Cargando…

Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies

Neuromuscular diseases are genetically highly heterogeneous, and differential diagnosis can be challenging. Over a 3-year period, we prospectively analyzed 268 pediatric and adult patients with a suspected diagnosis of inherited neuromuscular disorder (INMD) using comprehensive gene-panel analysis a...

Descripción completa

Detalles Bibliográficos
Autores principales:	Barbosa-Gouveia, Sofia, Vázquez-Mosquera, Maria Eugenia, González-Vioque, Emiliano, Hermida-Ameijeiras, Álvaro, Sánchez-Pintos, Paula, de Castro, Maria José, León, Soraya Ramiro, Gil-Fournier, Belén, Domínguez-González, Cristina, Camacho Salas, Ana, Negrão, Luis, Fineza, Isabel, Laranjeira, Francisco, Couce, Maria Luz
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9143479/ https://www.ncbi.nlm.nih.gov/pubmed/35628876 http://dx.doi.org/10.3390/jcm11102750

Ejemplares similares

Clinical Utility of LCT Genotyping in Children with Suspected Functional Gastrointestinal Disorder
por: Couce, María L., et al.
Publicado: (2020)

Characterization of a Novel Splicing Variant in Acylglycerol Kinase (AGK) Associated with Fatal Sengers Syndrome
por: Barbosa-Gouveia, Sofia, et al.
Publicado: (2021)

Identification of a Novel Variant in EARS2 Associated with a Severe Clinical Phenotype Expands the Clinical Spectrum of LTBL
por: Barbosa-Gouveia, Sofia, et al.
Publicado: (2020)

Utility of Gene Panels for the Diagnosis of Inborn Errors of Metabolism in a Metabolic Reference Center
por: Barbosa-Gouveia, Sofia, et al.
Publicado: (2021)

Editorial: NGS technologies of rare diseases diagnosis
por: Couce, María L., et al.
Publicado: (2022)

Arterial stiffness assessment in patients with phenylketonuria
por: Hermida-Ameijeiras, Alvaro, et al.
Publicado: (2017)

Rapid Phenotype-Driven Gene Sequencing with the NeoSeq Panel: A Diagnostic Tool for Critically Ill Newborns with Suspected Genetic Disease
por: de Castro, María José, et al.
Publicado: (2020)

Proteomics in Inherited Metabolic Disorders
por: Chantada-Vázquez, Maria del Pilar, et al.
Publicado: (2022)

Transcriptomic analysis of patients with clinical suspicion of maturity-onset diabetes of the young (MODY) with a negative genetic diagnosis
por: Vázquez-Mosquera, María E., et al.
Publicado: (2022)

Identification and Characterization of New Variants in FOXRED1 Gene Expands the Clinical Spectrum Associated with Mitochondrial Complex I Deficiency
por: Barbosa-Gouveia, Sofia, et al.
Publicado: (2019)

Case Report: Diffuse Polymicrogyria Associated With a Novel ADGRG1 Variant
por: Carneiro, Fábio, et al.
Publicado: (2021)

Bone Status in Patients with Phenylketonuria: A Systematic Review
por: de Castro, María José, et al.
Publicado: (2020)

Neuromuscular imaging in inherited muscle diseases
por: Wattjes, Mike P., et al.
Publicado: (2010)

Association of a Novel Homozygous Variant in ABCA1 Gene with Tangier Disease
por: Barbosa-Gouveia, Sofía, et al.
Publicado: (2023)

The pathogenicity scoring system for mitochondrial tRNA mutations revisited
por: González-Vioque, Emiliano, et al.
Publicado: (2014)

Treatment adherence in tyrosinemia type 1 patients
por: González-Lamuño, Domingo, et al.
Publicado: (2021)

Similarities between acylcarnitine profiles in large for gestational age newborns and obesity
por: Sánchez-Pintos, Paula, et al.
Publicado: (2017)

Screen Time and Bone Status in Children and Adolescents: A Systematic Review
por: de Lamas, Carmela, et al.
Publicado: (2021)

RNA Targeting in Inherited Neuromuscular Disorders: Novel Therapeutic Strategies to Counteract Mis-Splicing
por: Verdile, Veronica, et al.
Publicado: (2021)

Inherited Neuromuscular Disorders: Which Role for Serum Biomarkers?
por: Lupica, Antonino, et al.
Publicado: (2021)

Lipid profile status and other related factors in patients with Hyperphenylalaninaemia
por: Couce, María L., et al.
Publicado: (2016)

Inherited Defects of the ASC-1 Complex in Congenital Neuromuscular Diseases
por: Meunier, Justine, et al.
Publicado: (2021)

Effect of the COVID-19 pandemic on patients with inherited neuromuscular disorders
por: Moreno, Cristiane Araujo Martins, et al.
Publicado: (2022)

Incidence and features of thrombosis in children with inherited antithrombin deficiency
por: de la Morena-Barrio, Belén, et al.
Publicado: (2019)

Evaluation of Body Composition, Physical Activity, and Food Intake in Patients with Inborn Errors of Intermediary Metabolism
por: de Castro, María-José, et al.
Publicado: (2021)

Intravenous branched-chain amino-acid-free solution for the treatment of metabolic decompensation episodes in Spanish pediatric patients with maple syrup urine disease
por: Sánchez-Pintos, Paula, et al.
Publicado: (2022)

Impact of Tele-Neuromuscular Clinic on the Accessibility of Care for Patients with Inherited Neuromuscular Disorders during COVID-19 Pandemic in India
por: Reyaz, Alisha, et al.
Publicado: (2022)

Carbohydrate status in patients with phenylketonuria
por: Couce, María L., et al.
Publicado: (2018)

NGS Technologies as a Turning Point in Rare Disease Research, Diagnosis and Treatment
por: Fernández-Marmiesse, Ana, et al.
Publicado: (2018)

Role of Thrombopoietin Receptor Agonists in Inherited Thrombocytopenia
por: Bastida, José María, et al.
Publicado: (2021)

Congenital Myasthenic Syndromes or Inherited Disorders of Neuromuscular Transmission: Recent Discoveries and Open Questions
por: Nicole, Sophie, et al.
Publicado: (2017)

Survey on patients’ organisations’ knowledge and position paper on screening for inherited neuromuscular diseases in Europe
por: Lamy, F., et al.
Publicado: (2021)

Editorial: Integrating multi-scale approaches for predicting microbiome ecology and evolution
por: Quagliariello, Andrea, et al.
Publicado: (2022)

Bone Mineralization and Calcium Phosphorus Metabolism
por: Couce, María Luz, et al.
Publicado: (2021)

Breastfeeding and Inborn Errors of Amino Acid and Protein Metabolism: A Spreadsheet to Calculate Optimal Intake of Human Milk and Disease-Specific Formulas
por: Vitoria-Miñana, Isidro, et al.
Publicado: (2023)

Neuromuscular junction involvement in inherited motor neuropathies: genetic heterogeneity and effect of oral salbutamol treatment
por: McMacken, Grace, et al.
Publicado: (2023)

Variable Expressivity and Allelic Heterogeneity in Type 2 Familial Partial Lipodystrophy: The p.(Thr528Met) LMNA Variant
por: Araújo-Vilar, David, et al.
Publicado: (2021)

Limited dCTP Availability Accounts for Mitochondrial DNA Depletion in Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE)
por: González-Vioque, Emiliano, et al.
Publicado: (2011)

Evolution of tyrosinemia type 1 disease in patients treated with nitisinone in Spain
por: Couce, María Luz, et al.
Publicado: (2019)

Inherited Platelet Disorders: An Updated Overview
por: Palma-Barqueros, Verónica, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_qf3ff2qaba0m39ffpesvjscci8