extracellular Vesicles as Biomarker in Individuals with Spinal Muscular Atrophy Type 2 Treated with Nusinersen

C. Ortez, D. Alcolea, C. Jiménez-Mallebrera, 2023, Journal of neuromuscular diseases.

PDGF-BB serum levels are decreased in adult onset Pompe patients

Josep Maria Salanova Grau, I. Rojas-Marcos, M. Mayos, 2019, Scientific Reports.

Clinical spectrum of CMT4C disease in patients homozygous for the p.Arg1109X mutation in SH3TC2

Y. Parman, L. Kalaydjieva, R. King, 2006, Neuromuscular Disorders.

LMNA-related muscular dystrophy: Identification of variants in alternative genes and personalized clinical translation

J. Brugada, R. Brugada, C. Ortez, 2023, Frontiers in Genetics.

Innovative Computerized Dystrophin Quantification Method Based on Spectral Confocal Microscopy

D. Cuadras, C. Ortez, L. Matalonga, 2023, International journal of molecular sciences.

[Hypotonia in the neonatal period: 12 years' experience].

J. Campistol, J. Colomer, M. Iriondo, 2013, Revista de neurologia.

The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome

N. Baena, G. Antiñolo, S. Gökben, 2017, Scientific Reports.

Treatment of spinal muscular atrophy in European countries: A call to action

F. Munell, J. Vázquez-Costa, M. Povedano, 2022, European journal of neurology.

Variants in DTNA cause a mild, dominantly inherited muscular dystrophy

J. Hoenicka, A. Mammen, Vijay Ganesh, 2023, Acta Neuropathologica.

The Phenotype and Genotype of Congenital Myopathies Based on a Large Pediatric Cohort.

D. Cuadras, C. Ortez, J. Colomer, 2020, Pediatric neurology.

Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations

Jacqueline Palace, K. Bushby, F. Muntoni, 2012, Journal of Neurology.

Pediatric SMA patients with complex spinal anatomy: Implementation and evaluation of a decision-tree algorithm for administration of nusinersen.

M. Bosch de Basea, D. Cuadras, C. Ortez, 2021, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.