Results 91 to 100 of about 1,718 (175)

Presymptomatic risdiplam treatment in an infant with homozygous SMN1 deletion and two SMN2 copies: age-appropriate motor development at 6 months

Egyptian Pediatric Association Gazette
Background Spinal muscular atrophy (SMA) is a progressive neuromuscular disorder caused by biallelic SMN1 deletion or mutation, leading to degeneration of anterior horn motor neurons.
Süleyman Şahin, Mehmet Alçı, Büşra Kaygusuz Aydemir, Fatma Sargın, Halil Çelik   +4 more
doaj   +1 more source

Male Reproduction in Spinal Muscular Atrophy (SMA) and the Potential Impact of Oral Survival of Motor Neuron 2 (SMN2) Pre-mRNA Splicing Modifiers

Neurology and Therapy
Spinal muscular atrophy (SMA) is a neuromuscular disease caused by deletions or mutations in the survival of motor neuron 1 (SMN1) gene resulting in reduced levels of SMN protein.
Natan Bar-Chama, Bakri Elsheikh, Channa Hewamadduma, Carol Jean Guittari, Ksenija Gorni, Lutz Mueller   +5 more
doaj   +1 more source

SMA tedavisinde kullanılan risdiplam molekülünün kısa nükleik asit dizileriyle etkileşimlerinin hesapsal yöntemlerle incelenmesi

Bu tez çalışmasında, SMA hastalığının tedavisinde kullanılan Risdiplam molekülü ile SMN2 genine karşılık gelen pre-mRNA Exon7 sekansının dinükleotidlere bölünerek (GG, UU, AA, UA, AG, GA, AC, CA, UC, GU, AU) oluşan 11 Ribodinükleotit arasındaki ...
Açar Selçuki, Nursel
core  

An approach for the systematic profiling of drug-induced remodeling of RNA-RBP (RNA-binding protein) interactions. [PDF]

RSC Adv
Jiao Y, Zhao J, Fu B, Dong P, Qian X, Liu T, Qin W.   +6 more
europepmc   +1 more source

Risdiplam Impact in Treatment Naïve and Non-Naïve Pediatric and Adult Patients With Spinal Muscular Atrophy. [PDF]

Eur J Neurol
Yee POP, Ip HHN, Yu MKL, Cheng PK, Wong WHS, Ng PPH, Kwong NST, Lam P, Cheung MW, Tung A, Chan S, Ng S, Yeung WL, Wong S, Gao Y, Pang S, Chan SHS.   +16 more
europepmc   +1 more source

Supplementary materials: How does risdiplam compare with other treatments for Types 1–3 spinal muscular atrophy: a systematic literature review and indirect treatment comparison

These are peer-reviewed supplementary materials for the article 'How does risdiplam compare with other treatments for Types 1–3 spinal muscular atrophy: a systematic literature review and indirect treatment comparison' published in the Journal of ...
Monica Daigl (18498896), David Scott (18498905), Neil Hawkins (330130), Anadi Mahajan (7052984), Rachel Evans (18498901), Valerie Ribero (18498895), Keith Abrams (9208322), Yasmina Marti (18498899), Ksenija Gorni (819986)   +8 more
core   +1 more source

Risdiplam for spinal muscular atrophy

Australian Prescriber, 2022
openaire   +2 more sources

Risdiplam therapy in adult patients with Spinal muscular Atrophy (SMA). A 24-month-real-world experience at a single muscular centre. [PDF]

Acta Myol
Cesarone E, Picillo E, Scutifero M, Passamano L, Nigro V.   +4 more
europepmc   +1 more source

Summary of Research: Risdiplam Treatment Following Onasemnogene Abeparvovec in Individuals with Spinal Muscular Atrophy: A Multicenter Case Series. [PDF]

Adv Ther
Svoboda MD, Kuntz N, Leon-Astudillo C, Byrne BJ, Krueger J, Kwon JM, Sieburg C, Castro D.   +7 more
europepmc   +1 more source

Risdiplam improves subjective swallowing quality in non-ambulatory adult patients with 5q-spinal muscular atrophy despite advanced motor impairment

<jats:title>Abstract</jats:title><jats:sec> <jats:title>Background</jats:title> <jats:p>5q-associated spinal muscular atrophy (SMA) is characterized by the progressive loss of motor ...
Brakemeier, S., Hagenacker, Tim, Kleinschnitz, C., Schlag, M., Lipka, J.   +4 more
core   +1 more source