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Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial
Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial
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Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial

Strauss, Kevin A ; Farrar, Michelle A ; Muntoni, Francesco ; Saito, Kayoko ; Mendell, Jerry R ; Servais, Laurent ; McMillan, Hugh J ; Finkel, Richard S ; Swoboda, Kathryn J ; Kwon, Jennifer M ; Zaidman, Craig M ; Chiriboga, Claudia A ; Iannaccone, Susan T ; Krueger, Jena M ; Parsons, Julie A ; Shieh, Perry B ; Kavanagh, Sarah ; Wigderson, Melissa ; Tauscher-Wisniewski, Sitra ; McGill, Bryan E ; Macek, Thomas A

Nature medicine, 2022-07, Vol.28 (7), p.1390-1397 [Periódico revisado por pares]

United States: Nature Publishing Group

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2
Natural history of infantile‐onset spinal muscular atrophy
Natural history of infantile‐onset spinal muscular atrophy
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Natural history of infantile‐onset spinal muscular atrophy

Kolb, Stephen J. ; Coffey, Christopher S. ; Yankey, Jon W. ; Krosschell, Kristin ; Arnold, W. David ; Rutkove, Seward B. ; Swoboda, Kathryn J. ; Reyna, Sandra P. ; Sakonju, Ai ; Darras, Basil T. ; Shell, Richard ; Kuntz, Nancy ; Castro, Diana ; Parsons, Julie ; Connolly, Anne M. ; Chiriboga, Claudia A. ; McDonald, Craig ; Burnette, W. Bryan ; Werner, Klaus ; Thangarajh, Mathula ; Shieh, Perry B. ; Finanger, Erika ; Cudkowicz, Merit E. ; McGovern, Michelle M. ; McNeil, D. Elizabeth ; Finkel, Richard ; Iannaccone, Susan T. ; Kaye, Edward ; Kingsley, Allison ; Renusch, Samantha R. ; McGovern, Vicki L. ; Wang, Xueqian ; Zaworski, Phillip G. ; Prior, Thomas W. ; Burghes, Arthur H.M. ; Bartlett, Amy ; Kissel, John T.

Annals of neurology, 2017-12, Vol.82 (6), p.883-891 [Periódico revisado por pares]

United States: Wiley Subscription Services, Inc

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3
Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired Endocytosis
Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired Endocytosis
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Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired Endocytosis

Riessland, Markus ; Kaczmarek, Anna ; Schneider, Svenja ; Swoboda, Kathryn J. ; Löhr, Heiko ; Bradler, Cathleen ; Grysko, Vanessa ; Dimitriadi, Maria ; Hosseinibarkooie, Seyyedmohsen ; Torres-Benito, Laura ; Peters, Miriam ; Upadhyay, Aaradhita ; Biglari, Nasim ; Kröber, Sandra ; Hölker, Irmgard ; Garbes, Lutz ; Gilissen, Christian ; Hoischen, Alexander ; Nürnberg, Gudrun ; Nürnberg, Peter ; Walter, Michael ; Rigo, Frank ; Bennett, C. Frank ; Kye, Min Jeong ; Hart, Anne C. ; Hammerschmidt, Matthias ; Kloppenburg, Peter ; Wirth, Brunhilde

American journal of human genetics, 2017-02, Vol.100 (2), p.297-315 [Periódico revisado por pares]

United States: Elsevier Inc

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4
Spinal Muscular Atrophy
Spinal Muscular Atrophy
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Spinal Muscular Atrophy

Kolb, Stephen J., MD, PhD ; Kissel, John T., MD

Neurologic clinics, 2015-11, Vol.33 (4), p.831-846 [Periódico revisado por pares]

United States: Elsevier Inc

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5
Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial
Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial
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Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial

Strauss, Kevin A ; Farrar, Michelle A ; Muntoni, Francesco ; Saito, Kayoko ; Mendell, Jerry R ; Servais, Laurent ; McMillan, Hugh J ; Finkel, Richard S ; Swoboda, Kathryn J ; Kwon, Jennifer M ; Zaidman, Craig M ; Chiriboga, Claudia A ; Iannaccone, Susan T ; Krueger, Jena M ; Parsons, Julie A ; Shieh, Perry B ; Kavanagh, Sarah ; Tauscher-Wisniewski, Sitra ; McGill, Bryan E ; Macek, Thomas A

Nature medicine, 2022-07, Vol.28 (7), p.1381-1389 [Periódico revisado por pares]

New York: Nature Publishing Group

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6
Resolving the full spectrum of human genome variation using Linked-Reads
Resolving the full spectrum of human genome variation using Linked-Reads
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Resolving the full spectrum of human genome variation using Linked-Reads

Marks, Patrick ; Garcia, Sarah ; Barrio, Alvaro Martinez ; Belhocine, Kamila ; Bernate, Jorge ; Bharadwaj, Rajiv ; Bjornson, Keith ; Catalanotti, Claudia ; Delaney, Josh ; Fehr, Adrian ; Fiddes, Ian T ; Galvin, Brendan ; Heaton, Haynes ; Herschleb, Jill ; Hindson, Christopher ; Holt, Esty ; Jabara, Cassandra B ; Jett, Susanna ; Keivanfar, Nikka ; Kyriazopoulou-Panagiotopoulou, Sofia ; Lek, Monkol ; Lin, Bill ; Lowe, Adam ; Mahamdallie, Shazia ; Maheshwari, Shamoni ; Makarewicz, Tony ; Marshall, Jamie ; Meschi, Francesca ; O'Keefe, Christopher J ; Ordonez, Heather ; Patel, Pranav ; Price, Andrew ; Royall, Ariel ; Ruark, Elise ; Seal, Sheila ; Schnall-Levin, Michael ; Shah, Preyas ; Stafford, David ; Williams, Stephen ; Wu, Indira ; Xu, Andrew Wei ; Rahman, Nazneen ; MacArthur, Daniel ; Church, Deanna M

Genome research, 2019-04, Vol.29 (4), p.635-645 [Periódico revisado por pares]

United States: Cold Spring Harbor Laboratory Press

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7
Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy in patients with two copies of SMN2 (STR1VE): an open-label, single-arm, multicentre, phase 3 trial
Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy in patients with two copies of SMN2 (STR1VE): an open-label, single-arm, multicentre, phase 3 trial
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Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy in patients with two copies of SMN2 (STR1VE): an open-label, single-arm, multicentre, phase 3 trial

Day, John W ; Finkel, Richard S ; Chiriboga, Claudia A ; Connolly, Anne M ; Crawford, Thomas O ; Darras, Basil T ; Iannaccone, Susan T ; Kuntz, Nancy L ; Peña, Loren D M ; Shieh, Perry B ; Smith, Edward C ; Kwon, Jennifer M ; Zaidman, Craig M ; Schultz, Meredith ; Feltner, Douglas E ; Tauscher-Wisniewski, Sitra ; Ouyang, Haojun ; Chand, Deepa H ; Sproule, Douglas M ; Macek, Thomas A ; Mendell, Jerry R

Lancet neurology, 2021-04, Vol.20 (4), p.284-293 [Periódico revisado por pares]

England: Elsevier Ltd

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8
The clinical landscape for SMA in a new therapeutic era
The clinical landscape for SMA in a new therapeutic era
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The clinical landscape for SMA in a new therapeutic era

Talbot, K ; Tizzano, E F

Gene therapy, 2017-09, Vol.24 (9), p.529-533 [Periódico revisado por pares]

England: Nature Publishing Group

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9
Base editing rescue of spinal muscular atrophy in cells and in mice
Base editing rescue of spinal muscular atrophy in cells and in mice
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Base editing rescue of spinal muscular atrophy in cells and in mice

Arbab, Mandana ; Matuszek, Zaneta ; Kray, Kaitlyn M ; Du, Ailing ; Newby, Gregory A ; Blatnik, Anton J ; Raguram, Aditya ; Richter, Michelle F ; Zhao, Kevin T ; Levy, Jonathan M ; Shen, Max W ; Arnold, W David ; Wang, Dan ; Xie, Jun ; Gao, Guangping ; Burghes, Arthur H M ; Liu, David R

Science (American Association for the Advancement of Science), 2023-04, Vol.380 (6642), p.eadg6518-eadg6518 [Periódico revisado por pares]

United States: The American Association for the Advancement of Science

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10
RNA-sequencing of a mouse-model of spinal muscular atrophy reveals tissue-wide changes in splicing of U12-dependent introns
RNA-sequencing of a mouse-model of spinal muscular atrophy reveals tissue-wide changes in splicing of U12-dependent introns
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RNA-sequencing of a mouse-model of spinal muscular atrophy reveals tissue-wide changes in splicing of U12-dependent introns

Doktor, Thomas Koed ; Hua, Yimin ; Andersen, Henriette Skovgaard ; Brøner, Sabrina ; Liu, Ying Hsiu ; Wieckowska, Anna ; Dembic, Maja ; Bruun, Gitte Hoffmann ; Krainer, Adrian R ; Andresen, Brage Storstein

Nucleic acids research, 2017-01, Vol.45 (1), p.395-416 [Periódico revisado por pares]

England: Oxford University Press

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