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Author Details

Kathryn J Swoboda
Center for Genomic Medicine, Massachusetts General Hospital
1994
164
58
Trey Ideker (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
36711797Base editing as a genetic treatment for spinal muscular atrophy.bioRxiv2023
37409780Continued benefit of nusinersen initiated in the presymptomatic stage of spinal muscular atrophy: 5-year update of the NURTURE study.Muscle Nerve2023
35063329Natural history of 10-meter walk/run test performance in spinal muscular atrophy: A longitudinal analysis.Neuromuscul Disord2022
35510740Muscle microRNAs in the cerebrospinal fluid predict clinical response to nusinersen therapy in type II and type III spinal muscular atrophy patients.Eur J Neurol2022
35567422An expanded access program of risdiplam for patients with Type 1 or 2 spinal muscular atrophy.Ann Clin Transl Neurol2022
35715567Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial.Nat Med2022
35715566Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial.Nat Med2022
35938011Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One).Front Genet2022
35977029De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders.Sci Adv2022
33201586Unusual inclusions in cerebrospinal fluid macrophages of spinal muscular atrophy patients treated with nusinersen.Int J Lab Hematol2021
33768131Adeno-associated virus serotype 9 antibodies in patients screened for treatment with onasemnogene abeparvovec.Mol Ther Methods Clin Dev2021
33504650Impaired prenatal motor axon development necessitates early therapeutic intervention in severe SMA.Sci Transl Med2021
34853799Implications of circulating neurofilaments for spinal muscular atrophy treatment early in life: A case series.Mol Ther Methods Clin Dev2021
33991176Increased systemic HSP70B levels in spinal muscular atrophy infants.Ann Clin Transl Neurol2021
34071063Massachusetts' Findings from Statewide Newborn Screening for Spinal Muscular Atrophy.Int J Neonatal Screen2021
34118107Cancer-induced muscle atrophy is determined by intrinsic muscle oxidative capacity.FASEB J2021
33415588Detection of SMN1 to SMN2 gene conversion events and partial SMN1 gene deletions using array digital PCR.Neurogenetics2021
32558393Whole-blood dysregulation of actin-cytoskeleton pathway in adult spinal muscular atrophy patients.Ann Clin Transl Neurol2020
31725909Outcome measures in a cohort of ambulatory adults with spinal muscular atrophy.Muscle Nerve2020
31882526Serum creatinine is a biomarker of progressive denervation in spinal muscular atrophy.Neurology2020
32947049A novel pathogenic variant in DYNC1H1 causes various upper and lower motor neuron anomalies.Eur J Med Genet2020
32333595Prospective Cohort Study of Nusinersen Treatment in Adults with Spinal Muscular Atrophy.J Neuromuscul Dis2020
32408015Exercise training reverses cancer-induced oxidative stress and decrease in muscle COPS2/TRIP15/ALIEN.Mol Metab2020
32348881Neuronal modeling of alternating hemiplegia of childhood reveals transcriptional compensation and replicates a trigger-induced phenotype.Neurobiol Dis2020
32569095Stander Use in Spinal Muscular Atrophy: Results From a Large Natural History Database.Pediatr Phys Ther2020
32511765Whole blood survival motor neuron protein levels correlate with severity of denervation in spinal muscular atrophy.Muscle Nerve2020
30842972Genotype-structure-phenotype relationships diverge in paralogs <i>ATP1A1</i>, <i>ATP1A2</i>, and <i>ATP1A3</i>.Neurol Genet2019
31704158Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study.Neuromuscul Disord2019
31589162Age-dependent SMN expression in disease-relevant tissue and implications for SMA treatment.J Clin Invest2019
31517062Impaired kidney structure and function in spinal muscular atrophy.Neurol Genet2019
30936307Prion protein quantification in human cerebrospinal fluid as a tool for prion disease drug development.Proc Natl Acad Sci U S A2019
31107518Maximizing the Benefit of Life-Saving Treatments for Pompe Disease, Spinal Muscular Atrophy, and Duchenne Muscular Dystrophy Through Newborn Screening: Essential Steps.JAMA Neurol2019
30788592Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype.Hum Genet2019
31168944Refining the phenotype of the THG1L (p.Val55Ala mutation)-related mitochondrial autosomal recessive congenital cerebellar ataxia.Am J Med Genet A2019
31048695Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.Nat Commun2019
31019106Nusinersen in later-onset spinal muscular atrophy: Long-term results from the phase 1/2 studies.Neurology2019
28833236Clinical trial of L-Carnitine and valproic acid in spinal muscular atrophy type I.Muscle Nerve2018
30046645Novel <i>PLP1</i> Mutations Identified With Next-Generation Sequencing Expand the Spectrum of PLP1-Associated Leukodystrophy Clinical Phenotypes.Child Neurol Open2018
30094386Recruitment &amp; retention program for the NeuroNEXT SMA Biomarker Study: Super Babies for SMA!Contemp Clin Trials Commun2018
30143562Harnessing the power of the patient perspective for rare disease therapeutics.Neurology2018
29922587<i>De novo ATP1A3</i> and compound heterozygous <i>NLRP3</i> mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndrome.Mol Genet Metab Rep2018
30397230CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.Nat Commun2018
29567111Direct evidence of impaired neuronal Na/K-ATPase pump function in alternating hemiplegia of childhood.Neurobiol Dis2018
28026041Emerging therapies and challenges in spinal muscular atrophy.Ann Neurol2017
28132687Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired Endocytosis.Am J Hum Genet2017
28102719Pregnancy and delivery in women with spinal muscular atrophy.Int J Neurosci2017
28293679Research conference summary from the 2014 International Task Force on <i>ATP1A3</i>-Related Disorders.Neurol Genet2017
28284873Establishing a reference dataset for the authentication of spinal muscular atrophy cell lines using STR profiling and digital PCR.Neuromuscul Disord2017
29149772Natural history of infantile-onset spinal muscular atrophy.Ann Neurol2017
29162675Management of Confirmed Newborn-Screened Patients With Pompe Disease Across the Disease Spectrum.Pediatrics2017
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Co-authored papers 17
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Co-authored papers 7
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Co-authored papers 7
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Houston Methodist Research Institute
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Deborah L Stabley
Co-authored papers 3
Alfred L George
Northwestern University Feinberg School of Medicine
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Joseph G Gleeson
University of California
Co-authored papers 3
Han G Brunner
Maastricht University Medical Centre
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Colin A Johnson
University of Leeds Leeds Institute of Medical Research at St James's
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Kevin A Strauss
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Gustavo Glusman
Institute for Systems Biology
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Jessica X Chong
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Release 1.2