Zobrazeno 1 - 10
of 44
pro vyhledávání: '"Christine J. DiDonato"'
Publikováno v:
Brain Sciences, Vol 11, Iss 2, p 194 (2021)
Until the recent development of disease-modifying therapeutics, spinal muscular atrophy (SMA) was considered a devastating neuromuscular disease with a poor prognosis for most affected individuals. Symptoms generally present during early childhood an
Externí odkaz:
https://doaj.org/article/be9d3013b22f4c5c97cab4b558a6a0c9
Publikováno v:
Case Reports in Neurological Medicine, Vol 2018 (2018)
Friedreich’s ataxia is a neurodegenerative disorder associated with a GAA trinucleotide repeat expansion in intron 1 of the frataxin (FXN) gene. It is the most common autosomal recessive cerebellar ataxia, with a mean age of onset at 16 years. Near
Externí odkaz:
https://doaj.org/article/5e005cf8665c4670b6118e4bc543ab5d
Autor:
Rocky G. Gogliotti, Cathleen Lutz, Michael Jorgensen, Kimberly Huebsch, Sookyong Koh, Christine J. DiDonato
Publikováno v:
Neurobiology of Disease, Vol 43, Iss 1, Pp 142-151 (2011)
The SMN2 transgenic mouse, Tg(SMN2)89Ahmb, has emerged as the most widely used in spinal muscular atrophy (SMA) research. Here we clone the genomic integration site of the transgene and demonstrate it to be in intron 4 of the metabotropic glutamate r
Externí odkaz:
https://doaj.org/article/7a9dbb37ae4f4c69aa649cf6ee696fc3
Autor:
Kristin J. Krosschell, Laurey Brown, Katie Hoffman, Katelyn B. Zumpf, Hannah Munson, Jessa Bidwell, Duncan P. Schulte, Abigail N. Schwaede, Amber N. Buehner, Christine J. DiDonato, Nancy L. Kuntz, Vamshi K. Rao
Publikováno v:
Journal of Neuromuscular Diseases. 10:337-348
Background: Ambulatory individuals with spinal muscular atrophy experience weakness and impairments of speed and endurance. This leads to decreased motor skill performance required for daily living including transitioning from floor to stand, climbin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::658b301aee7d9049dad381134d07a119
https://doi.org/10.3233/jnd-221519
https://doi.org/10.3233/jnd-221519
Autor:
Jonathan J Cherry, Christine J DiDonato, Elliot J Androphy, Alessandro Calo, Kyle Potter, Sara K Custer, Sarah Du, Timothy L Foley, Ariamala Gopalsamy, Emily J Reedich, Susana M Gordo, William Gordon, Natalie Hosea, Lyn H Jones, Daniel K Krizay, Gregory LaRosa, Hongxia Li, Sachin Mathur, Carol A Menard, Paraj Patel, Rebeca Ramos-Zayas, Anne Rietz, Haojing Rong, Baohong Zhang, Michael A Tones
Publikováno v:
PLoS ONE, Vol 12, Iss 9, p e0185079 (2017)
C5-substituted 2,4-diaminoquinazoline inhibitors of the decapping scavenger enzyme DcpS (DAQ-DcpSi) have been developed for the treatment of spinal muscular atrophy (SMA), which is caused by genetic deficiency in the Survival Motor Neuron (SMN) prote
Externí odkaz:
https://doaj.org/article/d509895517b840fca86c06c702f957d6
Autor:
Aravindhan Veerapandiyan, Vamshi K. Rao, Nancy L. Kuntz, Masahisa Katsuno, Amit Agarwal, Vikki Stefans, Kapil Arya, Yohei Harada, Christine J. DiDonato, Galia Napchan‐Pomerantz
Publikováno v:
Muscle & Nerve. 62:550-554
INTRODUCTION: Data on combining molecular therapies that increase survival motor neuron protein for spinal muscular atrophy type 1 (SMA1) is lacking. METHODS: This was a retrospective study describing our centers' experiences in treating SMA1 patient
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::973d0c9314bef76595de874671f00051
https://doi.org/10.1002/mus.27034
https://doi.org/10.1002/mus.27034
Autor:
W. D. Arnold, Clarissa Fantin Cavarsan, Alyssa Puritz, Charles J. Heckman, Christine J. DiDonato, E. J. Reedich, Katharina A. Quinlan
Publikováno v:
Journal of Neurophysiology. 122:1297-1311
Spinal motoneuron dysfunction and loss are pathological hallmarks of the neuromuscular disease spinal muscular atrophy (SMA). Changes in motoneuron physiological function precede cell death, but how these alterations vary with disease severity and mo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::05846ed55b635bc007847cd8ebad742a
https://doi.org/10.1152/jn.00652.2018
https://doi.org/10.1152/jn.00652.2018
Autor:
Jeffrey M Keil, Joonbae Seo, Matthew D Howell, Walter H Hsu, Ravindra N Singh, Christine J DiDonato
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 3, Iss C (2014)
Recent reports underscore the unparalleled potential of antisense-oligonucleotide (ASO)-based approaches to ameliorate various pathological conditions. However, in vivo studies validating the effectiveness of a short ASO (
Externí odkaz:
https://doaj.org/article/c995710c65c544b8a6b35fa237d6d163
Publikováno v:
American Journal of Speech-Language Pathology
Purpose The aim of this study was to provide clinicians with an overview of literature relating to dysphagia in spinal muscular atrophy (SMA) to guide assessment and treatment. Method In this clinical focus article, we review literature published in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::abb5ae04707fbe7431cd0a7165234f40
https://pubmed.ncbi.nlm.nih.gov/33822657
https://pubmed.ncbi.nlm.nih.gov/33822657
Publikováno v:
Scientific Data
Scientific Data, Vol 6, Iss 1, Pp 1-11 (2019)
Scientific Data, Vol 6, Iss 1, Pp 1-11 (2019)
A better understanding of the permittivity property of skeletal muscle is essential for the development of new diagnostic tools and approaches for neuromuscular evaluation. However, there remain important knowledge gaps in our understanding of this p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74975a14dc398ac281fe73f572a789a1
https://doi.org/10.1038/s41597-019-0045-2
https://doi.org/10.1038/s41597-019-0045-2