Cargando…

Spinal Muscular Atrophy Diagnosed by Newborn Screening

A panel of experts representing academic centers, family foundations and pharmaceutical industry came together to formulate a treatment algorithm for infants diagnosed via newborn screening (NBS) with Spinal muscular atrophy (SMA).

Detalles Bibliográficos
Autores principales:	Lopez-Chacon, Matias, Buehner, Amber N., Rao, Vamshi K.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Pediatric Neurology Briefs Publishers 2019
Materias:	Muscle Disorders
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6942550/ https://www.ncbi.nlm.nih.gov/pubmed/31929716 http://dx.doi.org/10.15844/pedneurbriefs-33-5

Ejemplares similares

Delay in Diagnosis of Duchenne Muscular Dystrophy
por: Rao, Vamshi K., et al.
Publicado: (2015)

Utility of Repetitive Nerve Stimulation in Myopathies
por: Schwaede, Abigail, et al.
Publicado: (2020)

Clinico‐genetic spectrum of limb‐girdle muscular weakness in Austria: A multicentre cohort study
por: Krenn, Martin, et al.
Publicado: (2022)

Shedding light on motor premanifest myotonic dystrophy type 1: A molecular, muscular and central nervous system follow‐up study
por: Garmendia, Joana, et al.
Publicado: (2022)

The facioscapulohumeral muscular dystrophy Rasch‐built overall disability scale (FSHD‐RODS)
por: Mul, Karlien, et al.
Publicado: (2021)

The mechanisms of skeletal muscle atrophy in response to transient knockdown of the vitamin D receptor in vivo
por: Bass, Joseph J., et al.
Publicado: (2020)

Oxygen transport kinetics underpin rapid and robust diaphragm recovery following chronic spinal cord injury
por: Warren, Philippa M., et al.
Publicado: (2020)

Treatment Algorithm for Infants Diagnosed with Spinal Muscular Atrophy through Newborn Screening
por: Glascock, Jacqueline, et al.
Publicado: (2018)

The etiology of rhabdomyolysis: an interaction between genetic susceptibility and external triggers
por: Kruijt, N., et al.
Publicado: (2020)

Interventions for spinal muscular atrophy: an impetus for newborn screening
Publicado: (2021)

Muscle involvement in SARS‐CoV‐2 infection
por: Pitscheider, Lea, et al.
Publicado: (2020)

The body region specificity in murine models of muscle regeneration and atrophy
por: Yoshioka, Kiyoshi, et al.
Publicado: (2020)

Synchronous deficits in cumulative muscle protein synthesis and ribosomal biogenesis underlie age‐related anabolic resistance to exercise in humans
por: Brook, Matthew S., et al.
Publicado: (2016)

Safety and tolerability of SARS‐Cov‐2 vaccination in patients with myasthenia gravis: A multicenter experience
por: Farina, Antonio, et al.
Publicado: (2022)

Thymectomy in myasthenia gravis: “The real world” experience beyond studies
por: Waheed, Waqar, et al.
Publicado: (2022)

Short‐term and sustained clinical response following thymectomy in patients with myasthenia gravis
por: Rath, Jakob, et al.
Publicado: (2022)

Muscle magnetic resonance imaging in myotonic dystrophy type 1 (DM1): Refining muscle involvement and implications for clinical trials
por: Garibaldi, Matteo, et al.
Publicado: (2021)

European Neuromuscular Centre consensus statement on anaesthesia in patients with neuromuscular disorders
por: van den Bersselaar, Luuk R., et al.
Publicado: (2022)

Systemic light chain amyloidosis myopathy responsive to daratumumab monotherapy
por: Chitimus, Diana Maria, et al.
Publicado: (2022)

Revisiting Frank–Starling: regulatory light chain phosphorylation alters the rate of force redevelopment (k (tr)) in a length‐dependent fashion
por: Toepfer, Christopher N., et al.
Publicado: (2016)

Glucose-dependent trans-plasma membrane electron transport and p70(S6k) phosphorylation in skeletal muscle cells
por: Kelly, Shannon C., et al.
Publicado: (2018)

Impaired structural and functional regeneration of skeletal muscles from β2-adrenoceptor knockout mice
por: Silva, M T, et al.
Publicado: (2014)

ORAI1 channel gating and selectivity is differentially altered by natural mutations in the first or third transmembrane domain
por: Bulla, M., et al.
Publicado: (2018)

Abnormal skeletal muscle blood flow, contractile mechanics and fibre morphology in a rat model of obese‐HFpEF
por: Espino‐Gonzalez, Ever, et al.
Publicado: (2021)

Irisin prevents dexamethasone-induced atrophy in C2C12 myotubes
por: Chang, Jae Seung, et al.
Publicado: (2020)

Failure to expand the motor unit size to compensate for declining motor unit numbers distinguishes sarcopenic from non‐sarcopenic older men
por: Piasecki, M., et al.
Publicado: (2018)

Advances in Newborn Screening and Presymptomatic Diagnosis of Spinal Muscular Atrophy
por: Jędrzejowska, Maria
Publicado: (2020)

Spinal Muscular Atrophy: Diagnosis, Incidence, and Newborn Screening in Japan
por: Kimizu, Tomokazu, et al.
Publicado: (2021)

Cost-Effectiveness of Newborn Screening for Spinal Muscular Atrophy in England
por: Weidlich, Diana, et al.
Publicado: (2023)

Enhanced activity of multiple TRIC‐B channels: an endoplasmic reticulum/sarcoplasmic reticulum mechanism to boost counterion currents
por: O'Brien, Fiona, et al.
Publicado: (2019)

Fast skeletal muscle troponin activator CK‐2066260 increases fatigue resistance by reducing the energetic cost of muscle contraction
por: Cheng, Arthur J., et al.
Publicado: (2019)

The determinants of transverse tubular volume in resting skeletal muscle
por: Sim, Jingwei, et al.
Publicado: (2014)

Statin myalgia is not associated with reduced muscle strength, mass or protein turnover in older male volunteers, but is allied with a slowing of time to peak power output, insulin resistance and differential muscle mRNA expression
por: Mallinson, Joanne E., et al.
Publicado: (2015)

Physiological increases in lactate inhibit intracellular calcium transients, acidify myocytes and decrease force in term pregnant rat myometrium
por: Hanley, Jacqui‐Ann, et al.
Publicado: (2015)

Dissociating external power from intramuscular exercise intensity during intermittent bilateral knee‐extension in humans
por: Davies, Matthew J., et al.
Publicado: (2017)

The Ca(2+) sensitizer CK‐2066260 increases myofibrillar Ca(2+) sensitivity and submaximal force selectively in fast skeletal muscle
por: Hwee, Darren T., et al.
Publicado: (2017)

Effect of reproductive ageing on pregnant mouse uterus and cervix
por: Patel, Rima, et al.
Publicado: (2017)

Dampened activity of ryanodine receptor channels in mutant skeletal muscle lacking TRIC‐A
por: El‐Ajouz, Sam, et al.
Publicado: (2017)

The effect of sleep restriction, with or without high‐intensity interval exercise, on myofibrillar protein synthesis in healthy young men
por: Saner, Nicholas J., et al.
Publicado: (2020)

Impaired skeletal muscle performance as a consequence of random functional capillary rarefaction can be restored with overload‐dependent angiogenesis
por: Tickle, Peter G, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_dueofahudoat35bvpv23c01hpu