Cargando…

Novel approaches to diagnosis and management of hereditary transthyretin amyloidosis

Hereditary transthyretin amyloidosis (ATTRv) is a severe, adult-onset autosomal dominant inherited systemic disease predominantly affecting the peripheral and autonomic nervous system, heart, kidney and the eyes. ATTRv is caused by mutations of the transthyretin (TTR) gene, leading to extracellular...

Descripción completa

Detalles Bibliográficos
Autores principales:	Carroll, Antonia, Dyck, P James, de Carvalho, Mamede, Kennerson, Marina, Reilly, Mary M, Kiernan, Matthew C, Vucic, Steve
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BMJ Publishing Group 2022
Materias:	Neuromuscular
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9148983/ https://www.ncbi.nlm.nih.gov/pubmed/35256455 http://dx.doi.org/10.1136/jnnp-2021-327909

Ejemplares similares

Differentiating lower motor neuron syndromes
por: Garg, Nidhi, et al.
Publicado: (2017)

CSF sphingomyelin: a new biomarker of demyelination in the diagnosis and management of CIDP and GBS
por: Capodivento, Giovanna, et al.
Publicado: (2021)

Charcot-Marie-Tooth disease type 2CC due to NEFH variants causes a progressive, non-length-dependent, motor-predominant phenotype
por: Pipis, Menelaos, et al.
Publicado: (2022)

Hereditary Neuropathy with Liability to Pressure Palsies
por: Choi, Hyoung Won, et al.
Publicado: (2015)

Hereditary transthyretine amyloidosis in Slovenia
por: Zidar, Janez
Publicado: (2015)

Hereditary transthyretin amyloidosis overview
por: Manganelli, Fiore, et al.
Publicado: (2020)

Orthostatic hypotension in hereditary transthyretin amyloidosis: epidemiology, diagnosis and management
por: Palma, Jose-Alberto, et al.
Publicado: (2019)

Diagnosis and treatment of heart failure in hereditary transthyretin amyloidosis
por: Puig-Carrion, Gisela D., et al.
Publicado: (2019)

Frequency of hereditary transthyretin amyloidosis among elderly patients with transthyretin cardiomyopathy
por: Maestro‐Benedicto, Alba, et al.
Publicado: (2022)

Hereditary Transthyretin Amyloidosis with Polyneuropathy: Monitoring and Management
por: Vélez-Santamaría, Valentina, et al.
Publicado: (2022)

Health-related quality of life in hereditary transthyretin amyloidosis polyneuropathy: a prospective, observational study
por: Inês, Mónica, et al.
Publicado: (2020)

Neuropathy symptom and change: Inotersen treatment of hereditary transthyretin amyloidosis
por: Dyck, P. James B., et al.
Publicado: (2020)

Screening for hereditary transthyretin amyloidosis in Bulgaria
por: Nakov, Radislav, et al.
Publicado: (2021)

Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials
por: Diaz-Manera, Jordi, et al.
Publicado: (2018)

Clinical features and a mutation with late onset of limb girdle muscular dystrophy 2B
por: Takahashi, Toshiaki, et al.
Publicado: (2013)

Whole-genome sequencing and the clinician: a tale of two cities
por: Foley, A Reghan, et al.
Publicado: (2014)

Autosomal dominant eccentric core disease caused by a heterozygous mutation in the MYH7 gene
por: Romero, Norma B, et al.
Publicado: (2014)

The NorthStar Ambulatory Assessment in Duchenne muscular dystrophy: considerations for the design of clinical trials
por: Ricotti, Valeria, et al.
Publicado: (2016)

Erythropoietin in amyotrophic lateral sclerosis: a multicentre, randomised, double blind, placebo controlled, phase III study
por: Lauria, Giuseppe, et al.
Publicado: (2015)

Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants
por: van den Bergen, Janneke C, et al.
Publicado: (2015)

Non-neural phenotype of spinal and bulbar muscular atrophy: results from a large cohort of Italian patients
por: Querin, Giorgia, et al.
Publicado: (2016)

Assessment of pulmonary function in amyotrophic lateral sclerosis: when can polygraphy help evaluate the need for non-invasive ventilation?
por: Prell, Tino, et al.
Publicado: (2016)

Imaging muscle as a potential biomarker of denervation in motor neuron disease
por: Jenkins, Thomas M, et al.
Publicado: (2018)

Intravenous immunoglobulin for maintenance treatment of chronic inflammatory demyelinating polyneuropathy: a multicentre, open-label, 52-week phase III trial
por: Kuwabara, Satoshi, et al.
Publicado: (2017)

Monitoring disease progression with plasma creatinine in amyotrophic lateral sclerosis clinical trials
por: van Eijk, Ruben P A, et al.
Publicado: (2018)

Oral corticosteroid dosing regimen and long-term prognosis in generalised myasthenia gravis: a multicentre cross-sectional study in Japan
por: Imai, Tomihiro, et al.
Publicado: (2018)

Classifying Adverse Events Following Lower Limb Orthopaedic Surgery in Children With Cerebral Palsy: Reliability of the Modified Clavien-Dindo System
por: Zhou, Leena, et al.
Publicado: (2018)

Preliminary Safety and Tolerability of a Novel Subcutaneous Intrathecal Catheter System for Repeated Outpatient Dosing of Nusinersen to Children and Adults With Spinal Muscular Atrophy
por: Strauss, Kevin A., et al.
Publicado: (2018)

Ultra-high-dose methylcobalamin in amyotrophic lateral sclerosis: a long-term phase II/III randomised controlled study
por: Kaji, Ryuji, et al.
Publicado: (2019)

Untargeted metabolomics yields insight into ALS disease mechanisms
por: Goutman, Stephen A, et al.
Publicado: (2020)

Oral levosimendan in amyotrophic lateral sclerosis: a phase II multicentre, randomised, double-blind, placebo-controlled trial
por: Al-Chalabi, Ammar, et al.
Publicado: (2019)

Critical design considerations for time-to-event endpoints in amyotrophic lateral sclerosis clinical trials
por: van Eijk, Ruben P A, et al.
Publicado: (2019)

Myasthenia gravis AChR antibodies inhibit function of rapsyn-clustered AChRs
por: Cetin, Hakan, et al.
Publicado: (2020)

Intravenous immunoglobulin treatment for mild Guillain-Barré syndrome: an international observational study
por: Verboon, Christine, et al.
Publicado: (2021)

IgG(1) pan-neurofascin antibodies identify a severe yet treatable neuropathy with a high mortality
por: Fehmi, Janev, et al.
Publicado: (2021)

Composite endpoint for ALS clinical trials based on patient preference: Patient-Ranked Order of Function (PROOF)
por: van Eijk, Ruben P A, et al.
Publicado: (2022)

Eculizumab versus rituximab in generalised myasthenia gravis
por: Nelke, Christopher, et al.
Publicado: (2022)

Clinical staging in amyotrophic lateral sclerosis: analysis of Edaravone Study 19
por: Al-Chalabi, Ammar, et al.
Publicado: (2021)

Variability in Postoperative Immobilization and Rehabilitation Following Reconstructive Hip Surgery in Nonambulatory Children With Cerebral Palsy
por: Miller, Stacey D., et al.
Publicado: (2021)

Motor unit changes in children with symptomatic spinal muscular atrophy treated with nusinersen
por: Kariyawasam, Didu, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_ljccacesgfgesnm9ofn3h4a2gl