Natural history of denervation in SMA: relation to age, SMN2 copy number, and function - Wikidata - wikimedia - TriplyDB

Natural history of denervation in SMA: relation to age, SMN2 copy number, and function

Natural history of denervation in SMA: relation to age, SMN2 copy number, and function

http://www.wikidata.org/entity/Q35101830

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Spinal muscular atrophy Evaluation of muscle strength and motor abilities in children with type II and III spinal muscle atrophy treated with valproic acid SMA CARNIVAL TRIAL PART II: a prospective, single-armed trial of L-carnitine and valproic acid in ambulatory children with spinal muscular atrophy SMA CARNI-VAL trial part I: double-blind, randomized, placebo-controlled trial of L-carnitine and valproic acid in spinal muscular atrophy Drug treatment for spinal muscular atrophy types II and III Drug treatment for spinal muscular atrophy type I Drug treatment for spinal muscular atrophy types II and III Drug treatment for spinal muscular atrophy type I Drug treatment for spinal muscular atrophy type I Drug treatment for spinal muscular atrophy types II and III Copy Number Variations in the Survival Motor Neuron Genes: Implications for Spinal Muscular Atrophy and Other Neurodegenerative Diseases Is spinal muscular atrophy a disease of the motor neurons only: pathogenesis and therapeutic implications?Spinal muscular atrophy: from gene discovery to clinical trials Spinal muscular atrophy: development and implementation of potential treatments Bone health and associated metabolic complications in neuromuscular diseases A large animal model of spinal muscular atrophy and correction of phenotype.Spinal Muscular Atrophy A modified Hammersmith functional motor scale for use in multi-center research on spinal muscular atrophy Clinical approach to the diagnostic evaluation of hereditary and acquired neuromuscular diseases Phase II open label study of valproic acid in spinal muscular atrophy Small molecule suppressors of Drosophila kinesin deficiency rescue motor axon development in a zebrafish model of spinal muscular atrophy SMN in spinal muscular atrophy and snRNP biogenesis Consensus Statement for Standard of Care in Spinal Muscular Atrophy Postsymptomatic restoration of SMN rescues the disease phenotype in a mouse model of severe spinal muscular atrophy.SMN is required for sensory-motor circuit function in Drosophila.Requirement of enhanced Survival Motoneuron protein imposed during neuromuscular junction maturation.Protective effects of butyrate-based compounds on a mouse model for spinal muscular atrophy.Emerging therapies and challenges in spinal muscular atrophy Electrophysiological properties of motor neurons in a mouse model of severe spinal muscular atrophy: in vitro versus in vivo development Development of histone deacetylase inhibitors as therapeutics for neurological disease Single-Cell Analysis of SMN Reveals Its Broader Role in Neuromuscular Disease.Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?The motor neuron response to SMN1 deficiency in spinal muscular atrophy Assessing spinal muscular atrophy with quantitative ultrasound.Observational study of spinal muscular atrophy type I and implications for clinical trials.Transcriptome profiling of spinal muscular atrophy motor neurons derived from mouse embryonic stem cells Drug discovery and development for spinal muscular atrophy: lessons from screening approaches and future challenges for clinical development.Temporal requirement for high SMN expression in SMA mice New therapeutic approaches to spinal muscular atrophy.Compound muscle action potential and motor function in children with spinal muscular atrophy.

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P2860

Natural history of denervation in SMA: relation to age, SMN2 copy number, and function

http://www.wikidata.org/entity/Q35101830

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2005 nî lūn-bûn

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2005 թուականի Մայիսին հրատարակուած գիտական յօդուած

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2005年の論文

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Natural history of denervation in SMA: relation to age, SMN2 copy number, and function

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Natural history of denervation in SMA: relation to age, SMN2 copy number, and function

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Natural history of denervation in SMA: relation to age, SMN2 copy number, and function

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Natural history of denervation in SMA: relation to age, SMN2 copy number, and function

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Natural history of denervation in SMA: relation to age, SMN2 copy number, and function

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Natural history of denervation in SMA: relation to age, SMN2 copy number, and function

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P1433

Annals of Neurology

P1476

Natural history of denervation in SMA: relation to age, SMN2 copy number, and function

@en

P2093

Charles B Scott

http://www.w3.org/2001/XMLSchema#string

Mark B Bromberg

http://www.w3.org/2001/XMLSchema#string

Mark C Wride

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Sandra P Reyna

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Teresa P McNaught

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Thomas W Prior

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P2860

The SMN-SIP1 complex has an essential role in spliceosomal snRNP biogenesis

Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophy

Valproic acid increases the SMN2 protein level: a well-known drug as a potential therapy for spinal muscular atrophy

Aclarubicin treatment restores SMN levels to cells derived from type I spinal muscular atrophy patients

Population frequencies of inherited neuromuscular diseases--a world survey

The gene frequency of acute Werdnig-Hoffmann disease (SMA type 1). A total population survey in North-East England

Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy

A hungarian study on Werdnig-Hoffmann disease.

A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2.

Treatment of spinal muscular atrophy by sodium butyrate.

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704-712

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scholarly article

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10.1002/ANA.20473

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5

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57

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Kathryn J Swoboda

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2005-05-01T00:00:00Z

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15852397

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4334582

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