Results 51 to 60 of about 127,703 (256)

Digital Cognitive Testing in Mitochondrial Disease: Validity and Challenges for Clinical Trial Use

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Primary mitochondrial disease is a group of genetic disorders caused by pathogenic variants in nuclear or mitochondrial DNA, often resulting in progressive neurodegeneration and cognitive decline. Current management is primarily supportive, though recent research offers hope for disease‐modifying treatments in the future.
Oksana Pogoryelova, Jan Smeitink, Herma Renkema, Rosabeth White, Frankie Barton, Rachel Lyon, Jane Newman, Aye Moe, Yi Shiau Ng, Grainne Siobhan Gorman   +9 more
wiley   +1 more source

Variable Myopathic Presentation in a Single Family with Novel Skeletal RYR1 Mutation [PDF]

, 2013
We describe an autosomal recessive heterogeneous congenital myopathy in a large consanguineous family. The disease is characterized by variable severity, progressive course in 3 of 4 patients, myopathic face without ophthalmoplegia and proximal muscle ...
Rokach, O., Ruben Attali, Nevo, Y., Talya Dor, Fellig, Y., Straussberg Rachel, Rachel Straussberg, Aharoni S, TREVES, Susan Nella, Daana, M., Fellig Yakov, Becker Cohen Michal, Mitrani-Rosenbaum Stella, Attali R, Attali Ruben, Yoram Nevo, Rokach O, Attali, R., Dor, T., Becker Cohen M, Susan Treves, Mitrani-Rosenbaum, S., Fellig Y, Aharoni, S., Mitrani Rosenbaum S, Treves, S., Dor T, Nevo Yoram, Aharoni Sharon, Straussberg, R., Michal Becker Cohen, Dor Talya, Straussberg R, Becker Cohen, M., Ori Rokach, Muhannad Daana, Nevo Y., Treves Susan, Daana Muhannad, Stella Mitrani-Rosenbaum, Rokach Ori, Yakov Fellig, Daana M, Sharon Aharoni   +43 more
core   +2 more sources

Clinical features and genotypes of Laing distal myopathy in a group of Chinese patients, with in-frame deletions of MYH7 as common mutations

Orphanet Journal of Rare Diseases, 2020
Background Laing distal myopathy is a rare autosomal dominant inherited distal myopathy caused by mutations of the MYH7 gene affecting mainly the rod region.
Meng Yu, Ying Zhu, Yuanyuan Lu, He Lv, Wei Zhang, Yun Yuan, Zhaoxia Wang   +6 more
doaj   +1 more source

Effect of wooden breast myopathy on water-holding capacity and rheological and gelling properties of chicken broiler breast batters

Poultry Science, 2020
The objective of this study was to evaluate the effects of wooden breast myopathy on water-holding, rheological, and gelling properties of chicken broiler breast batter. As to water-holding capacity, wooden breast myopathy significantly increased cooking
Yulong Zhang, Peng Wang, Xinglian Xu, Tianlan Xia, Zhen Li, Tianjiao Zhao   +5 more
doaj   +1 more source

Re‐Purposing Sapropterin (Kuvan) for ACTA2‐Related Multisystemic Smooth Muscle Dysfunction Syndrome: A Translational Mechanistic and First‐In‐Human Therapeutic Report

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an ultra‐rare, ACTA2‐related disorder characterized by severe cerebrovascular disease, aortic aneurysms, and smooth muscle dysfunction. Using molecular dynamics simulations and in silico drug screening, we identified that sapropterin dihydrochloride (Kuvan) is a candidate capable of ...
Moran Hausman‐Kedem, Noa Bielopolski, Vijai Krishnan, Shane Wald‐Altman, Shelly I Shrian, Omer Bar‐Yosef, Livia Kapusta, Claire Shamber, Patricia L. Musolino, Miguel Weil   +9 more
wiley   +1 more source

Four and a half LIM protein 1C (FHL1C) [PDF]

, 2011
Four-and-a-half LIM domain protein 1 isoform A (FHL1A) is predominantly expressed in skeletal and cardiac muscle. Mutations in the FHL1 gene are causative for several types of hereditary myopathies including X-linked myopathy with postural muscle atrophy
Quasthoff, Stefan, Schreibmayer, Wolfgang, Schoser, Benedikt, Wagner, Klaus, Windpassinger, Christian, Poparic, Ivana, Hochmeister, Sonja, Binder, Josepha, Gorischek, Astrid, Malle, Ernst, Desoye, Gernot, Miedl, Heidi   +11 more
core   +1 more source

FAD synthase deficiency: a severe mitochondrial myopathy involving a secondary reduction of RFVT2 expression

, 2022
The redox cofactor FAD is essential for mitochondrial functionality: in the inner- membrane it ensures the activity of the respiratory chain complex II and of the ETF/ETFQO system, in the matrix the oxidation of pyruvate and other α-oxoacids as well ...
Angela M.S. Lezza, Lezza, Angela M. S., Nisco, Alessia, Rikke K. Olsen, Barbaro, Roberto, Piero Leone, Lanza, Martina, Matilde Colella, Colella, Matilde, Tiziana Latronico, Liuzzi, Grazia M., Guglielmina Chimenti, Alessia Nisco, Olsen, Rikke K., Roberto Barbaro, Barile, Maria, Maria Tolomeo, Chimienti, Guglielmina, Grazia M. Liuzzi, Giuseppe Petrosillo, Maria Barile, Martina Lanza, Tolomeo, Maria, Latronico, Tiziana, Leone, Piero, Petrosillo, Giuseppe   +25 more
core   +1 more source

SEQUENCE VARIANTS IN THE RYR1 GENE AND GENETIC DISEASES: MALIGNANT HYPERTHERMIA AND CONGENITAL MYOPATHIES [PDF]

, 2009
This PhD thesis has been focused on the identification and functional characterization of sequence variants in the RYR1 gene, associated with Malignant hyperthermia (MH) and some congenital myopathies (CMs).
Perrotta, Giuseppa
core   +1 more source

Genetic analysis of limb girdle muscular dystrophy and Miyoshi myopathy [PDF]

, 2003
The autosomal recessive muscular dystrophies encompass limb girdle muscular dystrophy (LGMD) and Miyoshi myopathy (MM), which can show clinical and genetic overlap.
Summerill, Gillian
core  

A Nemaline Myopathy Presenting with Perinatal Asphyxia

, 2015
Nemaline myopathy is a rare hereditary neuromuscular disease characterized by variable degree of non-progressive or slowly progressive generalized muscle weakness. Clinical features are mostly related with muscle weakness and hypotonia.
Nisa Eda Çullas İlarslan, Nihan Hilal Hoșağası, Engin Demir, Nurullah Okumuș, Dilek Dilli, Beril Talim, Ayșe Aksoy, Ayșegül Zenciroğlu   +7 more
core   +1 more source