Results 151 to 160 of about 12,639 (247)

Proband-independent noninvasive prenatal diagnosis for spinal muscular atrophy: early detection paving the way for early prenatal treatment. [PDF]

Ann Med
Li H, Gao S, Li S, Zhao Z, Fu X, Zhu J, Feng J, Tang W, Wu D, Kong X.   +9 more
europepmc   +1 more source

Baseline results of the NeuroNEXT spinal muscular atrophy infant biomarker study [PDF]

, 2016
Connolly, Anne M, et al,
core   +2 more sources

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

, 2004
Raphaël Rouget
openalex   +2 more sources

Nusinersen versus sham control in later-onset spinal muscular atrophy [PDF]

, 2018
Connolly, A. M., et al,
core   +1 more source

Loss of SMN Impairs Osteoblast-Osteoclast Coupling via IGF1-Akt-OPG Axis in Spinal Muscular Atrophy. [PDF]

FASEB J
Xiang T, Zhou Z, Li Y, Suo Y, Dai J, Shi X, Zhou X, Sheng L.   +7 more
europepmc   +1 more source

Carrier screening for multiple complex monogenic diseases using long-read sequencing: a population-based study of premarital couples in Shanghai. [PDF]

Hum Genomics
Hua R, Li S, Cui D, Lu Y, Li Y, Lin Y, Gao L, Lv S, Ma R, Mao A, Han X, Wang J, Wang Y.   +12 more
europepmc   +1 more source

Implementation of SMA carrier testing in genetic laboratories: comparison of two methods for quantifying theSMN1gene [PDF]

, 2002
Ivon Cuscó, M. J. Barceló, Montserrat Baiget, Eduardo F. Tizzano   +3 more
openalex   +1 more source

Systemic mRNA-LNP administration in fetuses improves survival in a mouse model of spinal muscular atrophy. [PDF]

Mol Ther Methods Clin Dev
Carpenter MD, Kus N, Choi RB, Said H, Dumitru AM, Bauer JH, Wang S, Luks V, Teerdhala S, Shah A, Zoltick PW, Alameh MG, Peranteau W.   +12 more
europepmc   +1 more source

Evaluation of the Telomere Length in Patients with Spinal Muscular Atrophy. [PDF]

Int J Mol Sci
Okur Altındaş B, Öktem S, Çarman KB, Yıldırım MS.   +3 more
europepmc   +1 more source

Incidence of Homozygous <i>SMN2</i> Deletion in Japan: Cross-Reactivity of <i>SMN2</i> Primers with <i>SMN1</i> Sequence Causes False Negatives in Real-Time PCR Screening. [PDF]

Genes (Basel)
Sakima M, Bouike Y, Wada SI, Nakamae M, Noguchi Y, Bo R, Awano H, Oba J, Nishio H.   +8 more
europepmc   +1 more source