Swoboda, Kathryn J: search on Z-Library

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1

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Blok, Lot Snijders, Rousseau, Justine, Twist, Joanna, Ehresmann, Sophie, Takaku, Motoki, Venselaar, Hanka, Rodan, Lance H., Nowak, Catherine B., Douglas, Jessica, Swoboda, Kathryn J., Steeves, Marcie

Journal:

Nature Communications

Year:

2019

Language:

english

File:

PDF, 492 KB

english, 2019

2

Mutilating hand syndrome in an infant with familial carpal tunnel syndrome

Kathryn J. Swoboda, Elizabeth C. Engle, Benjamin Scheindlin, Douglas C. Anthony, H. Royden Jones

Journal:

Year:

1998

Language:

english

File:

PDF, 236 KB

english, 1998

3

014âAVXS-101 gene-replacement therapy (GRT) in presymptomatic spinal muscular atrophy (SMA): study update

Farrar, Michelle, Swoboda, Kathryn J, Schultz, Meredith, McMillan, Hugh, Parsons, Julie, Alexander, Ian E, Kernbauer, Elaine, Farrow, Marcia, Ogrinc, Francis G, Feltner, Douglas E, McGill, Bryan E, Sp

Journal:

Journal of Neurology Neurosurgery & Psychiatry

Year:

2019

File:

PDF, 69 KB

2019

4

Reliability of the modified hammersmith functional motor scale in young children with spinal muscular atrophy

Kristin J. Krosschell, Charles B. Scott, Jo Anne Maczulski, Aga J. Lewelt, Sandra P. Reyna, Kathryn J. Swoboda, for Project Cure SMA

Journal:

Year:

2011

Language:

english

File:

PDF, 126 KB

english, 2011

5

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Snijders Blok, Lot, Rousseau, Justine, Twist, Joanna, Ehresmann, Sophie, Takaku, Motoki, Venselaar, Hanka, Rodan, Lance H., Nowak, Catherine B., Douglas, Jessica, Swoboda, Kathryn J., Steeves, Marcie

Journal:

Nature Communications

Year:

2018

Language:

english

File:

PDF, 1.65 MB

english, 2018

6

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

Heinzen, Erin L, Swoboda, Kathryn J, Hitomi, Yuki, Gurrieri, Fiorella, Nicole, Sophie, de Vries, Boukje, Tiziano, F Danilo, Fontaine, Bertrand, Walley, Nicole M, Heavin, Sinéad, Panagiotakaki, Eleni,

Journal:

Nature Genetics

Year:

2012

Language:

english

File:

PDF, 514 KB

english, 2012

7

Motor unit number estimation in infants and children with spinal muscular atrophy

Mark B. Bromberg, Kathryn J. Swoboda

Journal:

Year:

2002

Language:

english

File:

PDF, 148 KB

english, 2002

8

Rasch analysis of clinical outcome measures in spinal muscular atrophy

Cano, Stefan J., Mayhew, Anna, Glanzman, Allan M., Krosschell, Kristin J., Swoboda, Kathryn J., Main, Marion, Steffensen, Birgit F., Bérard, Carole, Girardot, Françoise, Payan, Christine A.M., Mercuri

Journal:

Year:

2014

Language:

english

File:

PDF, 683 KB

english, 2014

9

Subacute combined degeneration of the spinal cord in cblC disorder despite treatment with B12

Sharon E. Smith, Hannah C. Kinney, Kathryn J. Swoboda, Harvey L. Levy

Journal:

Molecular Genetics and Metabolism

Year:

2006

Language:

english

File:

PDF, 538 KB

english, 2006

10

A novel germline PIGA mutation in Ferro-Cerebro-Cutaneous syndrome: A neurodegenerative X-linked epileptic encephalopathy with systemic iron-overload

Swoboda, Kathryn J., Margraf, Rebecca L., Carey, John C., Zhou, Holly, Newcomb, Tara M., Coonrod, Emily, Durtschi, Jacob, Mallempati, Kalyan, Kumanovics, Attila, Katz, Ben E., Voelkerding, Karl V., Op

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 2.55 MB

english, 2014

11

The Expanding Spectrum of Neurological Phenotypes in Children With ATP1A3 Mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and Beyond

Sweney, Matthew T., Newcomb, Tara M., Swoboda, Kathryn J.

Journal:

Pediatric Neurology

Year:

2015

Language:

english

File:

PDF, 292 KB

english, 2015

12

Position of Glycine Substitutions in the Triple Helix of COL6A1 , COL6A2 , and COL6A3 is Correlated with Severity and Mode of Inheritance in Collagen VI Myopathies

Butterfield, Russell J., Foley, A. Reghan, Dastgir, Jahannaz, Asman, Stephanie, Dunn, Diane M., Zou, Yaqun, Hu, Ying, Donkervoort, Sandra, Flanigan, Kevin M., Swoboda, Kathryn J., Winder, Thomas L., W

Journal:

Year:

2013

Language:

english

File:

PDF, 708 KB

english, 2013

13

Candidate Proteins, Metabolites and Transcripts in the Biomarkers for Spinal Muscular Atrophy (BforSMA) Clinical Study

Finkel, Richard S., Crawford, Thomas O., Swoboda, Kathryn J., Kaufmann, Petra, Juhasz, Peter, Li, Xiaohong, Guo, Yu, Li, Rebecca H., Trachtenberg, Felicia, Forrest, Suzanne J., Kobayashi, Dione T., Ch

Journal:

Year:

2012

Language:

english

File:

PDF, 471 KB

english, 2012

14

Serum creatinine is a biomarker of progressive denervation in spinal muscular atrophy

Alves, Christiano R.R., Zhang, Ren, Johnstone, Alec J., Garner, Reid, Nwe, Pann H., Siranosian, Jennifer J., Swoboda, Kathryn J.

Journal:

Year:

2020

File:

PDF, 4.59 MB

2020

15

Human dermal fibroblasts derived from oculodentodigital dysplasia patients suggest that patients may have wound-healing defects

Jared M. Churko, Qing Shao, Xiang-qun Gong, Kathryn J. Swoboda, Donglin Bai, Jacinda Sampson, Dale W. Laird

Journal:

Year:

2011

Language:

english

File:

PDF, 585 KB

english, 2011

16

Romancing the Spliceosome to Fight Spinal Muscular Atrophy

Phimister, Elizabeth G., Swoboda, Kathryn J.

Journal:

New England Journal of Medicine

Year:

2014

Language:

english

File:

PDF, 406 KB

english, 2014

17

SMN1 and SMN2 copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCR

Stabley, Deborah L., Harris, Ashlee W., Holbrook, Jennifer, Chubbs, Nicholas J., Lozo, Kevin W., Crawford, Thomas O., Swoboda, Kathryn J., Funanage, Vicky L., Wang, Wenlan, Mackenzie, William, Scavina

Journal:

Molecular Genetics & Genomic Medicine

Year:

2015

Language:

english

File:

PDF, 344 KB

english, 2015

18

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, Pe

Journal:

The American Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 3.18 MB

english, 2017

19

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, Richar

Journal:

Annals of Neurology

Year:

2017

Language:

english

File:

PDF, 924 KB

english, 2017

20

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Snijders Blok, Lot, Rousseau, Justine, Twist, Joanna, Ehresmann, Sophie, Takaku, Motoki, Venselaar, Hanka, Rodan, Lance H., Nowak, Catherine B., Douglas, Jessica, Swoboda, Kathryn J., Steeves, Marcie

Journal:

Nature Communications

Year:

2019

Language:

english

File:

PDF, 466 KB

english, 2019

21

Prospective Cohort Study of Nusinersen Treatment in Adults with Spinal Muscular Atrophy

Yeo, Crystal Jing Jing, Simeone, Sarah D., Townsend, Elise L., Zhang, Ren Zhe, Swoboda, Kathryn J.

Journal:

Journal of Neuromuscular Diseases

Year:

2020

File:

PDF, 355 KB

2020

22

Escaping the Nuclear Confines: Signal-Dependent Pre-mRNA Splicing in Anucleate Platelets

Melvin M. Denis, Neal D. Tolley, Michaeline Bunting, Hansjörg Schwertz, Huimiao Jiang, Stephan Lindemann, Christian C. Yost, Frederick J. Rubner, Kurt H. Albertine, Kathryn J. Swoboda, Carolyn M. Frat

Journal:

Year:

2005

Language:

english

File:

PDF, 835 KB

english, 2005

23

Population Pharmacokinetics of Valproic Acid in Pediatric Patients With Epilepsy: Considerations for Dosing Spinal Muscular Atrophy Patients

Williams, Jason H., Jayaraman, Bhuvaneswari, Swoboda, Kathryn J., Barrett, Jeffrey S.

Journal:

Journal of Clinical Pharmacology

Year:

2012

Language:

english

File:

PDF, 826 KB

english, 2012

24

A novel form of juvenile recessive ALS maps to loci on 6p25 and 21q22

Russell J. Butterfield, Deepa Ramachandran, Sandra J. Hasstedt, Brith E. Otterud, Mark F. Leppert, Kathryn J. Swoboda, Kevin M. Flanigan

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 641 KB

english, 2009

25

Disclosure of Genetic Research Results to Members of a Founder Population

Anderson, Rebecca L., Murray, Kathleen, Chong, Jessica X., Ouwenga, Rebecca, Antillon, Marina, Chen, Peixian, Diaz de Leon, Lorena, Swoboda, Kathryn J., Lester, Lucille A., Das, Soma, Ober, Carole, Wa

Journal:

Journal of Genetic Counseling

Year:

2014

Language:

english

File:

PDF, 403 KB

english, 2014

26

[Supplements to Clinical Neurophysiology] Motor Unit Number Estimation (MUNE): Proceedings of the First International Symposium on MUNE Volume 55 || MUNE in spinal muscular atrophy

Swoboda, Kathryn J.

Year:

2003

Language:

english

File:

PDF, 101 KB

english, 2003

27

Prion protein quantification in human cerebrospinal fluid as a tool for prion disease drug development

Vallabh, Sonia M., Nobuhara, Chloe K., Llorens, Franc, Zerr, Inga, Parchi, Piero, Capellari, Sabina, Kuhn, Eric, Klickstein, Jacob, Safar, Jiri G., Nery, Flavia C., Swoboda, Kathryn J., Geschwind, Mic

Journal:

Proceedings of the National Academy of Sciences

Year:

2019

Language:

english

File:

PDF, 710 KB

english, 2019

28

Inherited disorders of amine biosynthesis

Swoboda, Kathryn J

Journal:

Future Neurology

Year:

2006

Language:

english

File:

PDF, 139 KB

english, 2006

29

Harnessing the power of the patient perspective for rare disease therapeutics

Swoboda, Kathryn J., Nery, Flavia C.

Journal:

Year:

2018

Language:

english

File:

PDF, 123 KB

english, 2018

30

Neuronal modeling of alternating hemiplegia of childhood reveals transcriptional compensation and replicates a trigger-induced phenotype

Snow, John P., Westlake, Grant, Klofas, Lindsay K., Jeon, Soyoun, Armstrong, Laura C., Swoboda, Kathryn J., George, Alfred L., Ess, Kevin C.

Journal:

Neurobiology of Disease

Year:

2020

File:

PDF, 1.44 MB

2020

31

Seize the day: Newborn screening for SMA

Kathryn J. Swoboda

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 62 KB

english, 2010

32

Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene

Kevin M. Flanigan, Diane M. Dunn, Andrew von Niederhausern, Payam Soltanzadeh, Michael T. Howard, Jacinda B. Sampson, Kathryn J. Swoboda, Mark B. Bromberg, Jerry R. Mendell, Laura E. Taylor, Christine

Journal:

Year:

2011

Language:

english

File:

PDF, 240 KB

english, 2011

33

Glucose metabolism and pancreatic defects in spinal muscular atrophy

Melissa Bowerman, Kathryn J. Swoboda, John-Paul Michalski, Gen-Sheng Wang, Courtney Reeks, Ariane Beauvais, Kelley Murphy, John Woulfe, Robert A. Screaton, Fraser W. Scott, Rashmi Kothary

Journal:

Annals of Neurology

Year:

2012

Language:

english

File:

PDF, 1.21 MB

english, 2012

34

Clinical and genetic characterization of manifesting carriers of DMD mutations

Payam Soltanzadeh, Michael J. Friez, Diane Dunn, Andrew von Niederhausern, Olga L. Gurvich, Kathryn J. Swoboda, Jacinda B. Sampson, Alan Pestronk, Anne M. Connolly, Julaine M. Florence, Richard S. Fin

Journal:

Neuromuscular Disorders

Year:

2010

Language:

english

File:

PDF, 337 KB

english, 2010

35

Infantile phosphofructokinase deficiency with arthrogryposis: Clinical benefit of a ketogenic diet

Kathryn J. Swoboda, Linda Specht, H.Royden Jones, Frederic Shapiro, Salvatore DiMauro, Mark Korson

Journal:

The Journal of Pediatrics

Year:

1997

Language:

english

File:

PDF, 906 KB

english, 1997

36

Spinal Muscular Atrophy Biomarker Measurements from Blood Samples in a Clinical Trial of Valproic Acid in Ambulatory Adults

Renusch, Samantha R., Harshman, Sean, Pi, Hongyang, Workman, Eileen, Wehr, Allison, Li, Xiaobai, Prior, Thomas W., Elsheikh, Bakri H., Swoboda, Kathryn J., Simard, Louise R., Kissel, John T., Battle,

Journal:

Journal of Neuromuscular Diseases

Year:

2015

Language:

english

File:

PDF, 572 KB

english, 2015

37

Responses to Fasting and Glucose Loading in a Cohort of Well Children with Spinal Muscular Atrophy Type II

Davis, Rebecca Hurst, Miller, Elizabeth A., Zhang, Ren Zhe, Swoboda, Kathryn J.

Journal:

The Journal of Pediatrics

Year:

2015

Language:

english

File:

PDF, 529 KB

english, 2015

38

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Snijders Blok, Lot, Rousseau, Justine, Twist, Joanna, Ehresmann, Sophie, Takaku, Motoki, Venselaar, Hanka, Rodan, Lance H., Nowak, Catherine B., Douglas, Jessica, Swoboda, Kathryn J., Steeves, Marcie

Journal:

Nature Communications

Year:

2019

File:

PDF, 466 KB

2019

39

Bone loss in survival motor neuron (Smn−/−SMN2) genetic mouse model of spinal muscular atrophy

Srinivasan Shanmugarajan, Eichi Tsuruga, Kathryn J Swoboda, Bernard L Maria, William L Ries, Sakamuri V Reddy

Journal:

The Journal of Pathology

Year:

2009

Language:

english

File:

PDF, 459 KB

english, 2009

40

Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy

Carina Wallgren-Pettersson, Katarina Pelin, Pirta Hilpelä, Kati Donner, Berardino Porfirio, Claudio Graziano, Kathryn J. Swoboda, Michel Fardeau, J.Andoni Urtizberea, Francesco Muntoni, Caroline Sewry

Journal:

Neuromuscular Disorders

Year:

1999

Language:

english

File:

PDF, 286 KB

english, 1999

41

Observational study of caloric and nutrient intake, bone density, and body composition in infants and children with spinal muscular atrophy type I

Poruk, Katherine E., Davis, Rebecca Hurst, Smart, Abby L., Chisum, Benjamin S., LaSalle, Bernie A., Chan, Gary M., Gill, Gurmail, Reyna, Sandra P., Swoboda, Kathryn J.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 280 KB

english, 2012

42

Diagnosis and treatment of neurotransmitter-related disorders

Swoboda, Kathryn J., Hyland, Keith

Journal:

Neurologic Clinics

Year:

2002

Language:

english

File:

PDF, 143 KB

english, 2002

43

Developing Multidisciplinary Clinics for Neuromuscular Care and Research

Paganoni, Sabrina, Nicholson, Katie, Leigh, Fawn, Swoboda, Kathryn, Chad, David, Drake, Kristin, Haley, Kellen, Cudkowicz, Merit, Berry, James D.

Journal:

Year:

2017

Language:

english

File:

PDF, 937 KB

english, 2017

44

Counting motor units in chronic motor neuropathies

Mark B Bromberg, Kathryn J Swoboda, Victoria H Lawson

Journal:

Experimental Neurology

Year:

2003

Language:

english

File:

PDF, 201 KB

english, 2003

45

Walker-Warburg Syndrome with POMT1 mutations can be associated with cleft lip and cleft palate

Jiri Vajsar, Berivan Baskin, Kathryn Swoboda, Doug W. Biggar, Harry Schachter, Peter N. Ray

Journal:

Neuromuscular Disorders

Year:

2008

Language:

english

File:

PDF, 195 KB

english, 2008

46

Emerging therapies and challenges in spinal muscular atrophy

Farrar, Michelle A., Park, Susanna B., Vucic, Steve, Carey, Kate A., Turner, Bradley J., Gillingwater, Thomas H., Swoboda, Kathryn J., Kiernan, Matthew C.

Journal:

Annals of Neurology

Year:

2017

Language:

english

File:

PDF, 1.44 MB

english, 2017

47

New Therapeutic Approaches to Spinal Muscular Atrophy

Aga Lewelt, Tara M. Newcomb, Kathryn J. Swoboda

Journal:

Current Neurology and Neuroscience Reports

Year:

2012

Language:

english

File:

PDF, 269 KB

english, 2012

48

Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene

Belén Bornstein, Estela Area, Kevin M. Flanigan, Jaya Ganesh, Parul Jayakar, Kathryn J. Swoboda, Jorida Coku, Ali Naini, Sara Shanske, Kurenai Tanji, Michio Hirano, Salvatore DiMauro

Journal:

Neuromuscular Disorders

Year:

2008

Language:

english

File:

PDF, 1.24 MB

english, 2008

49

NALCN channelopathies

Bend, Eric G., Si, Yue, Stevenson, David A., Bayrak-Toydemir, Pinar, Newcomb, Tara M., Jorgensen, Erik M., Swoboda, Kathryn J.

Journal:

Year:

2016

Language:

english

File:

PDF, 3.34 MB

english, 2016

50

Maximizing the Benefit of Life-Saving Treatments for Pompe Disease, Spinal Muscular Atrophy, and Duchenne Muscular Dystrophy Through Newborn Screening

Baker, Mei, Griggs, Robert, Byrne, Barry, Connolly, Anne M., Finkel, Richard, Grajkowska, Lucja, Haidet-Phillips, Amanda, Hagerty, Laura, Ostrander, Robert, Orlando, Lianna, Swoboda, Kathryn, Watson,

Journal:

Year:

2019

Language:

english

File:

PDF, 191 KB

english, 2019

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