Results 31 to 40 of about 1,822 (274)

Histopathological Defects in Intestine in Severe Spinal Muscular Atrophy Mice Are Improved by Systemic Antisense Oligonucleotide Treatment [PDF]

, 2016
Acknowledgments This study is supported by the National Institute for Health Research Biomedical Research Centre at Great Ormond Street Hospital for Children NHS Foundation Trust and University College London (FM and HZ), the Medical Research Council ...
Angkathunkayul, Napat, Catapano, Francesco, Marrosu, Elena, Morgan, Jennifer E., Muntoni, Francesco, Parson, Simon H., Sintusek, Palittiya, Zhou, Haiyan   +7 more
core   +6 more sources

Self-oligomerization regulates stability of survival motor neuron protein isoforms by sequestering an SCF^Slmb degron [PDF]

, 2017
Spinal muscular atrophy (SMA) is caused by homozygous mutations in human SMN1. Expression of a duplicate gene (SMN2) primarily results in skipping of exon 7 and production of an unstable protein isoform, SMNΔ7.
A. Gregory Matera, Ackermann B, Ahmad S, Allison D. Ebert, Amanda C. Raimer, Angus I. Lamond, Ashlyn M. Spring, Bischof J, Bowerman M, Bowerman M, Burghes Arthur HM, Burnett BG, Cauchi RJ, Chan YB, Chang HC, Chang HCH, Charroux B, Chen PC, Cho S, Choudhury R, Christian L. Lorson, Coovert DD, Crawford TO, Custer SK, David Baillat, Dimitriadi M, Dominguez E, Ebert AD, Ebert AD, Eric J. Wagner, Fan L, Fischer U, Foust KD, Frescas D, Fuchs SY, Garcia EL, Garcia EL, Gates J, Genabai NK, Glascock JJ, Gregory D. Van Duyne, Groen EJN, Gupta K, Guruharsha KG, Han KJ, Hosseinibarkooie S, Hsieh-Li HM, Hsu SH, Ikeda F, Jacqueline J. Glascock, Jain AK, Jiang J, Jin J, Kariya S, Kelsey M. Gray, Kevin A. Kaifer, Khush RS, Kim EK, Kim TY, Kirkin V, Kolb SJ, Komander D, Kong L, Korhonen L, Kroiss M, Kushol Gupta, Kwon DY, Le TT, Lee YC, Lefebvre S, Lefebvre S, Li DK, Li XM, Lim KL, Liu C, Liu F, Liu M, Lorson CL, Lorson CL, Lorson CL, Makhortova NR, Marblestone JG, Martin R, Matera AG, McWhorter ML, Meister G, Michael J. Emanuele, Monani UR, Monani UR, Mukhopadhyay D, Murase S, Ning K, Ogino S, Ojeda L, Oprea GE, Oskoui M, O’Hearn PJ, Paquette N, Passini MA, Patton EE, Patton EE, Pearn J, Pellizzoni L, Petroski MD, Pillai RS, Praveen K, Praveen K, Prior TW, Rajendra TK, Ramser J, Rindt H, Rogers SL, Rossoll W, Sanchez G, Sara ten Have, Sareen D, Schmutzler RK, Shafey D, Sharma A, Svendsen CN, Tan JMM, Thomas R. Bonacci, Tiziano FD, Trinkle-Mulcahy L, Valori CF, van Wijk SJL, Voigt T, Walker MP, Wee CD, Wishart TM, Ye Y, Ying Wen, Yukiko Yamashita, Zhang L, Zheng N, Zhou R   +135 more
core   +3 more sources

An ∼140-kb Deletion Associated with Feline Spinal Muscular Atrophy Implies an Essential LIX1 Function for Motor Neuron Survival [PDF]

, 2006
The leading genetic cause of infant mortality is spinal muscular atrophy (SMA), a clinically and genetically heterogeneous group of disorders. Previously we described a domestic cat model of autosomal recessive, juvenile-onset SMA similar to human SMA ...
Agarwala, R., Brichta, Lars, Buzzell, Bethany G., David, Victor A., Drummond, Meghan C., Fyfe, John C., Gregory, Brittany L., Menotti-Raymond, Marilyn, Murphy, William J., O\u27Brien, Stephen J., Schaffer, Alejandro A., Wedemeyer, William J., Wirth, Brunhilde   +12 more
core   +3 more sources

UBA1/GARS-dependent pathways drive sensory-motor connectivity defects in spinal muscular atrophy [PDF]

, 2018
Deafferentation of motor neurons as a result of defective sensory-motor connectivity is a critical early event in the pathogenesis of spinal muscular atrophy, but the underlying molecular pathways remain unknown.
Boyd, Penelope J., Gillingwater, Thomas H., Groen, Ewout J. N., Lamont, Douglas J., Llavero Hurtado, Maica, Schiavo, Giampietro, Shorrock, Hannah K., Sleigh, James N., van der Hoorn, Dinja, Wirth, Brunhilde, Wishart, Thomas M.   +10 more
core   +3 more sources

Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy [PDF]

, 2023
BACKGROUND AND OBJECTIVES: Spinal muscular atrophy (SMA) is mainly caused by homozygous SMN1 gene deletions on 5q13. Non-5q SMA patients' series are lacking, and the diagnostic yield of next-generation sequencing (NGS) is largely unknown. The aim of this
Bedat-Millet, Anne-Laure, Behin, Anthony, Bouhour, Francoise, Chanson, Jean-Baptiste, Echaniz-Laguna, Andoni, Fernández-Eulate, Gorka, Latour, Philippe, Le Forestier, Nadine, Leonard-Louis, Sarah, Masingue, Marion, Michaud, Maud, Nadaj-Pakleza, Aleksandra, Pegat, Antoine, Poinsignon, Vianney, Querin, Giorgia, Record, Christopher J, Reilly, Mary M, Salort-Campana, Emmanuelle, Sole, Guilhem, Spinazzi, Marco, Stojkovic, Tanya, Tard, Celine, Theuriet, Julian   +22 more
core  

Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegias (HSP) are rare neurodegenerative disorders marked by spasticity and lower limb weakness. The most common type, SPG4, is usually autosomal dominant and caused by SPAST gene variants, typically presenting as pure HSP.
Gregorio A. Nolasco, Mònica Roldán, Yalda Jamshidi, Ioannis Georvasilis, Rocío Jadraque Rodríguez, Reza Boostani, Ali Shoeibi, Lluís Armengol, Anna Codina, Ehsan Ghayoor Karimiani, Cristina Hernando‐Davalillo, Loreto Martorell, María Luisa Ramírez Almaraz, Jordi Muchart, Carlos Ortez, Andrés Nascimento, Roser Urreizti, Daniel Natera‐de Benito, Mercedes Serrano   +18 more
wiley   +1 more source

Subtle mutations in the SMN1 gene in Chinese patients with SMA: p.Arg288Met mutation causing SMN1 transcript exclusion of exon7 [PDF]

, 2012
BACKGROUND: Proximal spinal muscular atrophy (SMA) is a common neuromuscular disorder resulting in death during childhood. Around 81 ~ 95% of SMA cases are a result of homozygous deletions of survival motor neuron gene 1 (SMN1) gene or gene conversions ...
Bai Jin-li, Du Juan, Jin Yu-wei, Li Er-zhen, Qu Yu-jin, Song Fang, Wang Hong   +6 more
core   +1 more source

Advancing Clinical Medicine with Raman Spectroscopy: Current Trends and Future Perspectives

Advanced Photonics Research, EarlyView.
Raman spectroscopy and microscopy may become excellent tools in clinical medicine, including hematology, oncology, infectious diseases, neurology, gastroenterology, reproductive medicine, rheumatology, and cardiovascular research. However, many challenges such as signal interference, standardization issues, and limited clinical application need to be ...
Jiří Bufka, Lenka Vaňková, Josef Sýkora, Věra Křížková, Jan Schwarz, Petr Bouř   +5 more
wiley   +1 more source

Treating Hearing Loss: From Cochlear Implantation to Gene Therapy

Advanced Science, EarlyView.
Cochlear implantation is the primary treatment for deafness, restoring functional hearing in over a million people. Recently, gene therapy has enabled biological hearing restoration in a small number of patients with OTOF‐related mutations. This perspective evaluates both approaches, concluding that cochlear implants will remain the standard for most ...
Fan‐Gang Zeng, Jieyu Qi, Chen‐Chi Wu, Yilai Shu, Renjie Chai   +4 more
wiley   +1 more source

Spinal Muscular Atrophy [PDF]

, 2011
Introdução: A Atrofia Muscular Espinhal (AME) é o nome dado a uma doença neuromuscular específica caracterizada pela degeneração dos neurónios motores medulares, condicionando atrofia e fraqueza muscular progressivas. É determinada pela alteração do gene
Francisco, R, Marreiros, H, Pires, M, Soudo, AP, Vieira, JP   +4 more
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