Results for &quot;&quot;Survival of Motor Neuron 1 Protein&quot;&quot;[mesh_terms]

Synthetic Nucleic Acids and Treatment of Neurological Diseases.

David R Corey

JAMA neurology 2017;73(10):1238-1242

Metabolic and Nutritional Issues Associated with Spinal Muscular Atrophy.

Yang-Jean Li, Tai-Heng Chen, Yan-Zhang Wu, Yung-Hao Tseng

Nutrients 2021;12(12):

A comprehensive overview of SMN and NAIP copy numbers in Iranian SMA patients.

Shahram Savad, Mahmoud Reza Ashrafi, Niusha Samadaian, Morteza Heidari, Mohammad-Hossein Modarressi, Gholamreza Zamani, Saloomeh Amidi, Sarang Younesi, Mohammad Mahdi Taheri Amin, Pourandokht Saadati, Alireza Ronagh, Hossein Shojaaldini Ardakani, Solat Eslami, Soudeh Ghafouri-Fard

Scientific reports 2023;13(1):3202

SMN Deficiency Destabilizes ABCA1 Expression in Human Fibroblasts: Novel Insights in Pathophysiology of Spinal Muscular Atrophy.

Francesca Gabanella, Annalisa Onori, Cinzia Pisani, Marco Fiore, Giampiero Ferraguti, Andrea Colizza, Marco de Vincentiis, Marco Ceccanti, Maurizio Inghilleri, Nicoletta Corbi, Claudio Passananti, Maria Grazia Di Certo

International journal of molecular sciences 2023;24(3):2916

Subtle mutation detection of SMN1 gene in Chinese spinal muscular atrophy patients: implication of molecular diagnostic procedure for SMN1 gene mutations.

Jin-Li Bai, Yu-Jin Qu, Yan-Yan Cao, Ee-Zhen Li, Li-Wen Wang, Yan Li, Yan-Li Zhu, Wen-Hui Zhang, Yu-Wei Jin, Hong Wang, Fang Song

Genetic testing and molecular biomarkers 2015;18(8):546-51

Molecular inversion probe-rolling circle amplification with single-strand poly-T luminescent copper nanoclusters for fluorescent detection of single-nucleotide variant of SMN gene in diagnosis of spinal muscular atrophy.

Chung-An Chen, Chun-Chi Wang, Hwang-Shang Kou, Shou-Mei Wu

Analytica chimica acta 2021;1123():56-63

Spinal muscular atrophy and therapeutic prospects.

Brunhilde Wirth, Lars Brichta, Eric Hahnen

Progress in molecular and subcellular biology 2007;44():109-32

An observational study of functional abilities in infants, children, and adults with type 1 SMA.

Marika Pane, Concetta Palermo, Sonia Messina, Valeria A Sansone, Claudio Bruno, Michela Catteruccia, Maria Sframeli, Emilio Albamonte, Marina Pedemonte, Adele D'Amico, Giorgia Brigati, Roberto de Sanctis, Giorgia Coratti, Simona Lucibello, Enrico Bertini, Giuseppe Vita, Francesco Danilo Tiziano, Eugenio Mercuri

Neurology 2019;91(8):e696-e703

An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA).

B Wirth

Human mutation 2000;15(3):228-37

Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy.

Jerry R Mendell, Samiah Al-Zaidy, Richard Shell, W Dave Arnold, Louise R Rodino-Klapac, Thomas W Prior, Linda Lowes, Lindsay Alfano, Katherine Berry, Kathleen Church, John T Kissel, Sukumar Nagendran, James L'Italien, Douglas M Sproule, Courtney Wells, Jessica A Cardenas, Marjet D Heitzer, Allan Kaspar, Sarah Corcoran, Lyndsey Braun, Shibi Likhite, Carlos Miranda, Kathrin Meyer, K D Foust, Arthur H M Burghes, Brian K Kaspar

The New England journal of medicine 2017;377(18):1713-1722