Clinical utility of RNA sequencing to resolve unusual GNE myopathy with a novel promoter deletion.

abstract：INTRODUCTION:Pompe disease is a progressive and debilitating neuromuscular disorder that presents with a heterogeneous array of signs and symptoms including proximal muscle weakness, respiratory insufficiency, and/or elevated creatine kinase levels. It mimics other neuromuscular disorders, making its diagnosis challeng...

journal_title：Muscle & nerve

authors： Dubrovsky A,Corderi J,Karasarides T,Taratuto AL

更新日期：2013-04-01 00:00:00

abstract：INTRODUCTION:In this study we aimed to clarify whether muscle ultrasound (US) of the forearm can be used to differentiate between patients with sporadic inclusion body myositis (s-IBM) and those with s-IBM-mimicking diseases. METHODS:We compared the echo intensity (EI) of the flexor digitorum profundus (FDP) muscle an...

journal_title：Muscle & nerve

authors： Noto Y,Shiga K,Tsuji Y,Kondo M,Tokuda T,Mizuno T,Nakagawa M

更新日期：2014-05-01 00:00:00

abstract：INTRODUCTION:We adopted a proteomics-based approach to gain insights into phenotypic differences between A/J and B10.SJL murine dysferlinopathy models. METHODS:We optimized immunoblotting of dysferlin by preparing homogenates of the tibialis anterior (TA) muscle under several different conditions. We compared TA muscl...

journal_title：Muscle & nerve

authors： Mueller AL,Desmond PF,Hsia RC,Roche JA

更新日期：2014-08-01 00:00:00

abstract：INTRODUCTION:Stroke-related changes in maximal dynamic hip flexor muscle fatigability may be more relevant functionally than isometric hip flexor fatigability. METHODS:Ten chronic stroke survivors performed 5 sets of 30 hip flexion maximal dynamic voluntary contractions (MDVC). A maximal isometric voluntary contractio...

journal_title：Muscle & nerve

authors： Kuhnen HR,Rybar MM,Onushko T,Doyel RE,Hunter SK,Schmit BD,Hyngstrom AS

更新日期：2015-03-01 00:00:00

abstract：INTRODUCTION:The molecular mechanism of immune-mediated necrotizing myopathy (IMNM) remains unknown. Autophagy impairment, described in autoimmune diseases, is a key process in myofiber protein degradation flux and muscle integrity and has not been studied in IMNM. METHODS:Muscle biopsies from patients with IMNM (n = ...

journal_title：Muscle & nerve

authors： Girolamo F,Lia A,Annese T,Giannini M,Amati A,D'Abbicco D,Tampoia M,Virgintino D,Ribatti D,Serlenga L,Iannone F,Trojano M

更新日期：2019-09-01 00:00:00

abstract：:Loss of skeletal muscle mass (sarcopenia) is a major contributor to disability in old age. We used two-dimensional gel electrophoresis and mass spectrometry to screen for changes in proteins, and cDNA profiling to assess transcriptional regulations in the gastrocnemius muscle of adult (4 months) and aged (30 months) m...

journal_title：Muscle & nerve

authors： Altun M,Edström E,Spooner E,Flores-Moralez A,Bergman E,Tollet-Egnell P,Norstedt G,Kessler BM,Ulfhake B

更新日期：2007-08-01 00:00:00

abstract：:A review of our current knowledge of the etiology and pathogenesis of myasthenia gravis is presented, with particular emphasis on the immunological aspects of the disease. Part 1, published in the January/February issue of MUSCLE & NERVE, dealt with the clinical and genetic features of myasthenia gravis which led to t...

journal_title：Muscle & nerve

authors： Simpson JA

更新日期：1978-03-01 00:00:00

abstract：:The pathophysiology of hepatic neuropathy is poorly understood, but membrane depolarization due to a toxic inhibition of oxidative metabolism has been proposed. We investigated the relationship between nerve excitability properties, nerve dysfunction, and liver function in 11 pretransplant patients, the majority of wh...

journal_title：Muscle & nerve

authors： Ng K,Lin CS,Murray NM,Burroughs AK,Bostock H

更新日期：2007-06-01 00:00:00

abstract：INTRODUCTION:Muscle weakness and functional disability have not been evaluated in a population-based study of patients with myasthenia gravis (MG). METHODS:All patients with MG in a well-defined catchment area were identified in the Danish National Patient Registry. Of the 175 eligible patients, 90 participated and we...

journal_title：Muscle & nerve

authors： Vinge L,Jakobsen J,Andersen H

更新日期：2019-02-01 00:00:00

abstract：:A randomized double-blind therapeutic trial of isaxonine was completed over a 2-year period for 20 ambulant boys with Duchenne muscular dystrophy aged 5 1/2-10 years. The effect of the drug was monitored by measurement of walking times over 28 and 150 ft, motor ability score, MRC score based on 32 muscle groups, and m...

journal_title：Muscle & nerve

authors： Heckmatt JZ,Hyde SA,Gabain A,Dubowitz V

更新日期：1988-08-01 00:00:00

abstract：:Two sisters with a Charcot-Marie-Tooth disease type 1A (CMT1A) duplication, who had an unusual CMT1A clinical phenotype, are described. The 63-year-old proband presented with dysesthesia on the inner side of the right leg. Neurological examination revealed a localized sensory disturbance in the lower extremities and m...

journal_title：Muscle & nerve

authors： Murakami T,Oomori H,Hara A,Uyama E,Mita S,Uchino M

更新日期：1999-11-01 00:00:00

abstract：INTRODUCTION:Chronic immune sensorimotor polyradiculopathy (CISMP) is a chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) variant affecting both sensory and motor nerve roots without evidence of peripheral nerve demyelination. METHODS:We report a case series of 9 patients with CISMP, identified from 2 t...

journal_title：Muscle & nerve

authors： Thammongkolchai T,Suhaib O,Termsarasab P,Li Y,Katirji B

更新日期：2019-06-01 00:00:00

abstract：:Biochemical, morphologic, and biophysical studies support the concept that the red blood cell (RBC) membrane is altered in both myotonic muscular dystrophy (MyD) and Duchenne muscular dystrophy (DMD). These studies have not identified a primary metabolic defect that would explain the various alterations of membrane pr...

journal_title：Muscle & nerve

authors： Plishker GA,Appel SH

更新日期：1980-01-01 00:00:00

abstract：:We investigated factors affecting maximal voluntary torque and the assessment of the level of voluntary drive in the elbow flexor muscles. First, the effective compliance of the system was tested by using single, paired, and trains of four stimuli to measure voluntary activation. At high voluntary torques the response...

journal_title：Muscle & nerve

authors： Allen GM,McKenzie DK,Gandevia SC

更新日期：1998-03-01 00:00:00

abstract：:Epstein-Barr virus infection can affect both the central and peripheral nervous system. In some patients this occurs concurrently. Two patients are presented with encephalopathy and acute quadriparesis with diminished reflexes. Positive serology for Epstein-Barr virus was found in both patients. Both patients had a ce...

journal_title：Muscle & nerve

authors： Morgenlander JC

更新日期：1996-08-01 00:00:00

abstract：:We studied the effect of a gluten-free diet in patients with idiopathic sensorimotor axonal neuropathy and circulating antigliadin antibodies. Consecutive patients underwent baseline neurophysiological assessment and were offered a gluten-free diet. Those who went on the diet formed the intention-to-treat group and th...

journal_title：Muscle & nerve

authors： Hadjivassiliou M,Kandler RH,Chattopadhyay AK,Davies-Jones AG,Jarratt JA,Sanders DS,Sharrack B,Grünewald RA

更新日期：2006-12-01 00:00:00

abstract：:Electrophysiological studies were performed on the ventral tail nerve of adult rats following intraperitoneal injection of a crude extract of ciguatoxin from known toxic fish flesh. Ciguatoxin induced significant slowing of both mixed and motor nerve conduction velocities and also significant reductions in both motor ...

journal_title：Muscle & nerve

authors： Cameron J,Flowers AE,Capra MF

更新日期：1993-07-01 00:00:00

abstract：:We measured the peak voltage induced in a sensing loop by a Magstim 200 magnetic stimulator. Coil output varied little for repeated stimulation at the same intensity over a wide range of coil output. In contrast, the first stimulus immediately after a change in intensity was of larger amplitude and showed greater vari...

journal_title：Muscle & nerve

authors： Reutens DC,MacDonell RA,Berkovic SF

更新日期：1993-12-01 00:00:00

abstract：:Guillain-Barré syndrome (GBS) is an inflammatory polyradiculoneuropathy associated with numerous viral infections. Recently, there have been many case reports describing the association between coronavirus disease-2019 (COVID-19) and GBS, but much remains unknown about the strength of the association and the features ...

journal_title：Muscle & nerve

authors： Caress JB,Castoro RJ,Simmons Z,Scelsa SN,Lewis RA,Ahlawat A,Narayanaswami P

更新日期：2020-10-01 00:00:00

abstract：INTRODUCTION:Premotor potentials (PMPs) precede compound muscle action potentials evoked from the second lumbrical muscle after median nerve stimulation. Although PMP has been identified as a median sensory nerve action potential, few reports have documented the significance of PMP parameters for diagnosing carpal tunn...

journal_title：Muscle & nerve

authors： Kodama M,Sasao Y,Tochikura M,Kasahara T,Koyama Y,Aono K,Fujii C,Hanayama K,Takahashi O,Kobayashi Y,Masakado Y

更新日期：2012-12-01 00:00:00

abstract：:A link between the cardioprotective benefits of pharmacological preconditioning and natural mammalian hibernation is considered to involve the cellular activation of opioid receptors and subsequent opening of K(ATP) channels. In previous studies, we have demonstrated the protective effects of specific delta-opioid ago...

journal_title：Muscle & nerve

authors： Hong J,Sigg DC,Coles JA Jr,Oeltgen PR,Harlow HJ,Soule CL,Iaizzo PA

更新日期：2005-08-01 00:00:00

abstract：INTRODUCTION:We sought to define the whole-body MRI (WB-MRI) fingerprint of muscle involvement in pediatric LMNA-related dystrophy (LMNA-RD) and to compare it with SEPN1-related myopathy (SEPN1-RM). METHODS:Signal abnormality and atrophy in 109 muscles were scored by semiquantitative scales in 8 children with LMNA-RD ...

journal_title：Muscle & nerve

authors： Gómez-Andrés D,Dabaj I,Mompoint D,Hankiewicz K,Azzi V,Ioos C,Romero NB,Ben Yaou R,Bergounioux J,Bonne G,Richard P,Estournet B,Yves-Carlier R,Quijano-Roy S

更新日期：2016-08-01 00:00:00

abstract：:We report the case of a 27-year-old man treated for bilateral optic neuritis 5 and 3 years before who within a few months developed sensorimotor disorders of the arms and legs characterized by asymmetric distribution and distal prominence. In addition to sensorimotor defects, which were particularly marked in the left...

journal_title：Muscle & nerve

authors： Péréon Y,Jardel J,Guillon B,Guihéneuc P

更新日期：1994-11-01 00:00:00

abstract：INTRODUCTION:Sarcopenia likely comprises muscle fiber denervation and re-innervation, resulting in clustering of muscle fibers of the same type (classified by myosin heavy chain isoform composition). Development of methodology to quantitatively evaluate clustering of muscle fibers according to fiber type is necessary. ...

journal_title：Muscle & nerve

authors： Greising SM,Medina-Martínez JS,Vasdev AK,Sieck GC,Mantilla CB

更新日期：2015-07-01 00:00:00

abstract：:Spastic paresis follows chronic disruption of the central execution of volitional command. Motor function in patients with spastic paresis is subjected over time to three fundamental insults, of which the last two are avoidable: (1) the neural insult itself, which causes paresis, i.e., reduced voluntary motor unit rec...

journal_title：Muscle & nerve

authors： Gracies JM

更新日期：2005-05-01 00:00:00

abstract：INTRODUCTION:Electrical impedance myography (EIM) is an emerging non-invasive, highly reproducible electrophysiological technique that objectively characterizes muscle structure and composition by measuring bioimpedance. We assessed the ability of EIM ability to discriminate 2 forms of congenital muscular dystrophy (CM...

journal_title：Muscle & nerve

authors： Schwartz DP,Dastgir J,Salman A,Lear B,Bönnemann CG,Lehky TJ

更新日期：2016-03-01 00:00:00

abstract：:We propose a comprehensive model of spastic hypertonia based on clinical neurophysiology and validated using experimental data obtained from the pendulum test of the leg in 8 healthy volunteers and 15 spastic patients. This nonlinear computational model includes mechanical parameters and a stretch reflex representatio...

journal_title：Muscle & nerve

authors： Le Cavorzin P,Poudens SA,Chagneau F,Carrault G,Allain H,Rochcongar P

更新日期：2001-12-01 00:00:00

abstract：INTRODUCTION:Congenital myotonic dystrophy (CDM) occurs when symptoms of myotonic dystrophy present at birth. In this study we evaluated the relationship between physical function, muscle mass, and age to provide an assessment of the disease and help prepare for therapeutic trials. METHODS:CDM participants performed t...

journal_title：Muscle & nerve

authors： Pucillo EM,Dibella DL,Hung M,Bounsanga J,Crockett B,Dixon M,Butterfield RJ,Campbell C,Johnson NE

更新日期：2017-08-01 00:00:00

abstract：INTRODUCTION:In this study we present a reproducible technique to assess motor recovery after nerve injury via neuromuscular junction (NMJ) immunostaining and electrodiagnostic testing. METHODS:Wild-type mice underwent sciatic nerve transection with repair. Hindlimb muscles were collected for microscopy up to 30 weeks...

journal_title：Muscle & nerve

authors： Vannucci B,Santosa KB,Keane AM,Jablonka-Shariff A,Lu CY,Yan Y,MacEwan M,Snyder-Warwick AK

更新日期：2019-11-01 00:00:00

abstract：:Calmodulin levels have been assessed in whole muscle and primary culture extracts in order to examine the relationship between calmodulin and the accumulation of calcium in dystrophic hamster muscle tissues. Significant decreases in both normal and dystrophic skeletal muscle, tongue, and heart calmodulin levels were o...

journal_title：Muscle & nerve

authors： Klamut HJ,Kotarba JA,Strickland KP

更新日期：1987-01-01 00:00:00