Results 111 to 120 of about 604,348 (394)

Myostatin inhibition in combination with antisense oligonucleotide therapy improves outcomes in spinal muscular atrophy

Journal of Cachexia, Sarcopenia and Muscle, 2020
Spinal muscular atrophy (SMA) is caused by genetic defects in the survival motor neuron 1 (SMN1) gene that lead to SMN deficiency. Different SMN‐restoring therapies substantially prolong survival and function in transgenic mice of SMA.
Haiyan Zhou, J. Meng, A. Malerba, F. Catapano, P. Sintusek, S. Jarmin, Lucy Feng, Ngoc B Lu-Nguyen, Lianwen Sun, V. Mariot, J. Dumonceaux, J. Morgan, P. Gissen, G. Dickson, F. Muntoni   +14 more
semanticscholar   +1 more source

SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas, Pablo Iruzubieta, Alberto Damborenea, Laura Pérez‐Fernández, Inmaculada Azorín, Juan Carlos Jiménez García, Ana Töpf, Pilar Martí, Lorena Fores‐Toribio, María Manterola, Rosana Blanco‐Mañez, Oihane Pikatza‐Menoio, Sonia Alonso‐Martín, Volker Straub, Aitziber L. Cortajarena, Adolfo López de Munain, David De Sancho, Lorea Blázquez, Juan J. Vilchez   +18 more
wiley   +1 more source

Functions and Therapeutic Potentials of Long Noncoding RNA in Skeletal Muscle Atrophy and Dystrophy

Journal of Cachexia, Sarcopenia and Muscle
Skeletal muscle is the most abundant tissue in the human body and is responsible for movement, metabolism, energy production and longevity. Muscle atrophy is a frequent complication of several diseases and occurs when protein degradation exceeds protein ...
Yidi Zhang, Teng Wang, Ziang Wang, Xin'e Shi, Jianjun Jin   +4 more
doaj   +1 more source

Nationwide Characterization of MFN2‐Related CMT in 176 Japanese Patients: Clinical and Genetic Insights

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Mitofusin 2 (MFN2) is a major causative gene for axonal Charcot – Marie – Tooth disease type 2A (CMT2A), with a wide phenotypic spectrum. Comprehensive large ‐ scale genotype – phenotype association studies are essential for understanding disease pathogenesis and improved clinical management.
Masahiro Ando, Yujiro Higuchi, Jun‐Hui Yuan, Akiko Yoshimura, Chikashi Yano, Takahiro Hobara, Fumikazu Kojima, Yu Hiramatsu, Satoshi Nozuma, Tomonori Nakamura, Yusuke Sakiyama, Jun Mitsui, Shoji Tsuji, Hiroshi Takashima   +13 more
wiley   +1 more source

Clinical and genetic characterisation of dystrophin-deficient muscular dystrophy in a family of Miniature Poodle dogs [PDF]

, 2018
Four full-sibling intact male Miniature Poodles were evaluated at 4–19 months of age. One was clinically normal and three were affected. All affected dogs were reluctant to exercise and had generalised muscle atrophy, a stiff gait and a markedly elevated
A Aartsma-Rus, A McKenna, Alberta de Stefani, Anita Shea, AP Monaco, AV Winnard, BA Valentine, BF Smith, BJ Cooper, C Le Guiner, C Pichavant, CA Collins, CA Jenkins, CA Wetterman, Carlos E. Ambrósio, CT Caskey, DE Cole, DJ VanBelzen, Elsa Beltrán, EM Hoogerwaard, EM Hoogerwaard, EP Hoffman, F Daoud, G Anil, G Bulfield, G. Diane Shelton, GD Shelton, GD Shelton, GD Shelton, GD Shelton, GL Walmsley, H Li, JA Goldstein, JL Carpenter, JN Kornegay, JN Kornegay, JR Mendell, JW McGreevy, K Bushby, K Nakamura, KJ Livak, KJ Nowak, Ling T. Guo, Lluís Sánchez, Louise M. Burmeister, LT Guo, Luisa De Risio, M Koenig, N Klymiuk, N Winand, NJ Olby, NJ Sharp, PP Nghiem, S Atencia-Fernandez, S Pouwels, S Rozen, SJ Schatzberg, SJ Schatzberg, T Larcher, U Francke, V Dubowitz, V Ricotti, W El Nemer, WI Baltzer   +63 more
core   +3 more sources

PROGRESSIVE MUSCULAR ATROPHY (?) [PDF]

The Journal of Nervous and Mental Disease, 1899
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openaire   +1 more source

3D In Vitro Models of Breast Cancer: Current Challenges and Future Prospects Toward Recapitulating the Microenvironment and Mimicking Key Processes

Advanced Biology, EarlyView.
In vitro cancer models are advantageous for studying important processes such as tumorigenesis, cancer growth, invasion, and metastasis. The complexity and biological relevance increase depending on the model structure, organization, and composition of materials and cells.
Kyndra S. Higgins, Ah Joung Yu, Cheryl T. Gomillion   +2 more
wiley   +1 more source

Rehabilitation in spinal muscular atrophy

The Journal of the International Society of Physical and Rehabilitation Medicine, 2019
Spinal muscular atrophy (SMA) is an autosomal recessive disorder with symptoms of progressive skeletal muscular atrophy which requires multidisciplinary medical care.
Agus Iwan Foead, Wendy Wai Yeng Yeo, Thirupathirao Vishnumukkala, Michael Larvin   +3 more
doaj   +1 more source

Diagnostic journey in Spinal Muscular Atrophy: Is it still an odyssey?

PLoS ONE, 2020
Background The advent of new therapies has increased the need to achieve early diagnosis in Spinal Muscular Atrophy (SMA). The aim of the present study was to define the age of diagnosis in the three main types of SMA with pediatric-onset and the timing ...
M. Pera, G. Coratti, B. Berti, A. D’Amico, M. Sframeli, Emilio Albamonte, R. de Sanctis, S. Messina, M. Catteruccia, G. Brigati, L. Antonaci, S. Lucibello, C. Bruno, V. Sansone, E. Bertini, D. Tiziano, M. Pane, E. Mercuri   +17 more
semanticscholar   +1 more source

Adipose Mesenchymal Stem Cell‐Derived Exosomes in Conjunction with Roflumilast Ameliorate Chronic Kidney Disease Through the Modulation of Fibrosis and Inflammation

Advanced Biology, EarlyView.
The novelty of this study showed that the injection of exosomes produced from ADMSCs in combination with Roflumilast poses a more favorable therapeutic outcome for CKD induced by Adriamycin, compared to therapy with exosomes or Roflumilast alone. Roflumilast and exosomes treatment lowered the expression of the apoptotic, fibrotic, and inflammatory ...
Mohamed Ali, Mohamed H. Sherif, Nashwa Barakat, Bassant Yahia, Ahmed A. Shokeir, Basel Sitohy   +5 more
wiley   +1 more source