Results 91 to 100 of about 419,034 (232)

Radial outer retina reflectivity (RORR) sign in LAMP2‐associated retinopathy

Acta Ophthalmologica, EarlyView.
Abstract Purpose To describe the radial outer retina reflectivity (RORR) sign in patients carrying pathogenic variants in the X‐linked lysosome‐associated membrane protein‐2 (LAMP2) gene and to review the histologic characteristics of LAMP2 expression in the human retina.
Rachael C. Heath Jeffery, Bohdan Kousal, Ulrike Grünert, Christine A. Curcio, Svetlana Cherepanoff, Tina M. Lamey, Michel Michaelides, Chrysanthi Tsika, Isabelle Chow, Omar A. Mahroo, Seungmin Lee, Martin Meliska, Milos Kubanek, Jakub Sikora, Siying Lin, Raymond C. B. Wong, Petra Liskova, Fred K. Chen   +17 more
wiley   +1 more source

MELAS: clinical features, muscle biopsy and molecular genetics MELAS: manifestações clínicas, biópsia muscular e estudo molecular

Arquivos de Neuro-Psiquiatria, 2009
OBJECTIVE: The aim of the study was to analyze a series of Brazilian patients suffering from MELAS. METHOD: Ten patients with MELAS were studied with correlation between clinical findings, laboratorial data, electrophysiology, histochemical and molecular
Paulo José Lorenzoni, Rosana H. Scola, Cláudia S. Kamoi Kay, Raquel C. Arndt, Aline A. Freund, Isac Bruck, Mara Lúcia S.F. Santos, Lineu C. Werneck   +7 more
doaj   +1 more source

A novel myopathy with autophagic vacuoles associated with biallelic variants in CLN8

Brain Pathology, EarlyView.
We describe a novel adult‐onset myopathy with autophagic vacuoles and characteristic features of ceroid lipofuscinosis associated with biallelic CLN8 variants, seizures, and muscle weakness. Autophagosomal/lysosomal deposition of curvilinear, autofluorescent material containing the mitochondrial adenosine triphosphate (ATP) synthase membrane subunit c ...
Ulrika Lindgren, Carola Hedberg‐Oldfors, Kittichate Visuttijai, Sara Nordström, Hans Goebel, Anders Oldfors   +5 more
wiley   +1 more source

Delayed Diagnosis of Congenital Myasthenic Syndromes Erroneously Interpreted as Mitochondrial Myopathies. [PDF]

J Clin Med, 2023
Muñoz-García MI, Guerrero-Molina MP, de Fuenmayor-Fernández de la Hoz CP, Bermejo-Guerrero L, Arteche-López A, Hernández-Laín A, Martín MA, Domínguez-González C.   +7 more
europepmc   +1 more source

Cardiopulmonary Exercise Testing (CPET) Guided Sub‐Anaerobic Threshold Rehabilitation in MELAS Syndrome: A Case Report

The Kaohsiung Journal of Medical Sciences, EarlyView.
Yu‐Lien Tsai, Kun‐Yuan Cheng, Yen‐Sen Lu, Ko‐Long Lin   +3 more
wiley   +1 more source

Identifying regulatory muscle processes in infantile and adult Pompe patients using a multi‐omic and morphological approach

Brain Pathology, EarlyView.
The study highlights differences in the regulatory processes of skeletal muscle, such as sarcomeric contractility, lysosomal and autophagic function, metabolic activity and immune regulation, at transcriptomic and proteomic levels in infantile and adult Pompe disease.
Alexander Schaiter, Keerthika Lohanadan, Alexander Mensch, Andreas Hentschel, Angela Rosenbohm, Cornelia Kornblum, Angela Roth, Tara Procida‐Kowalski, Heidrun H. Krämer, Andreas Hahn, Jörg Höhfeld, Dieter O. Fürst, Werner Stenzel, Peter F. M. van der Ven, Andreas Roos, Marek Bartkuhn, Anne Schänzer   +16 more
wiley   +1 more source

Navigating Life With Primary Mitochondrial Myopathies: The Importance of the Patient Voice and Implications for Clinical Practice. [PDF]

J Prim Care Community Health, 2023
Moore M, Yeske P, Parikh S.
europepmc   +1 more source

Reply to Comment on: “Based on a Single Case, Cardiopulmonary Training Cannot Be Recommended as Therapy for Hemiparesis in MELAS With Ischemic Stroke”

The Kaohsiung Journal of Medical Sciences, EarlyView.
Yen‐Sen Lu, Ko‐Long Lin
wiley   +1 more source

Voice Fundamental Frequency Variation and Statin Therapy

Clinical Otolaryngology, EarlyView.
ABSTRACT Objectives Statins are considered a first‐line treatment for dyslipidaemia, being the most frequently prescribed medicine worldwide. However, statin therapy has been associated with several adverse effects, including statin‐associated myopathy, which may manifest with symptoms such as myalgia, muscle stiffness, and cramps.
Luca Francesco Parata, Paola Andreozzi, Lydia Thaleia Tzigkie, Marco de Vincentiis, Diletta Angeletti, Massimo Fusconi   +5 more
wiley   +1 more source

Multi-Allelic Mitochondrial DNA Deletions in an Adult Dog with Chronic Weakness, Exercise Intolerance and Lactic Acidemia

Animals
(1) Background: An adult dog was presented to a board-certified veterinary neurologist for evaluation of chronic weakness, exercise intolerance and lactic acidemia.
G. Diane Shelton, James R. Mickelson, Steven G. Friedenberg, Jonah N. Cullen, Jaya M. Mehra, Ling T. Guo, Katie M. Minor   +6 more
doaj   +1 more source