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1
The spinal and cerebral profile of adult spinal-muscular atrophy: A multimodal imaging study
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The spinal and cerebral profile of adult spinal-muscular atrophy: A multimodal imaging study

Querin, Giorgia ; El Mendili, Mohamed-Mounir ; Lenglet, Timothée ; Behin, Anthony ; Stojkovic, Tanya ; Salachas, François ; Devos, David ; Le Forestier, Nadine ; del Mar Amador, Maria ; Debs, Rabab ; Lacomblez, Lucette ; Meininger, Vincent ; Bruneteau, Gaëlle ; Cohen-Adad, Julien ; Lehéricy, Stéphane ; Laforêt, Pascal ; Blancho, Sophie ; Benali, Habib ; Catala, Martin ; Li, Menghan ; Marchand-Pauvert, Véronique ; Hogrel, Jean-Yves ; Bede, Peter ; Pradat, Pierre-François

NeuroImage clinical, 2019-01, Vol.21, p.101618-101618, Article 101618 [Periódico revisado por pares]

Netherlands: Elsevier Inc

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FDA-Approved Oligonucleotide Therapies in 2017
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Artigo
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FDA-Approved Oligonucleotide Therapies in 2017

Stein, Cy A. ; Castanotto, Daniela

Molecular therapy, 2017-05, Vol.25 (5), p.1069-1075 [Periódico revisado por pares]

United States: Elsevier Inc

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3
The role of survival motor neuron protein (SMN) in protein homeostasis
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The role of survival motor neuron protein (SMN) in protein homeostasis

Chaytow, Helena ; Huang, Yu-Ting ; Gillingwater, Thomas H. ; Faller, Kiterie M. E.

Cellular and molecular life sciences : CMLS, 2018-11, Vol.75 (21), p.3877-3894 [Periódico revisado por pares]

Cham: Springer International Publishing

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4
Improving Single Injection CSF Delivery of AAV9-mediated Gene Therapy for SMA: A Dose–response Study in Mice and Nonhuman Primates
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Improving Single Injection CSF Delivery of AAV9-mediated Gene Therapy for SMA: A Dose–response Study in Mice and Nonhuman Primates

Meyer, Kathrin ; Ferraiuolo, Laura ; Schmelzer, Leah ; Braun, Lyndsey ; McGovern, Vicki ; Likhite, Shibi ; Michels, Olivia ; Govoni, Alessandra ; Fitzgerald, Julie ; Morales, Pablo ; Foust, Kevin D ; Mendell, Jerry R ; Burghes, Arthur H M ; Kaspar, Brian K

Molecular therapy, 2015-03, Vol.23 (3), p.477-487 [Periódico revisado por pares]

United States: Elsevier Inc

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5
Atrial Septal Defect, Neuromuscular Junction and Skeletal Abnormalities in Spinal Muscular Atrophy Type III
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Atrial Septal Defect, Neuromuscular Junction and Skeletal Abnormalities in Spinal Muscular Atrophy Type III

Luan, Xing-Hua ; Liu, Jun

Chinese medical journal, 2017-10, Vol.130 (19), p.2382-2383 [Periódico revisado por pares]

China: Medknow Publications and Media Pvt. Ltd

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6
Acid ceramidase deficiency: Farber disease and SMA-PME
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Artigo
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Acid ceramidase deficiency: Farber disease and SMA-PME

Yu, Fabian P S ; Amintas, Samuel ; Levade, Thierry ; Medin, Jeffrey A

Orphanet journal of rare diseases, 2018-07, Vol.13 (1), p.121-121, Article 121 [Periódico revisado por pares]

England: BioMed Central Ltd

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7
Camptocormia in Parkinson's disease: definition, epidemiology, pathogenesis and treatment modalities
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Camptocormia in Parkinson's disease: definition, epidemiology, pathogenesis and treatment modalities

Srivanitchapoom, Prachaya ; Hallett, Mark

Journal of Neurology, Neurosurgery and Psychiatry, 2016-01, Vol.87 (1), p.75-85 [Periódico revisado por pares]

England: BMJ Publishing Group LTD

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8
Total protein analysis as a reliable loading control for quantitative fluorescent Western blotting
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Total protein analysis as a reliable loading control for quantitative fluorescent Western blotting

Eaton, Samantha L ; Roche, Sarah L ; Llavero Hurtado, Maica ; Oldknow, Karla J ; Farquharson, Colin ; Gillingwater, Thomas H ; Wishart, Thomas M Kahle, Philipp J.

PloS one, 2013-08, Vol.8 (8), p.e72457-e72457 [Periódico revisado por pares]

United States: Public Library of Science

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9
Systemic peptide-mediated oligonucleotide therapy improves long-term survival in spinal muscular atrophy
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Systemic peptide-mediated oligonucleotide therapy improves long-term survival in spinal muscular atrophy

Hammond, Suzan M. ; Hazell, Gareth ; Shabanpoor, Fazel ; Saleh, Amer F. ; Bowerman, Melissa ; Sleigh, James N. ; Meijboom, Katharina E. ; Zhou, Haiyan ; Muntoni, Francesco ; Talbot, Kevin ; Gait, Michael J. ; Wood, Matthew J. A.

Proceedings of the National Academy of Sciences - PNAS, 2016-09, Vol.113 (39), p.10962-10967 [Periódico revisado por pares]

United States: National Academy of Sciences

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10
New and Developing Therapies in Spinal Muscular Atrophy: From Genotype to Phenotype to Treatment and Where Do We Stand?
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New and Developing Therapies in Spinal Muscular Atrophy: From Genotype to Phenotype to Treatment and Where Do We Stand?

Chen, Tai-Heng

International journal of molecular sciences, 2020-05, Vol.21 (9), p.3297 [Periódico revisado por pares]

Switzerland: MDPI AG

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