Results 51 to 60 of about 9,766,746 (345)

Aberrant Autophagic Response in The Muscle of A Knock-in Mouse Model of Spinal and Bulbar Muscular Atrophy [PDF]

, 2015
Spinal and bulbar muscular atrophy (SBMA) is characterized by loss of motoneurons and sensory neurons, accompanied by atrophy of muscle cells. SBMA is due to an androgen receptor containing a polyglutamine tract (ARpolyQ) that misfolds and aggregates ...
Aggarwal, Tanya, Cicardi, Maria Elena, Crippa, Valeria, Cristofani, Riccardo, Galbiati, Mariarita, Giorgetti, Elisa, Lieberman, Andrew P., Meroni, Marco, Messi, Elio, Milioto, Carmelo, Pennuto, Maria, Piccolella, Margherita, Polanco, Maria Josefa, Poletti, Angelo, Rocchi, Anna, Rusmini, Paola   +15 more
core   +2 more sources

Affinity proteomics within rare diseases: a BIO-NMD study for blood biomarkers of muscular dystrophies

EMBO Molecular Medicine, 2014
Despite the recent progress in the broad‐scaled analysis of proteins in body fluids, there is still a lack in protein profiling approaches for biomarkers of rare diseases.
B. Ayoglu, A. Chaouch, Hanns Lochmüller, L. Politano, E. Bertini, P. Spitali, M. Hiller, E. H. Niks, F. Gualandi, F. Pontén, K. Bushby, A. Aartsma-Rus, E. Schwartz, Y. Le Priol, V. Straub, M. Uhlén, S. Çırak, P. ’. ’t Hoen, F. Muntoni, A. Ferlini, J. Schwenk, P. Nilsson, C. Al-Khalili Szigyarto   +22 more
semanticscholar   +1 more source

Simple and efficient differentiation of human iPSCs into contractible skeletal muscles for muscular disease modeling

bioRxiv, 2021
Pathophysiological analysis and drug discovery targeting human diseases require disease models that suitably recapitulate patient pathology. Disease-specific human induced pluripotent stem cells (hiPSCs) differentiated into affected cell types can ...
Muhammad Irfanur Rashid, Takuji Ito, D. Shimojo, Kana Arimoto, Kazunari Onodera, Rina Okada, Takunori Nagashima, Kazuki Yamamoto, Z. Khatun, H. Okano, H. Sakurai, K. Shimizu, M. Doyu, Y. Okada   +13 more
semanticscholar   +1 more source

The use of umbilical cord‐derived mesenchymal stem cells in patients with muscular dystrophies: Results from compassionate use in real‐life settings

Stem Cells Translational Medicine, 2021
Muscular dystrophies are genetically determined progressive diseases with no cause‐related treatment and limited supportive treatment. Although stem cells cannot resolve the underlying genetic conditions, their wide‐ranging therapeutic properties may ...
Beata Świątkowska‐Flis, Izabela Zdolińska‐Malinowska, Dominika Sługocka, Dariusz Boruczkowski   +3 more
doaj   +1 more source

Unimpaired Neuropsychological Performance and Enhanced Memory Recall in Patients with Sbma: A Large Sample Comparative Study. [PDF]

, 2018
Peculiar cognitive profile of patients with SBMA has been described by fragmented literature. Our retrospective study reports the neuropsychological evaluations of a large cohort of patients in order to contribute towards the understanding of this field.
A. (2018).,, Bertolin, C., Cipolletta, S., Kleinbub, J. R., Marcato, S., Martinelli, I., Palmieri, Arianna, Pegoraro, E, Pick, E., Querin, G., Sorar\uf9, G.   +10 more
core   +1 more source

An autopsy study of a familial oculopharyngeal muscular dystrophy (OPMD) with distal spread and neurogenic involvement [PDF]

, 1981
An 81-year-old man from a family with a history of oculopharyngeal muscular dystrophy (OPMD) involving 6 members over 4 generations is described. The patient first noted drooping of his eyelids at the age of 65.
Aarli, Adams, Amyot, Barbeau, Bosch, Bray, Campanella, Cohen, Cox, Coërs, Croft, Direkze, Dutil, Fried, Fuchs, Goto, Graef von, Graf, Hartmann, Hayes, Julien, Kearns, Kiloh, Krause, Lakin, Lees, Lewis, Liversedge, Lundberg, Man, Maningand, Mater, Matsunaga, Murphy, Myrianthopoulos, Nicolaissen, Peterman, Radu, Rebeiz, Roberts, Satoyoshi, Saucier, Schmitt, Schmitt, Schotland, Schwarz, Szobar, Taylor, Victor, Zellweger   +49 more
core   +1 more source

Prevalence, incidence and carrier frequency of 5q–linked spinal muscular atrophy – a literature review

Orphanet Journal of Rare Diseases, 2017
Spinal muscular atrophy linked to chromosome 5q (SMA) is a recessive, progressive, neuromuscular disorder caused by bi-allelic mutations in the SMN1 gene, resulting in motor neuron degeneration and variable presentation in relation to onset and severity.
I. Verhaart, A. Robertson, I. Wilson, A. Aartsma-Rus, S. Cameron, Cynthia C. Jones, Suzanne F. Cook, Hanns Lochmüller   +7 more
semanticscholar   +1 more source

Functional rescue of dystrophin deficiency in mice caused by frameshift mutations using Campylobacter jejuni Cas9 [PDF]

, 2018
Duchenne muscular dystrophy (DMD) is a fatal, X-linked muscle wasting disease caused by mutations in the DMD gene. In 51% of DMD cases, a reading frame is disrupted because of deletion of several exons.
Cappellari, O, Cho, H-Y, Dickson, G, Kim, D, Kim, E, Kim, J-S, Koo, T, Lu-Nguyen, N B, Malerba, A, Popplewell, L   +9 more
core   +2 more sources

Three Cases of Spinocerebellar Ataxia Type 2 (SCA2) and Pediatric Literature Review: Do Not Forget Trinucleotide Repeat Disorders in Childhood-Onset Progressive Ataxia

Brain Sciences
Background: Childhood-onset progressive ataxias are rare neurodegenerative disorders characterized by cerebellar signs, sometimes associated with other neurological or extra-neurological features.
Jacopo Sartorelli, Maria Grazia Pomponi, Giacomo Garone, Gessica Vasco, Francesca Cumbo, Vito Luigi Colona, Adele D’Amico, Enrico Bertini, Francesco Nicita   +8 more
doaj   +1 more source

Ion channels: structural basis for function and disease. [PDF]

, 1996
Ion channels are ubiquitous proteins that mediate nervous and muscular function, rapid transmembrane signaling events, and ionic and fluid balance. The cloning of genes encoding ion channels has led to major strides in understanding the mechanistic basis
Goldstein, SA
core   +1 more source