Littoral Environnement et Sociétés (LIENSs), UMR 7266, CNRS-Université de La Rochelle, 2 Rue Olympe de Gouges, 17042, La Rochelle Cedex 01, France. tamas.malkocs@gmail.com.
Pál Juhász-Nagy Doctoral School of Biology and Environmental Sciences, University of Debrecen, Egyetem tér 1, 4032, Debrecen, Hungary. tamas.malkocs@gmail.com.
Institute of Biology and Ecology, University of Debrecen, Egyetem tér 1, 4032, Debrecen, Hungary. tamas.malkocs@gmail.com.
Institute of Aquatic Ecology, Centre for Ecological Research, 4026, Debrecen, Hungary. tamas.malkocs@gmail.com.
Ctedra Diversidad Animal I and Laboratorio de Virologa y Gentica Molecular; Facultad de Ciencias Naturales y Ciencias de la Salud; Universidad Nacional de la Patagonia San Juan Bosco; 9 de Julio y Belgrano s/n; 9100 Trelew; Chubut; ARGENTINA. jgloreley@gmail.com.
Museo Argentino de Ciencias Naturales Bernardino Rivadavia; Av. ngel Gallardo 470; C1405DJR Ciudad Autnoma de Buenos Aires; ARGENTINA. gpastorino@macn.gov.ar.
Department of Evolution, Ecology, and Organismal Biology, Iowa State University, 2200 Osborn Dr, 251 Bessey Hall, Ames, IA 50011, USA. Electronic address: gsmedley@iastate.edu.
Department of Zoology, University of São Paulo, Rua do Matão, Travessa 14, n. 101, 05508-090 São Paulo, SP, Brazil. Electronic address: jorgeaudino@ib.usp.br.
Department of Evolution, Ecology, and Organismal Biology, Iowa State University, 2200 Osborn Dr, 251 Bessey Hall, Ames, IA 50011, USA. Electronic address: courtney.grula@ndsu.edu.
Department of Evolution, Ecology, and Organismal Biology, Iowa State University, 2200 Osborn Dr, 251 Bessey Hall, Ames, IA 50011, USA. Electronic address: aporathk@umn.edu.
Department of Evolution, Ecology, and Organismal Biology, Iowa State University, 2200 Osborn Dr, 251 Bessey Hall, Ames, IA 50011, USA. Electronic address: apairett@iastate.edu.
Department of Evolution, Ecology, and Organismal Biology, Iowa State University, 2200 Osborn Dr, 251 Bessey Hall, Ames, IA 50011, USA. Electronic address: aalejand@whittier.edu.
Faculty of Science, Health, Education, and Engineering, University of the Sunshine Coast, Maroochydore DC, Queensland 4558, Australia. Electronic address: felicity.masters@research.usc.edu.au.
Faculty of Science, Health, Education, and Engineering, University of the Sunshine Coast, Maroochydore DC, Queensland 4558, Australia. Electronic address: pduncan@usc.edu.au.
Department of Invertebrate Zoology, National Museum of National History, Smithsonian Institution, 10th and Constitution Ave NW, Washington, DC 20560, USA. Electronic address: StrongE@si.edu.
Department of Evolution, Ecology, and Organismal Biology, Iowa State University, 2200 Osborn Dr, 251 Bessey Hall, Ames, IA 50011, USA. Electronic address: serb@iastate.edu.
Muscle diseases include hereditary and acquired diseases with clinical manifestation in both childhood and adulthood. The different muscle diseases may have ultrastructural alterations that help us fu...
Pathophysiological analysis and drug discovery targeting human diseases require disease models that suitably recapitulate patient pathology. Disease-specific human induced pluripotent stem cells (hiPS...
LAMA2-related muscular dystrophy (LAMA2-MD) and SELENON(SEPN1)-related myopathy (SELENON-RM) are rare neuromuscular diseases caused by mutations in the LAMA2 and SELENON (SEPN1) gene, respectively. Sy...
Oculopharyngodistal myopathy (OPDM) is an autosomal dominant myopathy clinically characterized by distal muscle weakness. Even though the identification of four causative genes, LRP12, GIPC1, NOTCH2NL...
Axial muscle CT and/or T1-weighted MRI data from 54 genetically confirmed patients with OPDM (OPDM_LRP12; n = 43, OPDM_GIPC1; n = 6, OPDM_NOTCH2NLC; n = 5) and 57 with OPMD were evaluated. We scored t...
All OPDM subtypes showed a similar pattern of distribution in the affected muscles; soleus and medial gastrocnemius involved in the early stage, followed by tibialis anterior and extensor digitorum lo...
We identified a diagnostic muscle involvement pattern in OPDM reflecting its natural history. The results of this study will help in the appropriate intervention based on the diagnosis of OPDM, includ...
Tendinous and muscular anatomical variants around the ankle are usually an unexpected finding on imaging. Magnetic resonance imaging offers the best visualization of the accessory muscles; however, th...
To describe supplemental intervention (SI) frequency in infants with congenital muscular torticollis (CMT) and compare groups of infants who received first-choice intervention only to infants who rece...
Data were retrospectively extracted from a registry. Baseline and treatment variables were collected and analyzed....
The cohort included 907 infants with 85 receiving SI. Order of SI frequency was kinesiological tape, manual techniques, tubular orthosis for torticollis (TOT) collar, and the Benik system. Statistical...
Nine percent of infants received SI, most frequently kinesiological tape. Infants who received SI had larger baseline passive ROM and muscle function differences and more visits over a longer duration...
Spinal muscular atrophy (SMA), an autosomal-recessive lower motor neuron disease, causes progressive proximal muscle waste and weakness. It remains unclear whether myopathic changes are involved in pa...
Mutations in the prion-like domain of RNA binding proteins cause dysfunctional stress responses and associated aggregate pathology in patients with neurogenic and myopathic phenotypes. Recently, mutat...
We performed deep phenotyping and exome sequencing of patients from four large Greek families, including seven affected individuals with progressive muscle disease but no family history of multi-organ...
In our study, all patients presented with an autosomal dominant muscular dystrophy without any Paget disease of bone nor signs of frontotemporal dementia or Parkinson's disease. Histopathological anal...
Although the pathogenic mechanisms associated with p.D40Y mutation in the prion-like domain of Annexin A11 need to be further clarified, our study provides robust and clear genetic evidence to support...
We evaluated the clinical features and treatment response of patients with muscular sarcoidosis. A retrospective cohort of 12 patients showed muscle weakness in 11 and myalgia in seven. One had focal ...
Little clinical data is available on severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) in patients with muscular disorders (MDs). The immunogenicity of SARS-CoV-2 vaccines against MDs, in p...
All participants were vaccinated with two doses of mRNA vaccines (BNT162b2, Pfizer-BioNTech). The serum samples were collected from each patient on the day of second dose of vaccination, and then, con...
We evaluated 75 individuals, including 42 patients with MDs and 33 patients with non-muscular disorders (non-MDs). Non-MD patients primarily include those with severe motor and intellectual disabiliti...
Intensity and latency of antibody response were suppressed in patients with MDs. Although MDs may be a key contributor in predicting the antibody response to SARS-CoV-2 vaccination, SARS-CoV-2 immuniz...