Results 141 to 150 of about 9,755 (237)

Rare SMA Patients: A Comprehensive Look at Clinical Features, Genetic Profiles and Therapeutic Approaches. [PDF]

Int J Mol Sci
Mikhalchuk K, Artemieva S, Zabnenkova V, Akhkiamova M, Dadali E, Rudenskaya G, Sparber P, Rybakova O, Papina Y, Monakhova A, Shulyakova I, Saiko D, Zhiteneva S, Polyakov A, Shchagina O.   +14 more
europepmc   +1 more source

Rôle du gène SMN1 dans le développement et la survie des motoneurones

Problématique : L'amyotrophie spinale (SMA) est une maladie rare qui touche environ une naissance sur 6 000. Elle s’attaque spécifiquement aux cellules nerveuses, appelées les motoneurones, qui contrôlent les muscles volontaires et entraîne leur ...
Patten, Shunmoogum A., Jamadagni, Priyanka, Giacomotto, Jean   +2 more
core  

Newborn Screening for Spinal Muscular Atrophy in the Republic of Moldova: A Feasibility Study and First Steps. [PDF]

Int J Neonatal Screen
Coliban I, Usurelu N, Opalco I, Gladun S, Sacara V.   +4 more
europepmc   +1 more source

Nusinersen: the antisense oligonucleotide at the forefront of spinal muscular atrophy treatment. [PDF]

RNA Biol
Singh NN, Ottesen EW, Singh RN.
europepmc   +1 more source

SMA Diagnosis: Detection of SMN1 Deletion with Real-Time mCOP-PCR System Using Fresh Blood DNA.

, 2017
Emma Tabe Eko Niba, Mawaddah Ar Rochmah, Nur Imma Fatimah Harahap, Hiroyuki Awano, Ichiro Morioka, Kazumoto Iijima, Toshio Saito, Kayoko Saito, Atsuko Takeuchi, Poh San Lai, Yoshihiro Bouike, Hisahide Nishio, Masakazu Shinohara   +12 more
openalex   +1 more source

Survival of motor neuron 1 telomeric (SMN1) [PDF]

Science-Business eXchange, 2010
openaire   +3 more sources

Spinal muscular atrophy type I in a 3.5-month-old male infant: A case report. [PDF]

Medicine (Baltimore)
Nawaz RN, Asjad W, Bashir R, Saeed SAA, Tayyab MZ, Khalid M.   +5 more
europepmc   +1 more source

Reproductive Genetic Carrier Screening in Romania: A Couple-Based Study of Pathogenic Molecular Variants. [PDF]

Int J Mol Sci
Gug M, Gug C, Jurca AA, Popoiu TA, Patrascu R, Roman PA, Olteanu L, Andreescu N.   +7 more
europepmc   +1 more source

SMN1 variants identified by false-positive SMA newborn screening tests: Therapeutic hurdles and functional and epidemiological solutions. [PDF]

Am J Hum Genet
Wirth B, Das J, Kölbel H, Goh S, Farrar MA, Piano V, Zetzsche S, Fuhrmann N, Becker J, Karakaya M, Zhang Y, Cao Y, Taghipour-Sheshdeh A, Stringer BW, Giacomotto J.   +14 more
europepmc   +1 more source

A dual-mode targeted Nanopore sequencing assay for comprehensive SMN1 and SMN2 variant analysis [PDF]

B. D. Hall, Sawsan Alyafei, Sathishkumar Ramaswamy, Shruti Sinha, Maha El Naofal, Fatma Rabea, Bryan Killinger, Gary J. Latham, Ahmad Abou Tayoun   +8 more
openalex   +1 more source