Results 151 to 160 of about 9,755 (237)

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

Science-Business eXchange, 2011
openaire   +1 more source

Spinal Muscular Atrophy: Advanced Version of Screening System with Real-Time mCOP-PCR and PCR-RFLP for SMN1 Deletion.

, 2019
Emma Tabe Eko Niba, Mawaddah Ar Rochmah, Nur Imma Fatimah Harahap, Hiroyuki Awano, Ichiro Morioka, Kazumoto Iijima, Yasuhiro Takeshima, Toshio Saito, Kayoko Saito, Atsuko Takeuchi, Poh San Lai, Yoshihiro Bouike, Masafumi Matsuo, Hisahide Nishio, Masakazu Shinohara   +14 more
openalex   +1 more source

Spinal Muskuler Atrofili Olgularda Survival Motor Neuron Gen 1 (SMN1) Delesyon Sıklığı

, 2007
ÖZETAmaç: Otozomal resesif bir nöromüsküler hastalık olan Spinal Muskuler Atrofi, proksimalkaslarda ilerleyici tarzda güçsüzlük ve atrofi ile karakterizedir. Bu hastalık survival motorneuron gen 1 (SMN1)’in homozigot kaybı sonucu meydana gelir.
Bora, Elçin
core  

Locked nucleic acid (LNA) based PCR approach for the diagnosis and screening of spinal muscular atrophy. [PDF]

Indian J Med Res
Amuran GG, Polat B, Türkdoğan D, Ünver O, Akkiprik M.   +4 more
europepmc   +1 more source

Régulation transcriptionnelle du gène SMN1 dans les cellules embryonnaires P19 de souris

, 2004
Raphaël Rouget
openalex   +1 more source

Diagnostic Pitfalls in Adult-Onset Spinal Muscular Atrophy Type 4: When Incidental Lumbar Stenosis Confounds the Clinical Picture. [PDF]

Cureus
Rafique S, Rafiq I.
europepmc   +1 more source

Quantification of smn1 and SMN2 genes: importance in the diagnosis, classification, and treatment of spinal muscular atrophy [PDF]

Universitatea de Stat de Medicină şi Farmacie „Nicolae Testemiţanu”, Chişinău, Republica MoldovaIntroducere. Atrofia musculară spinală (SMA) este o boală genetică rară, cauzată de deleția genei SMN1 , esențială pentru neuronii motori.
Revenco, Ninel, Hadjiu, Svetlana, Sacară, Victoria, Ușurelu, Natalia, Coliban, Iulia   +4 more
core  

Neonatal screening for spinal muscular atrophy: Report of a multicenter study in Brazil. [PDF]

Genet Mol Biol
Oliveira Netto AB, Hentschke-Lopes M, Pasetto FB, Anjos TARD, Andrade GS, Sousa MIA, Moraes IDS, Trapp FB, Brusius-Facchin AC, Saute JAM, Becker MM, Coutinho VLS, Vilella-Arias S, Ponci V, França Junior MC, Galera MF, Amorim T, Giugliani R.   +17 more
europepmc   +1 more source

[Spinal muscular atrophy: Clinical and genetic aspects, and therapeutic alternatives]. [PDF]

Rev Med Inst Mex Seguro Soc
González-Morales IJ, Olivera-Bernal GC, León-González C DA, Rosas-Vargas H.   +3 more
europepmc   +1 more source

Fibro-adipogenic progenitor cells from murine SMA muscles are intrinsically adipogenic. [PDF]

Proc Natl Acad Sci U S A
Luo YE, Abe-Teh Z, Alsaghir T, Heiden KD, Basso KB, Barton ER.   +5 more
europepmc   +1 more source