Nerve conduction studies in amyotrophic lateral sclerosis.

abstract：:Congenital myasthenic syndromes (CMS) stem from defects in presynaptic, synaptic basal lamina, and postsynaptic proteins. The presynaptic CMS are associated with defects that curtail the evoked release of acetylcholine (ACh) quanta or ACh resynthesis. Defects in ACh resynthesis have now been traced to mutations in cho...

journal_title：Muscle & nerve

authors： Engel AG,Ohno K,Sine SM

更新日期：2003-01-01 00:00:00

abstract：:Ion channels are complex proteins that span the lipid bilayer of the cell membrane, where they orchestrate the electrical signals necessary for normal function of the central nervous system, peripheral nerve, and both skeletal and cardiac muscle. The role of ion channel defects in the pathogenesis of numerous disorder...

journal_title：Muscle & nerve

authors： Kleopa KA,Barchi RL

更新日期：2002-09-01 00:00:00

abstract：:Autosomal dominant oculopharyngeal muscular dystrophy (OPMD) is an adult-onset disease caused by (GCG) repeat expansions in exon 1 of the poly(A) binding protein 2 gene (PABP2). To elucidate the molecular mechanism underlying the disease, we raised an antiserum against a synthetic peptide fragment predicted from PABP2...

journal_title：Muscle & nerve

authors： Uyama E,Tsukahara T,Goto K,Kurano Y,Ogawa M,Kim YJ,Uchino M,Arahata K

更新日期：2000-10-01 00:00:00

abstract：:Isometric contractile properties of human elbow flexor muscles were examined in 27 normal subjects (7 females and 20 males). Contractions of elbow flexors were elicited by application of electrical pulses to the biceps motor points. The tension development was recorded at the wrist with the elbow angle fixed at 90 deg...

journal_title：Muscle & nerve

authors： Ismail HM,Ranatunga KW

更新日期：1981-05-01 00:00:00

abstract：:We have identified a novel missense mutation in the myophosphorylase gene in a Spanish patient with McArdle's disease. The patient was homozygous for a T-to-C transition at codon 115 (L115P) in exon 3, which changed an encoded leucine (CUG) to a proline (CCG). This is the first mutation to be described in exon 3 and i...

journal_title：Muscle & nerve

authors： Gamez J,Fernandez R,Bruno C,Andreu AL,Cervera C,Navarro C,Schwartz S,Dimauro S

更新日期：1999-08-01 00:00:00

abstract：INTRODUCTION:We sought to determine the specificity of compound muscle action potential (CMAP) durations and amplitudes in a large critical illness neuromyopathy (CINM) cohort relative to controls with other neuromuscular conditions. METHODS:Fifty-eight patients with CINM who had been seen over a 17-year period were r...

journal_title：Muscle & nerve

authors： Kramer CL,Boon AJ,Harper CM,Goodman BP

更新日期：2018-03-01 00:00:00

abstract：BACKGROUND:Our pilot study tested the feasibility and performance of an eye-controlled power wheelchair for amyotrophic lateral sclerosis (ALS) patients. METHODS:In this prospective pilot study, participants drove the wheelchair three times around an indoor course. We assessed the time to complete the course; starting...

journal_title：Muscle & nerve

authors： Elliott MA,Malvar H,Maassel LL,Campbell J,Kulkarni H,Spiridonova I,Sophy N,Beavers J,Paradiso A,Needham C,Rifley J,Duffield M,Crawford J,Wood B,Cox EJ,Scanlan JM

更新日期：2019-11-01 00:00:00

abstract：:We report a family with familial amyloid polyneuropathy (FAP), showing an early-onset and a fatal outcome before age 30. Transthyretin (TTR) gene analysis showed one point mutation (T-->C change) in the second base of codon 55, and the corresponding amino acid substitution of proline (Pro) for leucine (Leu) was confir...

journal_title：Muscle & nerve

authors： Yamamoto K,Hsu SP,Yoshida K,Ikeda S,Nakazato M,Shiomi K,Cheng SY,Furihata K,Ueno I,Yanagisawa N

更新日期：1994-06-01 00:00:00

abstract：:Schwartz-Jampel syndrome (SJS) is an autosomal-recessive condition characterized by muscle stiffness and chondrodysplasia. It is due to loss-of-function hypomorphic mutations in the HSPG2 gene that encodes for perlecan, a proteoglycan secreted into the basement membrane. The origin of muscle stiffness in SJS is debate...

journal_title：Muscle & nerve

authors： Echaniz-Laguna A,Rene F,Marcel C,Bangratz M,Fontaine B,Loeffler JP,Nicole S

更新日期：2009-07-01 00:00:00

abstract：:Isoproterenol (ISO), a potent beta-adrenoreceptor agonist, was found to interfere with the development and progression of hamster hereditary polymyopathy. Cytoprotection involved both skeletal and heart muscles with reduced myofibrillar degeneration, phagocytosis, and an unusual scarring process rarely seen at this st...

journal_title：Muscle & nerve

authors： Jasmin G,Proschek L

更新日期：1983-07-01 00:00:00

abstract：INTRODUCTION:RASopathies are a group of genetic conditions due to alterations of the Ras/MAPK pathway. Neurocutaneous findings are hallmark features of the RASopathies, but musculoskeletal abnormalities are also frequent. The objective was to evaluate handgrip strength in the RASopathies. METHODS:Individuals with RASo...

journal_title：Muscle & nerve

authors： Stevenson DA,Allen S,Tidyman WE,Carey JC,Viskochil DH,Stevens A,Hanson H,Sheng X,Thompson BA,Okumura MJ,Reinker K,Johnson B,Rauen KA

更新日期：2012-09-01 00:00:00

abstract：:This study compared the force output produced by variable frequency, short-duration trains (VFTs) of electrical pulses with the forces produced by constant frequency, short-duration trains (CFTs). Human quadriceps femoris muscle was stimulated with a 300-msec train of pulses once every second for 180 seconds. Each sub...

journal_title：Muscle & nerve

authors： Binder-Macleod SA,Barker CB 3rd

更新日期：1991-09-01 00:00:00

abstract：INTRODUCTION:This study was designed to assess the effect of extracorporeal shock-wave lithotripsy (ESWL) exposure of the parotid gland on oxidative stress and some trace element levels in the facial nerves of rats. METHODS:Twelve male Wistar albino rats were divided into two groups, each consisting of 6 animals. The ...

journal_title：Muscle & nerve

authors： Kavak S,Garca MF,Gecit I,Meral I,Cengiz N,Demir H

更新日期：2012-04-01 00:00:00

abstract：INTRODUCTION:Muscle growth and regeneration are processes closely associated with proliferation, differentiation, and apoptosis of muscle cells. Death-associated protein 1 (DAP1) has been identified as a negative regulator of autophagy. Little is known about the function of DAP1 in the regulation of myogenesis and sate...

journal_title：Muscle & nerve

authors： Shin J,McFarland DC,Strasburg GM,Velleman SG

更新日期：2013-11-01 00:00:00

abstract：:Genetic testing is rapidly becoming an increasingly significant part of the diagnostic armamentarium of neuromuscular clinicians. Although technically easy to order, the results of such testing, whether positive or negative, have potentially enormous consequences for the individual tested and for family members. As a ...

journal_title：Muscle & nerve

authors： Su X,Kang PB,Russell JA,Simmons Z

更新日期：2016-12-01 00:00:00

abstract：INTRODUCTION:The involvement of small myelinated fibers in the early stages of diabetic neuropathy (DN) has been suggested, but few objective methods can identify minimal neuropathy. The purpose of this study was to determine whether there are differences in contact heat evoked potential (CHEP) parameters between healt...

journal_title：Muscle & nerve

authors： Wong MC,Chung JW

更新日期：2011-12-01 00:00:00

abstract：:Patients with acute motor axonal neuropathy (AMAN) generally recover well. We reviewed clinical and electrophysiologic recovery in 13 patients for up to 5 years. Twelve patients showed rapid recovery over 12 months, whereas in the remaining one the recovery was slow and incomplete at 5 years. In AMAN, axonal degenerat...

journal_title：Muscle & nerve

authors： Tamura N,Kuwabara S,Misawa S,Kanai K,Nakata M,Sawai S,Mori M,Hattori T

更新日期：2007-06-01 00:00:00

abstract：:The reliability of motor unit number estimation (MUNE) for assessment of the long-term course of ALS is dependent on the reproducibility of the technique. We report our results with the statistical method of MUNE on the ulnar nerve/hypothenar muscle in 16 ALS patients who were studied on 52 occasions. On each occasion...

journal_title：Muscle & nerve

authors： Olney RK,Yuen EC,Engstrom JW

更新日期：2000-02-01 00:00:00

abstract：INTRODUCTION:We describe a novel, clinically applicable conduction study of the laryngeal nerves. METHODS:Seventeen normal volunteer subjects were included. Activation of the sensory territory of the superior laryngeal nerve was performed by administration of low level brief electrical stimuli. The laryngeal closure r...

journal_title：Muscle & nerve

authors： Carey B,Sulica L,Wu A,Branski R

更新日期：2013-03-01 00:00:00

abstract：INTRODUCTION:Psoriasis is a T-cell-mediated skin disorder with uncommon extracutaneous manifestations. Rare patients with psoriasis and myopathy have been reported. METHODS:We conducted a retrospective review of medical records of psoriasis patients seen at the Mayo Clinic during the period from January 1, 1996 to May...

journal_title：Muscle & nerve

authors： Liewluck T,Ernste FC,Tracy JA

更新日期：2013-11-01 00:00:00

abstract：:Both high and low body mass index (BMI) have been reported as risk factors for ulnar neuropathy at the elbow (UNE), and a high BMI as a risk factor for carpal tunnel syndrome (CTS). To determine whether the extremes of BMI are risk factors for UNE or CTS, and whether BMI affects calculation of median and ulnar motor n...

journal_title：Muscle & nerve

authors： Landau ME,Barner KC,Campbell WW

更新日期：2005-09-01 00:00:00

abstract：:Phospholipid methylation is thought to modulate such vital cellular processes as calcium transport, receptor function, and membrane microviscosity. As these processes are fundamental to the function of muscle cells and are thought to be altered in disease states, we have characterized several features of phospholipid ...

journal_title：Muscle & nerve

authors： Kuncl RW,Drachman DB,Kishimoto Y

更新日期：1985-06-01 00:00:00

abstract：BACKGROUND:Diagnosing cervical radiculopathy (CR) can be difficult because of symptomatic overlap with peripheral neuropathies. In this retrospective observational study, we aimed to determine whether short-tau inversion recovery (STIR) magnetic resonance imaging (MRI) sequences are useful for detecting signs of denerv...

journal_title：Muscle & nerve

authors： Yoshida T,Suwazono S,Sueyoshi T,Izumi Y,Nodera H

更新日期：2020-12-13 00:00:00

abstract：INTRODUCTION:Hereditary transthyretin (hATTR) amyloidosis is a progressive, degenerative disease, with peripheral neuropathy, cardiomyopathy, and other clinical manifestations. In this study we examine the impact of hATTR amyloidosis on quality of life (QOL). METHODS:Neuropathy-specific QOL, measured with the Norfolk ...

journal_title：Muscle & nerve

authors： Yarlas A,Gertz MA,Dasgupta NR,Obici L,Pollock M,Ackermann EJ,Lovley A,Kessler AS,Patel PA,White MK,Guthrie SD

更新日期：2019-08-01 00:00:00

abstract：:Seven 2-day-old golden retriever pups were given focal intramuscular injections of a first generation adenovirus-dystrophin minigene construct and adenovirus-beta-galactosidase construct as a 2:1 mixture into the left anterior tibial muscle. The spread of transgene expression within the anterior tibial muscle was comp...

journal_title：Muscle & nerve

authors： O'Hara AJ,Howell JM,Taplin RH,Fletcher S,Lloyd F,Kakulas B,Lochmüller H,Karpati G

更新日期：2001-04-01 00:00:00

abstract：INTRODUCTION:We investigated the viscoelastic stress relaxation response before and after a 10-week hamstrings static stretch program. METHODS:The maximal range of motion (ROMmax ) and maximal torque (Torquemax ) were assessed before and after a 10-week stretching program. Six 30-s static stretches at a predetermined ...

journal_title：Muscle & nerve

authors： Peixoto GH,Andrade AG,Menzel HJ,Araújo SR,Pertence AE,Chagas MH

更新日期：2015-05-01 00:00:00

abstract：INTRODUCTION:Topical application of lidocaine-and-prilocaine (LP) cream attenuates the functionality of small cutaneous nerve fibers. The aim of this human study was to measure the underlying excitability modulation of small cutaneous nerve fibers using a novel and fast perception threshold tracking (PTT) technique. M...

journal_title：Muscle & nerve

authors： Nielson Hoberg T,Frahm S,Hennings K,Arendt-Nielsen L,Dahl Mørch C

更新日期：2019-10-01 00:00:00

abstract：:The influence of the recording site on the motor unit potentials (MUPs) was investigated in the brachial biceps muscle of 8 healthy subjects. The MUPs were recorded with a concentric needle electrode and analyzed with a new decomposition EMG program we call multi-MUP analysis. MUPs had shorter durations and smaller am...

journal_title：Muscle & nerve

authors： Falck B,Stålberg E,Bischoff C

更新日期：1995-12-01 00:00:00

abstract：:Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) and membranous glomerulonephritis (MGN) are both autoimmune disorders that are rarely observed concurrently. We describe a patient who developed MGN nearly 20 years after the onset of CIDP, resulting in a secondary progression of his neuropathy. He respo...

journal_title：Muscle & nerve

authors： Smyth S,Menkes DL

更新日期：2008-01-01 00:00:00

abstract：INTRODUCTION:Immune-mediated myopathies are a heterogeneous group of chronic autoimmune disorders. Autoantibodies associated with this disease complex are classified into myositis-associated and myositis-specific. Anti-tRNA synthetase antibodies are the most well known of the myositis-specific antibodies. Previous repo...

journal_title：Muscle & nerve

authors： Mehndiratta P,Mehta S,Manjila SV,Kammer GM,Cohen ML,Preston DC

更新日期：2012-08-01 00:00:00