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Kathryn J Swoboda
Kathryn J Swoboda
Professor, Department of Neurology, Massachusetts General Hospital
Dirección de correo verificada de mgh.harvard.edu - Página principal
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Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care
E Mercuri, RS Finkel, F Muntoni, B Wirth, J Montes, M Main, ES Mazzone, ...
Neuromuscular disorders 28 (2), 103-115, 2018
8752018
Escaping the nuclear confines: signal-dependent pre-mRNA splicing in anucleate platelets
MM Denis, ND Tolley, M Bunting, H Schwertz, H Jiang, S Lindemann, ...
Cell 122 (3), 379-391, 2005
7672005
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum
EE Davis, Q Zhang, Q Liu, BH Diplas, LM Davey, J Hartley, C Stoetzel, ...
Nature genetics 43 (3), 189-196, 2011
660*2011
Results from a phase 1 study of nusinersen (ISIS-SMNRx) in children with spinal muscular atrophy
CA Chiriboga, KJ Swoboda, BT Darras, ST Iannaccone, J Montes, ...
Neurology 86 (10), 890-897, 2016
6552016
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1
YJ Crow, DS Chase, J Lowenstein Schmidt, M Szynkiewicz, GMA Forte, ...
American journal of medical genetics Part A 167 (2), 296-312, 2015
5582015
Natural history of denervation in SMA: Relation to age, SMN2 copy number, and function
KJ Swoboda, TW Prior, CB Scott, TP McNaught, MC Wride, SP Reyna, ...
Annals of Neurology: Official Journal of the American Neurological …, 2005
5212005
Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study
D De Vivo, E Bertini, K Swoboda, WL Hwu, T Crawford, R Finkel, ...
Neuromuscular Disorders 29 (11), 2019
5082019
Definition and classification of hyperkinetic movements in childhood
TD Sanger, D Chen, DL Fehlings, M Hallett, AE Lang, JW Mink, HS Singer, ...
Movement Disorders 25 (11), 1538-1549, 2010
4842010
Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria
MK Bruno, M Hallett, K Gwinn-Hardy, B Sorensen, E Considine, S Tucker, ...
Neurology 63 (12), 2280-2287, 2004
4702004
Mutations in the skeletal muscle α-actin gene in patients with actin myopathy and nemaline myopathy
KJ Nowak, D Wattanasirichaigoon, HH Goebel, M Wilce, K Pelin, ...
Nature genetics 23 (2), 208-212, 1999
4611999
Assessment of interferon-related biomarkers in Aicardi-Goutieres syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study
GI Rice, GMA Forte, M Szynkiewicz, DS Chase, A Aeby, MS Abdel-Hamid, ...
The lancet neurology 12 (12), 1159-1169, 2013
4192013
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood
EL Heinzen, KJ Swoboda, Y Hitomi, F Gurrieri, S Nicole, B de Vries, ...
Nature genetics 44 (9), 1030-1034, 2012
4022012
Natural history of infantile‐onset spinal muscular atrophy
SJ Kolb, CS Coffey, JW Yankey, K Krosschell, WD Arnold, SB Rutkove, ...
Annals of neurology 82 (6), 883-891, 2017
3382017
Molecular and clinical genetics of mitochondrial diseases due to POLG mutations
LJC Wong, RK Naviaux, N Brunetti‐Pierri, Q Zhang, ES Schmitt, C Truong, ...
Human mutation 29 (9), E150-E172, 2008
3302008
A positive modifier of spinal muscular atrophy in the SMN2 gene
TW Prior, AR Krainer, Y Hua, KJ Swoboda, PC Snyder, SJ Bridgeman, ...
The American Journal of Human Genetics 85 (3), 408-413, 2009
3252009
The Children’s Hospital of Philadelphia infant test of neuromuscular disorders (CHOP INTEND): test development and reliability
AM Glanzman, E Mazzone, M Main, M Pelliccioni, J Wood, KJ Swoboda, ...
Neuromuscular Disorders 20 (3), 155-161, 2010
3202010
Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions
HY Lee, Y Huang, N Bruneau, P Roll, EDO Roberson, M Hermann, ...
Cell reports 1 (1), 2-12, 2012
2952012
Emerging therapies and challenges in spinal muscular atrophy
MA Farrar, SB Park, S Vucic, KA Carey, BJ Turner, TH Gillingwater, ...
Annals of neurology 81 (3), 355-368, 2017
2502017
LTBP4 genotype predicts age of ambulatory loss in duchenne muscular dystrophy
KM Flanigan, E Ceco, KM Lamar, Y Kaminoh, DM Dunn, JR Mendell, ...
Annals of neurology 73 (4), 481-488, 2013
2412013
Nusinersen in later-onset spinal muscular atrophy: long-term results from the phase 1/2 studies
BT Darras, CA Chiriboga, ST Iannaccone, KJ Swoboda, J Montes, ...
Neurology 92 (21), e2492-e2506, 2019
2362019
El sistema no puede realizar la operación en estos momentos. Inténtalo de nuevo más tarde.
Artículos 1–20