Results 181 to 190 of about 840,189 (237)

Development and validation of a 4-color multiplexing spinal muscular atrophy (SMA) genotyping assay on a novel integrated digital PCR instrument. [PDF]

Sci Rep, 2020
Jiang L, Lin R, Gallagher S, Zayac A, Butchbach MER, Hung P.   +5 more
europepmc   +1 more source

A transcriptomics-based drug repositioning approach to identify drugs with similar activities for the treatment of muscle pathologies in spinal muscular atrophy (SMA) models. [PDF]

Hum Mol Genet
Hoolachan JM, McCallion E, Sutton ER, Çetin Ö, Pacheco-Torres P, Dimitriadi M, Sari S, Miller GJ, Okoh M, Walter LM, Claus P, Wood MJA, Tonge DP, Bowerman M.   +13 more
europepmc   +1 more source

Onasemnogene Abeparvovec: Post-infusion Efficacy and Safety in Patients With Spinal Muscular Atrophy (SMA)-A Fondazione Policlinico Gemelli IRCCS Experience. [PDF]

Hosp Pharm
Favia M, Tarantino D, Cerbo LD, Sabia A, Campopiano R, Pani M.   +5 more
europepmc   +1 more source

Peripheral drug delivery for spinal muscular atrophy (SMA) [PDF]

Science-Business eXchange, 2011
openaire   +1 more source

Machine learning predicts treatment response to nusinersen in non-sitter Spinal Muscular Atrophy (SMA).

Stimpson G, O'Reilly E, Coratti G, Ridout D, Chakraborti T, Mitra R, de Sanctis R, Pane M, Scoto M, Mercuri E, Muntoni F, Baranello G, International SMA Consortium.   +12 more
europepmc   +1 more source

An Integrated Safety Analysis of Infants and Children with Symptomatic Spinal Muscular Atrophy (SMA) Treated with Nusinersen in Seven Clinical Trials. [PDF]

CNS Drugs, 2019
Darras BT, Farrar MA, Mercuri E, Finkel RS, Foster R, Hughes SG, Bhan I, Farwell W, Gheuens S.   +8 more
europepmc   +1 more source

Delayed diagnosis and genetic testing in spinal muscular atrophy: a case series. [PDF]

Ann Med
Guo X, Luo Y, Li M, Li C, Chang Z, Zhu S, Wang Q, Huang Y.   +7 more
europepmc   +1 more source

Spinal muscular atrophy (SMA) type II with scoliosis

, 2010
openaire   +1 more source

Diagnostic Code Ambiguity and Misclassification of Adults With Spinal Muscular Atrophy: Single-Center Chart Review. [PDF]

JMIR Med Inform
Holly G, Bean B, Beshay H, Edwards G, Streicher N.   +4 more
europepmc   +1 more source

Nationwide Epidemiology of Motor Neuron Diseases in Latvia (2020-2024): Incidence, Prevalence, and Clinical Characteristics. [PDF]

Eur J Neurol
Krutovs V, Grosmane A, Kažmere RR, Roddate M, Ķauķe G, Grosa DP, Šetlere S, Dīriks M, Karelis G, Ķēniņa V.   +9 more
europepmc   +1 more source