Exon 17 skipping in CLCN1 leads to recessive myotonia congenita.

abstract：:Motor unit action potentials (MUAPs) evoked by repetitive, low-intensity transcranial magnetic stimulation can be modeled as a Poisson process. A mathematical consequence of such a model is that the ratio of the variance to the mean of the amplitudes of motor evoked potentials (MEPs) should provide an estimate of the ...

journal_title：Muscle & nerve

authors： Kaelin-Lang A,Conforto AB,Z'Graggen W,Hess CW

更新日期：2010-11-01 00:00:00

abstract：:Peripheral nerve lesions are sometimes associated with focal dystonia. We diagnosed ulnar neuropathy in 28 of 73 (40%) cases of occupational cramp in musicians. Focal slowing of ulnar conduction across the elbow was identified in 15 of 19 (79%) patients using the near nerve technique and in 5 of 17 (29%) patients usin...

journal_title：Muscle & nerve

authors： Charness ME,Ross MH,Shefner JM

更新日期：1996-04-01 00:00:00

abstract：INTRODUCTION:Neuralgic amyotrophy (NA) often imposes diagnostic problems. Recently, MRI and high-resolution ultrasound (HRUS) have proven useful in diagnosing peripheral nerve disorders. METHODS:We performed a chart and imaging review of patients who were examined using neuroimaging and who were referred because of cl...

journal_title：Muscle & nerve

authors： Lieba-Samal D,Jengojan S,Kasprian G,Wöber C,Bodner G

更新日期：2016-12-01 00:00:00

abstract：:Neurotrophic factors are growth factors or cytokines that are inducible polypeptides and permit intercellular communication. An explosion of information about neurotrophic factors is setting the stage for significant advances in neural disease therapy in the next century. The effects of these trophic factors are overl...

journal_title：Muscle & nerve

authors： Mitsumoto H,Tsuzaka K

更新日期：1999-08-01 00:00:00

abstract：INTRODUCTION:The best treatment strategy for mild ulnar neuropathy at the elbow (UNE) is not known, due to lack of trials comparing surgery vs conservative treatment. METHODS:We recruited patients with clinical symptoms and signs of mild UNE and an electrophysiologically or sonographically confirmed diagnosis. Patient...

journal_title：Muscle & nerve

authors： Pompe SM,Schreuder T,Teunissen LL,Visser LH,Beekman R

更新日期：2020-08-01 00:00:00

abstract：INTRODUCTION:Nebulin is a giant actin-binding protein in the thin filament of the skeletal muscle sarcomere. Studies of nebulin interactions are limited by the size, complexity, and poor solubility of the protein. We divided the nebulin super-repeat region into a super-repeat panel, and studied nebulin/actin interactio...

journal_title：Muscle & nerve

authors： Laitila J,Lehtonen J,Lehtokari VL,Sagath L,Wallgren-Pettersson C,Grönholm M,Pelin K

更新日期：2019-01-01 00:00:00

abstract：INTRODUCTION:Contradictory reports of the myosin heavy chain (MHC) composition of adult human suprahyoid muscles leave unresolved the extent to which these muscles express developmental and unconventional MHC. METHODS:By immunohistochemistry, separation sodium dodecyl sulfate-polyacrylamide gel electrophoresis (SDS-PA...

journal_title：Muscle & nerve

authors： Luo Q,Douglas M,Burkholder T,Sokoloff AJ

更新日期：2014-04-01 00:00:00

abstract：:Ocular movements and coordination require complex and integrated functions of somatic and autonomic nervous systems. Neurological disorders affecting these nervous systems may cause ocular dysfunction involving extraocular muscles and pupils. In this article, the prevalence, clinical presentations, and management of o...

journal_title：Muscle & nerve

authors： Evliyaoglu F,Karadag R,Burakgazi AZ

更新日期：2012-11-01 00:00:00

abstract：:We report the case of a 55-year-old man with non-small-cell lung cancer who underwent radiation, chemotherapy with carbotaxol and paclitaxel, and left upper lobe removal 2 years prior to evaluation. He was referred for disabling orthostatic hypotension (113/69 mm Hg supine and 66/47 mm Hg standing after 10 minutes) wi...

journal_title：Muscle & nerve

authors： Peltier AC,Black BK,Raj SR,Donofrio P,Robertson D,Biaggioni I

更新日期：2010-03-01 00:00:00

abstract：:Five members of the same family, along three generations, presented with hypertrophic cardiomyopathy. Neurological examination, muscle strength, electromyography, and serum creatine kinase were normal. Skeletal muscle biopsy showed abnormal lipid accumulation and carnitine deficiency. In three patients the cardiac sym...

journal_title：Muscle & nerve

authors： Bautista J,Rafel E,Martinez A,Sainz I,Herrera J,Segura L,Chinchon I

更新日期：1990-03-01 00:00:00

abstract：INTRODUCTION:We determined whether instrumenting timed functional tasks with wireless inertial motion sensors were responsive to facioscapulohumeral muscular dystrophy (FSHD) progression and movement pattern changes. METHODS:Ten individuals who were clinically affected with genetically confirmed FSHD, mean age 54 year...

journal_title：Muscle & nerve

authors： Statland JM,Karanevich A,Bruetsch A,Huisinga J

更新日期：2019-11-01 00:00:00

abstract：:To determine the contributions of neural and mechanical mechanisms to the limits in the range of motion (ROM) about a joint, we studied the effects of 30 sessions of static stretch training on the characteristics of the plantar-flexor muscles in 12 subjects. Changes in the maximal ankle dorsiflexion and the torque pro...

journal_title：Muscle & nerve

authors： Guissard N,Duchateau J

更新日期：2004-02-01 00:00:00

abstract：:As caveolin-3 deficiencies may explain persistent hyper-CK-emia, we performed CAV3 gene mutation analysis and immunohistochemistry for caveolin-3 in 31 patients with idiopathic hyper-CK-emia. In 2 of 29 patients who donated blood, variants in the CAV3 gene were detected. Although immunohistochemical analysis strongly ...

journal_title：Muscle & nerve

authors： Reijneveld JC,Ginjaar IB,Frankhuizen WS,Notermans NC

更新日期：2006-11-01 00:00:00

abstract：:To obtain normative muscle morphology data on a healthy population recruited from a population survey, we examined vastus lateralis biopsies from 58 men and 33 women, aged 26-67 years. Biopsies were measured with automated, computer-aided techniques. Data were analyzed according to gender and age, and the influence of...

journal_title：Muscle & nerve

authors： Toft I,Lindal S,Bønaa KH,Jenssen T

更新日期：2003-07-01 00:00:00

abstract：:Motor involvement in acute herpes zoster is considered rare, but its incidence is unknown. In a sample of 40 patients with acute herpes zoster of varying severity, an abnormal electromyogram (EMG) (fibrillation, positive waves, high-frequency discharges) was found in 21 (53%), suggesting extension of inflammation to t...

journal_title：Muscle & nerve

authors： Haanpää M,Häkkinen V,Nurmikko T

更新日期：1997-11-01 00:00:00

abstract：:Hindlimb ischemia for 4 h, followed by reperfusion, resulted in necrosis of most soleus muscle in euthyroid rats, whereas only slight damage occurred in hypothyroid rats. Muscle repair after transection of the tibialis anterior muscle of hypothyroid rats showed delayed debris removal, initial retardation of myotube fo...

journal_title：Muscle & nerve

authors： Ozawa J,Kawamata S,Kurosaki T,Iwamizu Y,Matsuura N,Abiko S,Kai S

更新日期：2003-05-01 00:00:00

abstract：:The extensor of the second digit of the chicken wing (EDII) is a small, fast-twitch muscle susceptible to chicken muscular dystrophy and well suited for correlated studies of the morphology and physiology of identified nerve and muscle fibers. In cross section, the dystrophic EDII shows morphological abnormalities com...

journal_title：Muscle & nerve

authors： Gunther JS,Letinsky MS

更新日期：1982-01-01 00:00:00

abstract：:The connective tissue diseases, such as rheumatoid arthritis, Sjögren's syndrome, systemic lupus erythematosus, systemic sclerosis, and vasculitis, may cause various disorders of the peripheral nervous system. In this review, the clinical effects of the connective tissues diseases on nerve and muscle are examined with...

journal_title：Muscle & nerve

authors： Rosenbaum R

更新日期：2001-02-01 00:00:00

abstract：INTRODUCTION:POEMS (polyneuropathy, organomegaly, endocrinopathy, monoclonal plasma cell disorder, and skin changes) syndrome may be mistaken for chronic inflammatory demyelinating polyneuropathy (CIDP). Differentiating the 2 entities is crucial, as there are major treatment implications. METHODS:We compared platelet ...

journal_title：Muscle & nerve

authors： Naddaf E,Dispenzieri A,Mandrekar J,Mauermann ML

更新日期：2015-10-01 00:00:00

abstract：:Techniques to estimate motor unit number (MUNE) measure the number of functioning motor units in a muscle. As amyotrophic lateral sclerosis (ALS) is characterized by progressive motor unit loss, this disease offers an ideal setting for the use of MUNE. Statistical MUNE was employed in a recent multicenter trial of cre...

journal_title：Muscle & nerve

authors： Shefner JM,Cudkowicz ME,Zhang H,Schoenfeld D,Jillapalli D,Northeast ALS Consortium.

更新日期：2007-02-01 00:00:00

abstract：:Many post-polio patients develop new muscle weakness decades after the initial illness. However, its mechanism and treatment are controversial. The purpose of this study was to test the hypotheses that: (1) after strength training, post-polio patients show strength improvement comparable to that seen in the healthy el...

journal_title：Muscle & nerve

authors： Chan KM,Amirjani N,Sumrain M,Clarke A,Strohschein FJ

更新日期：2003-03-01 00:00:00

abstract：:We investigated 16 patients with Fabry's disease (eight hemizygous men and eight heterozygous women) in one family. We used constant current perception threshold (CPT) testing, which evaluated three major sensory nerve fiber populations, to assess subjective complaints of pain and paresthesias. We also examined clinic...

journal_title：Muscle & nerve

authors： Ro LS,Chen ST,Tang LM,Hsu WC,Chang HS,Huang CC

更新日期：1999-11-01 00:00:00

abstract：INTRODUCTION:We evaluated diagnostic value of sensory tests during recovery from iatrogenic sensory neuropathy using intraoperatively verified nerve injury with subjective symptoms as gold standard. METHODS:Inferior alveolar nerves were monitored neurophysiologically throughout mandibular osteotomy in 19 patients. Sen...

journal_title：Muscle & nerve

authors： Teerijoki-Oksa T,Forssell H,Jääskeläinen SK

更新日期：2019-03-01 00:00:00

abstract：INTRODUCTION:We evaluated anatomic variations of distal branches of the superficial fibular sensory nerve electrophysiologically. METHODS:Orthodromic nerve conduction studies (NCS) of the first and third branches (M-I, M-III) of the medial dorsal cutaneous nerve and the fourth and fifth branches (I-IV, I-V) of the int...

journal_title：Muscle & nerve

authors： Hemmi S,Kurokawa K,Nagai T,Kushida R,Okamoto T,Murakami T,Sunada Y

更新日期：2017-01-01 00:00:00

abstract：INTRODUCTION:Nerve enlargement (NE) is described in inflammatory and inherited neuropathies. It is commonly multifocal and moderate in the former and homogeneous and generalized in the latter. We describe 4 cases of massive NE in inflammatory neuropathies. METHODS:Patients presented with symptoms of polyneuropathy tha...

journal_title：Muscle & nerve

authors： Grimm A,Schubert V,Axer H,Ziemann U

更新日期：2017-02-01 00:00:00

abstract：:Normal motor units (MUs) were simulated and their architecture altered to simulate the changes produced by myopathy. The concentric needle electromyographic recordings of motor unit action potentials (MUAPs) from the MUs were then also simulated. These simulated MUAPs showed features that are seen in myopathy: normal ...

journal_title：Muscle & nerve

authors： Nandedkar SD,Sanders DB

更新日期：1989-03-01 00:00:00

abstract：:We observed a marked prolongation of the transcranially evoked silent period during continuous intrathecal administration of high doses of the gamma-aminobutyric acid (GABA)B receptor agonist baclofen in a patient with generalized dystonia. Size of motor evoked potentials and central conduction time remained unchanged...

journal_title：Muscle & nerve

authors： Siebner HR,Dressnandt J,Auer C,Conrad B

更新日期：1998-09-01 00:00:00

abstract：:We reviewed results of immunotherapy in patients with demyelinating motor neuropathy (DMN), and found that patients over 50 years of age at onset responded poorly, and younger patients responded variably to intervention. We suggest that patients with DMN be given a guarded prognosis, particularly if >50 years of age a...

journal_title：Muscle & nerve

authors： Markson L,Janzen D,Bril V

更新日期：1998-12-01 00:00:00

abstract：:Doxorubicin is a chemotherapeutic agent prescribed for a variety of tumors. While undergoing treatment, patients exhibit frequent symptoms that suggest respiratory muscle weakness. Cancer patients can receive doxorubicin chemotherapy through either intravenous (IV) or intraperitoneal (IP) injections. We hypothesized t...

journal_title：Muscle & nerve

authors： Gilliam LA,Moylan JS,Callahan LA,Sumandea MP,Reid MB

更新日期：2011-01-01 00:00:00

abstract：:A common misconception attributes sparing of the flexor carpi ulnaris (FCU) in ulnar neuropathy at the elbow (UNE) to its innervating branch arising "at or above the elbow." We examined the relationship of FCU branches to the medial epicondyle (ME) and humeroulnar aponeurotic arcade (HUA) in 30 cadaver elbows. In only...

journal_title：Muscle & nerve

authors： Campbell WW,Pridgeon RM,Riaz G,Astruc J,Leahy M,Crostic EG

更新日期：1989-12-01 00:00:00