Results 61 to 70 of about 7,623 (172)

Quantitative Guanidinium CEST‐Based pH Mapping at 3 T in Healthy and Pathological Muscle

NMR in Biomedicine, Volume 39, Issue 8, August 2026.
Chemical exchange saturation transfer (CEST) enables high‐resolution pH mapping by measuring the exchange rate between guanidinium and water protons. The current method is based on the Z‐spectra fitting with Bloch–McConnell (BM) equations and allows us to detect pH variations on the order of 0.02 pH units in the very restrained pathophysiological pH ...
Valentin Henriet, Pierre‐Yves Baudin, Benjamin Marty, Marc Lapert, Harmen Reyngoudt   +4 more
wiley   +1 more source

A Recurrent Pathogenic Variant of INPP5K Underlies Autosomal Recessive Congenital Muscular Dystrophy With Cataracts and Intellectual Disability: Evidence for a Founder Effect in Southern Italy

Frontiers in Genetics, 2020
Inositol polyphosphate-5-phosphatase K [INPP5K (MIM: 607875)] acts as a PIP3 5-phosphatase and regulates actin cytoskeleton, insulin, and cell migration.
Adele D’Amico, Adele D’Amico, Fabiana Fattori, Fabiana Fattori, Francesco Nicita, Francesco Nicita, Sabina Barresi, Giorgio Tasca, Margherita Verardo, Simone Pizzi, Isabella Moroni, Francesca De Mitri, Annalia Frongia, Marika Pane, Eugenio Mercuri, Marco Tartaglia, Enrico Bertini, Enrico Bertini   +17 more
doaj   +1 more source

3D Radiomic Texture Analysis of Quantitative Muscle MRI Enhances the Distinction Between Myotonic Dystrophy Type 1 and Charcot–Marie‐Tooth Neuropathy Type 1A: A Proof‐of‐Concept Study

European Journal of Neurology, Volume 33, Issue 8, August 2026.
In this proof‐of‐concept study, 3D radiomic texture analysis of quantitative muscle MRI (proton density fat fraction (PDFF, %) maps) distinguished the myogenic disease DM1 from the neurogenic disease CMT1A. Compared with DM1, CMT1A showed higher entropy, contrast, and lower homogeneity, reflecting a reticular vs.
Louise Iterbeke, Lotte Huysmans, Kobe Bamps, Ronald Peeters, Veerle Goosens, Frederik Maes, Patrick Dupont, Kristl G. Claeys   +7 more
wiley   +1 more source

Essential neuromuscular advice for pathologists: Limb Girdle Muscular Dystrophy (second of two parts)

Surgical and Experimental Pathology
Background Limb Girdle Muscular Dystrophy is defined as a group of progressive autosomal recessive (85%, 28 genes) and autosomal dominant (15%, 5 genes) muscular dystrophies described in at least two unrelated families, affecting individuals that achieve
Ana Cotta, Elmano Carvalho, Antonio Lopes da-Cunha-Júnior, Julio Salgado Antunes, Francineide Sadala de Souza, Heveline Becker de Moura, Andreia Portilho de Brito Pinto, Jaquelin Valicek, Monica Machado Navarro, Frederico Godinho, Eni Braga da Silveira, Maria Isabel Lima, Bruno Arrivabene Cordeiro, Alexandre Faleiros Cauhi, Miriam Melo Menezes, Simone Vilela Nunes-Neves, Antonio Pedro Vargas, Rafael Xavier da-Silva-Neto, Renata Lobo Giron, Cynthia Costa-e-Silva, Reinaldo Issao Takata, Julia Filardi Paim   +21 more
doaj   +1 more source

Bone health in adults with non‐ambulatory neuromuscular disorders: scoping review of risk factors, diagnosis and management

Internal Medicine Journal, Volume 56, Issue 8, Page 1283-1300, August 2026.
Abstract Background Non‐ambulatory adults have an increased risk of osteoporosis and fractures due to reduced weight‐bearing and diminished neuromuscular stimulation, resulting in substantial morbidity and mortality. Aims This scoping review aimed to systematically evaluate risk factors, diagnostic indicators and management strategies for optimising ...
Thomas Bailey, Carolyn Droste, John A. Eisman, Steven G. Faux, Arnagretta Hunter   +4 more
wiley   +1 more source

Limb-girdle muscular dystrophies [PDF]

Neurologie pro praxi, 2021
Lenka Fajkusová, Jana Zídková
openaire   +2 more sources

Evaluation of quantitative muscle MRI and an intelligent phenotyping housing system as advanced phenotyping methods in a mouse model of calpain 3‐deficient muscular dystrophy

Animal Models and Experimental Medicine, Volume 9, Issue 7, Page 1469-1479, July 2026.
We applied quantitative MRI of the lower limb and automated home‐cage phenotyping to a mouse model of calpainopathy to detect early disease changes. At 15 months, calpain 3‐deficient mice showed increased water T2 values correlating with immune cell infiltration in the soleus and gastrocnemius muscles, while assessment of motor activity revealed only ...
Nicolina Südkamp, Marlena Rohm, Gabriele Russo, Xavier Helluy, Abdulhadi Kocabas, Martijn Froeling, Felix Kleefeld, Denise Manahan‐Vaughan, Tobias Ruck, Frank Jacobsen, Matthias Vorgerd, Johannes Forsting, Lara Schlaffke   +12 more
wiley   +1 more source

Phenotypic and immunohistochemical characterization of sarcoglycanopathies

Clinics, 2011
INTRODUCTION: Limb-girdle muscular dystrophy presents with heterogeneous clinical and molecular features. The primary characteristic of this disorder is proximal muscular weakness with variable age of onset, speed of progression, and intensity of ...
Ana F. B. Ferreira, Mary S. Carvalho, Maria Bernadete D. Resende, Alda Wakamatsu, Umbertina Conti Reed, Suely Kazue Nagahashi Marie   +5 more
doaj   +1 more source

Generation of a lamin A/C knockout human induced pluripotent stem cell line (ZJULLi007-A) via CRISPR/Cas9

Stem Cell Research
Lamin A/C is a protein encoded by the LMNA gene and belongs to the nuclear lamina protein family. Mutations in the LMNA gene lead to several diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy ...
Dandan Liu, Jiaxi Shen, Zongkuai Yang, Hangping Fan, Hao Wang, Ping Liang, Tingyu Gong   +6 more
doaj   +1 more source

A case of paraplegia due to limb girdle muscular dystrophy with coexisting gitelman’s syndrome

Asian Journal of Medical Sciences, 2016
Muscular dystrophies are a rare group of disorders affecting the skeletal muscles, which are progressive, hereditary and degenerative. A sudden worsening of the condition should raise the possibility of hypokalemia, followed by its evaluation and ...
Robin George Manappallil
doaj   +1 more source