Results 51 to 60 of about 2,985,698 (230)

An update on the neurological short tandem repeat expansion disorders and the emergence of long-read sequencing diagnostics

Acta Neuropathologica Communications, 2021
Background Short tandem repeat (STR) expansion disorders are an important cause of human neurological disease. They have an established role in more than 40 different phenotypes including the myotonic dystrophies, Fragile X syndrome, Huntington’s disease,
Sanjog R. Chintalaphani, S. S. Pineda, I. Deveson, K. Kumar   +3 more
semanticscholar   +1 more source

Quantitative methods to monitor RNA biomarkers in myotonic dystrophy [PDF]

, 2018
Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are human neuromuscular disorders associated with mutations of simple repetitive sequences in afected genes.
A Ketley, A Mankodi, A Mankodi, A Perfetti, AE Gudde, AO Nygren, BJ Hindson, CL Liquori, E Eldering, J Liu, JD Brook, JF Huggett, JF Huggett, JP Schouten, K Klonowska, KL Taneja, LJ Sznajder, M DeJesus-Hernandez, M Goodwin, M Marcinkowska-Swojak, M Marcinkowska-Swojak, M Nakamori, M Rozanska, M Wojciechowska, M Wojciechowska, M Wojciechowska, MG Hamshere, P Kozlowski, R Batra, RA White 3rd, RB Siboni   +30 more
core   +1 more source

Unravelling the impact of frontal lobe impairment for social dysfunction in myotonic dystrophy type 1

Brain Communications, 2022
Myotonic dystrophy type 1 is an autosomal dominant multisystemic disorder affecting muscular and extra muscular systems, including the central nervous system.
Alexandre Morin, A. Funkiewiez, A. Routier, R. Le Bouc, Nicolas Borderies, D. Galanaud, R. Levy, M. Pessiglione, B. Dubois, B. Eymard, C. Michon, N. Angeard, A. Béhin, P. Laforêt, T. Stojkovic, C. Azuar   +15 more
semanticscholar   +1 more source

MicroRNA-222 regulates muscle alternative splicing through Rbm24 during differentiation of skeletal muscle cells [PDF]

, 2016
A number of microRNAs have been shown to regulate skeletal muscle development and differentiation. MicroRNA-222 is downregulated during myogenic differentiation and its overexpression leads to alteration of muscle differentiation process and specialized ...
Cappella, Marisa, Cardinali, B., Cittaro, D., Falcone, G., Garcia Manteiga, J. M., Lazarevic, D., Martelli, F, Provenzano, C.   +7 more
core   +2 more sources

Immune‐Driven Expression in Inclusion Body Myositis With T‐Cell Large Granular Lymphocytic Leukemia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives T‐cell large granular lymphocytic leukemia (T‐LGLL), reported in up to 58% of inclusion body myositis (IBM) patients, is a rare leukemia of cytotoxic or less commonly helper T cells. The range of myopathies in T‐LGLL and the impact of coexisting T‐LGLL in IBM are not well understood. Our objectives are to investigate the spectrum of
Pannathat Soontrapa, Iago Pinal‐Fernandez, Pritikanta Paul, Michael P. Skolka, Margherita Milone, Min Shi, Mithun V. Shah, Maria Casal‐Dominguez, Katherine Pak, Andrew L. Mammen, Teerin Liewluck   +10 more
wiley   +1 more source

Cardiac involvement in children with neuro-muscular disorders

Нервно-мышечные болезни, 2015
Many inherited neuromuscular disorders include cardiac involvement as a typical clinical feature. Among the most common of them is the group of muscular dystrophies.
E. N. Arkhipova
doaj   +1 more source

Sleep Disorders in Four Patients With Myotonic Dystrophy Type 1

Frontiers in Neurology, 2020
Sleep disturbances such as excessive daytime sleepiness, central and obstructive sleep apneas, restless legs syndrome, and rapid eye movement sleep dysregulation are prominent in patients with myotonic dystrophy type 1 (DM1).
Yuka Urata, Masayuki Nakamura, Nari Shiokawa, Aiko Yasuniwa, Nagisa Takamori, Kensuke Imamura, Takehiro Hayashi, Takanori Ishizuka, Motofumi Kasugai, Akira Sano   +9 more
doaj   +1 more source

A 73‐Year‐Old Man With Several Years of Difficulty Climbing Stairs and Frequent Tripping

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT A 73‐year‐old man presented with progressive weakness and atrophy predominantly affecting the distal finger flexors and quadriceps muscles. Electrophysiological studies demonstrated mixed myogenic and neurogenic features. Muscle MRI showed inflammatory changes, and muscle biopsy revealed granulomatous myositis with histologic features ...
Mehmet Can Sari, Arens Taga, Sonya Ulrike Steele, Ahmet Hoke   +3 more
wiley   +1 more source

Myotonic Disorders in an EMG Lab Over 12 Years

Pediatric Neurology Briefs, 2012
Researchers at the EMG Laboratory, Boston Children's Hospital, MA assessed the spectrum of disorders associated with electrophysiologic myotonia in a pediatric electromyography laboratory.
J Gordon Millichap
doaj   +1 more source

Muscle Ultrasound Shear Wave Elastography as a Non-Invasive Biomarker in Myotonia

Diagnostics, 2021
Myotonia, i.e., delayed muscle relaxation in certain hereditary muscle disorders, can be assessed quantitatively using different techniques ranging from force measurements to electrodiagnostics.
Cornelius Kronlage, Alexander Grimm, Alyssa Romano, Jan-Hendrik Stahl, Pascal Martin, Natalie Winter, Justus Marquetand   +6 more
doaj   +1 more source