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1 hese activities, and lack thereof results in neuromuscular disease.
2 s were made in the last year in the field of neuromuscular disease.
3 l input is otherwise diminished secondary to neuromuscular disease.
4 tal muscle health and is commonly reduced in neuromuscular disease.
5 p and administer systemic therapies for this neuromuscular disease.
6 to enhance airway clearance in patients with neuromuscular disease.
7 expansions of certain repeat sequences cause neuromuscular disease.
8 ind its preferential targeting or sparing in neuromuscular disease.
9 ution about JNK antagonism in this pediatric neuromuscular disease.
10 viduals with early-onset torsion dystonia, a neuromuscular disease.
11 y and quality of life for many patients with neuromuscular disease.
12 tes < or =37 wks gestation and patients with neuromuscular disease.
13 in 25 stable patients with various forms of neuromuscular disease.
14 s assessed in patients with various forms of neuromuscular disease.
15 ally distinct from other loci known to cause neuromuscular disease.
16 additional mutations in CACNL1A3 that cause neuromuscular disease.
17 es < or = 37 wks gestation and patients with neuromuscular disease.
18 population and in patients with adult-onset neuromuscular disease.
19 r Dystrophy (DMD) is a progressive and fatal neuromuscular disease.
20 -of-function mutations also cause hereditary neuromuscular disease.
21 genic mutant K141E, which is associated with neuromuscular disease.
22 infiltration' that was linked to ageing and neuromuscular disease.
23 ion for respiratory failure among those with neuromuscular disease.
24 rophy is a progressive and ultimately lethal neuromuscular disease.
25 G) is a rare, autoimmune, antibody-mediated, neuromuscular disease.
26 se interactors, ARHGEF10, is also mutated in neuromuscular disease.
27 recognized as a vulnerable site in aging and neuromuscular disease.
28 ated with Mononeuritis of lower limb, a rare neuromuscular disease.
29 -RhoA interactions can lead to TRPV4-related neuromuscular disease.
30 rvous system (CNS) to treat neurological and neuromuscular disease.
31 motor function after spinal injury or during neuromuscular disease.
32 ents from seven families presenting juvenile neuromuscular disease.
33 egulator of MCU complex, are associated with neuromuscular disease.
34 d to identify therapies for CNM2 and related neuromuscular diseases.
35 significant role in controlling the onset of neuromuscular diseases.
36 e a wide range of clinical disorders, mainly neuromuscular diseases.
37 uspected genes responsible for heterogeneous neuromuscular diseases.
38 d cardiac troponin T (cTnT) in patients with neuromuscular diseases.
39 ifting the paradigm in treating multifaceted neuromuscular diseases.
40 overlap of signs and symptoms found in other neuromuscular diseases.
41 tabolism have been reported for a variety of neuromuscular diseases.
42 , distressing symptom of cardiopulmonary and neuromuscular diseases.
43 analogs for the therapeutic intervention of neuromuscular diseases.
44 Agrn mutations and potentially other related neuromuscular diseases.
45 sitive to change in rare, slowly progressive neuromuscular diseases.
46 ng has been implicated in the progression of neuromuscular diseases.
47 s that lead to the SMA pathology and related neuromuscular diseases.
48 o progressive muscle dysfunction observed in neuromuscular diseases.
49 stigations for the differential diagnosis of neuromuscular diseases.
50 ex implicated in the pathogenesis of several neuromuscular diseases.
51 anges in processes, suggesting therapies for neuromuscular diseases.
52 erns observed for a variety of metabolic and neuromuscular diseases.
53 se ways of arresting, curing, and preventing neuromuscular diseases.
54 lain the unique response of these muscles in neuromuscular diseases.
55 needle electrical impedance to patients with neuromuscular diseases.
56 ssion and are linked with several hereditary neuromuscular diseases.
57 n suggested that these are variants of other neuromuscular diseases.
58 bility that it is a allelic variant of other neuromuscular diseases.
59 ept for gene therapy approaches for dominant neuromuscular diseases.
60 ing developed for treatment of patients with neuromuscular diseases.
61 of exon-skipping therapies for DMD and other neuromuscular diseases.
62 aired diaphragm activation is common in many neuromuscular diseases.
63 g MCI subunits cause severe neurological and neuromuscular diseases.
64 t cause multiple hereditary neurological and neuromuscular diseases.
65 into the contribution of myoblast fusion to neuromuscular diseases.
66 ss-comparison and high-throughput studies in neuromuscular diseases.
67 on and therapeutic efficacy in DMD and other neuromuscular diseases.
68 ody and their dysfunction underlies numerous neuromuscular diseases.
69 in translational studies using dog models of neuromuscular diseases.
70 both dominant and recessive neurological and neuromuscular diseases.
71 eloping treatment solutions for degenerative neuromuscular diseases.
72 mutations in VCP cause neurodegenerative and neuromuscular diseases.
73 s may offer therapeutic promise for treating neuromuscular diseases.
74 n, but MuSK might also be protective in some neuromuscular diseases.
75 apies are currently in clinical use to treat neuromuscular diseases.
76 ing mutations responsible for many monogenic neuromuscular diseases.
77 might prove useful for the treatment of some neuromuscular diseases.
78 chenne muscular dystrophy and possibly other neuromuscular diseases.
79 chronic pain, epilepsy, certain cancers, and neuromuscular diseases.
80 ay for developing RNA-based therapeutics for neuromuscular diseases.
81 nexpected, novel therapy for DMD and related neuromuscular diseases.
82 5 had encephalitis (3 with concomitant acute neuromuscular disease), 2 had transverse myelitis, and 1
85 eptors are important therapeutic targets for neuromuscular disease, addiction, epilepsy and for neuro
88 trophy (SMA) is a severe autosomal recessive neuromuscular disease affecting children and young adult
89 bly, using both surgical denervation and the neuromuscular disease amyotrophic lateral sclerosis (ALS
90 binding protein that forms aggregates in the neuromuscular disease, amyotrophic lateral sclerosis, an
92 h disease (CMT) is the most common inherited neuromuscular disease and is characterized by considerab
94 re collectively referred to as TRPV4-related neuromuscular disease and share features of motor greate
100 our understanding of the pathophysiology of neuromuscular diseases and describe mouse models that wi
101 ein abnormalities have been found in several neuromuscular diseases and in some instances seem to be
102 heir role in managing ventilatory failure in neuromuscular diseases and other chronic disorders.
103 of non-coding repeat expansions in unsolved neuromuscular diseases and strengthens the association b
104 X-linked mental retardation (XLMR), X-linked neuromuscular diseases and susceptibility loci for schiz
105 Congenital myasthenia (CM) is a devastating neuromuscular disease, and mutations in DOK7, an adaptor
106 lderly, is often associated with generalized neuromuscular disease, and occurs with a high prevalence
107 COPD], a non-COPD-related pulmonary process, neuromuscular disease, and status postextubation), and w
108 isruption of these pathways is implicated in neuromuscular disease, and the recent development of RNA
109 o the investigation of paediatric peripheral neuromuscular disease, and this review highlights its co
110 d, such as myopathies, muscular dystrophies, neuromuscular diseases, and age-related muscle atrophy.
111 t content correlates with muscle function in neuromuscular diseases, and changes in fat content prece
112 rrors of metabolism, malformation syndromes, neuromuscular diseases, and familial isolated CM disorde
113 ed CMT, are the commonest group of inherited neuromuscular diseases, and they exhibit wide phenotypic
114 ate to the potential correction of monogenic neuromuscular diseases; and to highlight scientific and
115 smorphic features or multiple malformations, neuromuscular disease, apparently isolated CM, and patho
116 metabolic disease, dysmorphic syndromes, and neuromuscular disease are important to establish, partic
120 s and clinical abnormalities of a variety of neuromuscular diseases are well known, no curative thera
121 and missplicing in a common non-neurological/neuromuscular disease associated with a repeat expansion
122 P engagement scoring, we discovered that the neuromuscular disease-associated RBP Hnrnpa2b1 is a diff
123 expression, including the expression of many neuromuscular disease-associated RBPs, is temporally reg
124 to therapy of multiple sclerosis, and other neuromuscular diseases, based on agents modulating endoc
125 d neural input results in muscle weakness in neuromuscular disease because of a reduction in the dens
126 atrophy, offers hope not only for additional neuromuscular diseases, but also for other disorders tha
127 primary site of peripheral pathology in many neuromuscular diseases, but innervation/denervation stat
129 function mutations in human SMN1 result in a neuromuscular disease called spinal muscular atrophy.
130 enne muscular dystrophy (DMD) is an X-linked neuromuscular disease caused by a deficiency in dystroph
132 cular atrophy (SBMA) is a slowly progressing neuromuscular disease caused by a polyglutamine (polyQ)-
133 chenne's muscular dystrophy (DMD) is a fatal neuromuscular disease caused by absence of dystrophin.
134 Duchenne muscular dystrophy (DMD) is a fatal neuromuscular disease caused by deleterious mutations in
137 uchenne muscular dystrophy (DMD) is a severe neuromuscular disease caused by Dmd mutations, resulting
138 tonic dystrophy type 2 (DM2) is an incurable neuromuscular disease caused by expanded CCUG repeats th
139 lar dystrophy is a progressive and incurable neuromuscular disease caused by genetic and biochemical
141 nal muscular atrophy (SMA) is a debilitating neuromuscular disease caused by low levels of functional
145 ne muscular dystrophy (DMD) is a devastating neuromuscular disease caused by mutations in the gene en
146 Spinal muscular atrophy (SMA) is a recessive neuromuscular disease caused by mutations in the human s
147 ular atrophy (SMA) is an autosomal recessive neuromuscular disease caused by mutations in the surviva
148 yotonic Dystrophy type 1 (DM1) is a dominant neuromuscular disease caused by nuclear-retained RNAs co
149 muscular dystrophy (DMD) is a rare, X-linked neuromuscular disease caused by pathogenic variants in t
150 inal and bulbar muscular atrophy (SBMA) is a neuromuscular disease caused by polyglutamine (polyQ) ex
151 bar muscular atrophy (SBMA) is a progressive neuromuscular disease caused by polyglutamine expansion
153 ife-threatening and chronically debilitating neuromuscular disease caused by the expansion of a CTG t
155 ne muscular dystrophy (DMD) is a progressive neuromuscular disease, caused by an absence of dystrophi
156 ystrophies type 1 (DM1) and type 2 (DM2) are neuromuscular diseases, caused by accumulation of CUG an
157 atrophy (SBMA) is a progressive, late onset neuromuscular disease causing motor dysfunction in men.
159 lighted by the finding that gain-of-function neuromuscular disease-causing missense mutations cluster
160 Myasthenia gravis is a chronic, autoimmune, neuromuscular disease characterized by fluctuating weakn
162 yotrophic lateral sclerosis (ALS) is a fatal neuromuscular disease characterized by motor neuron (MN)
163 phic lateral sclerosis (ALS) is a late-onset neuromuscular disease characterized by progressive loss
164 Myotonic dystrophy type 1 (DM1) is a complex neuromuscular disease characterized by skeletal muscle w
166 inal and bulbar muscular atrophy (SBMA) is a neuromuscular disease characterized by the loss of lower
169 ons in TWINKLE are associated with heritable neuromuscular diseases characterized by deletions in the
170 postsynaptic AChRs, may underlie symptoms of neuromuscular diseases characterized by reduced AChRs, s
173 conclude that patients with various forms of neuromuscular disease develop reductions in respiratory
174 uced neural input by surgical denervation or neuromuscular diseases dissociates HDAC4 from the NMJ an
176 owing keywords: genome editing, CRISPR-Cas9, neuromuscular disease, Duchenne muscular dystrophy, spin
177 uchenne muscular dystrophy (DMD) is a severe neuromuscular disease due to loss of dystrophin, leading
178 to 92 years old, without a known history of neuromuscular disease, exhibited at mtDNA replication co
183 e and postoperative complications, including neuromuscular diseases, genetic syndromes, traumatic ner
184 ly 2006 and used the methods of the Cochrane Neuromuscular Disease Group to extract and synthesize da
185 udy, ARGX-119 has the potential to alleviate neuromuscular diseases hallmarked by impaired neuromuscu
188 e diagnosis of sleep-disordered breathing in neuromuscular diseases, identifying sleep-disordered bre
189 nary hypertension, home respiratory support, neuromuscular disease, immunodeficiency, or cancer were
190 rate that EIM is an effective tool to detect neuromuscular disease in symptomatic adult ALS zebrafish
191 ular dystrophy type 1A (MDC1A) is a dramatic neuromuscular disease in which crippling muscle weakness
192 ) is a devastating, and currently incurable, neuromuscular disease in which oxidative stress and mito
193 me-editing-meditated correction of monogenic neuromuscular diseases in cultured cells and animal mode
194 apicomplexan parasite, is a leading cause of neuromuscular diseases in dogs as well as fetal abortion
195 as a paradigm for therapeutic approaches to neuromuscular disease, in which role it has proved espec
196 rmation is involved in many neurological and neuromuscular diseases including Fragile X syndrome and
197 etabolism plays an important role in several neuromuscular diseases including hereditary spastic para
199 could be applied to the treatment of related neuromuscular diseases, including spinal muscular atroph
200 hic lateral sclerosis (ALS) is a progressive neuromuscular disease involving motor neuron death, para
201 eration-associated respiratory impairment in neuromuscular disease is a result of disruptions at mult
202 eatures and natural history of TRPV4-related neuromuscular disease is insufficient to enable rational
204 mon cause of early onset primary dystonia, a neuromuscular disease, is a glutamate deletion (DeltaE)
205 otonic dystrophy (DM), an autosomal dominant neuromuscular disease, is caused by a CTG-repeat expansi
206 scular atrophy (SMA), an autosomal recessive neuromuscular disease, is the leading monogenic cause of
207 ated spinal muscular atrophy is a hereditary neuromuscular disease leading to progressive muscle weak
208 Spinal muscular atrophy (SMA) is a severe neuromuscular disease, leading to progressive muscle wea
210 ng malformations, interstitial lung disease, neuromuscular disease, liver disease, chromosomal abnorm
212 Muscle weakness, the most common symptom of neuromuscular disease, may result from muscle dysfunctio
213 ding syndromic, metabolic, infiltrative, and neuromuscular diseases, may present with left ventricula
214 human mitochondrial genome are implicated in neuromuscular diseases, metabolic defects, and aging.
217 ine underlies its use in the therapy for the neuromuscular diseases myasthenic syndrome of Lambert-Ea
219 athogenesis model was proposed first for the neuromuscular disease myotonic dystrophy (DM), which is
225 he Medical Research Council (MRC) Centre for Neuromuscular Diseases, National Hospital for Neurology
228 primary cause of respiratory dysfunction in neuromuscular disease (NMD), but structural abnormalitie
229 y (FSHD) may be a new member of the class of neuromuscular diseases (NMD) due to defects in the nucle
235 other muscle diseases (n = 265), and without neuromuscular disease (normal, n = 106), we identified a
236 linked myotubular myopathy (MTM) is a severe neuromuscular disease of infancy caused by mutations of
237 hysiology of major human diseases, including neuromuscular diseases of childhood, ischaemia-reperfusi
238 rvival to discharge, and without progressive neuromuscular disease or malignancies were followed from
239 ement of spinal deformities in patients with neuromuscular diseases or other underlying comorbidities
240 ement of spinal deformities in patients with neuromuscular diseases or other underlying comorbidities
244 h (U)-snRNAs, may contribute to the specific neuromuscular disease phenotype associated with SMA.
248 se conditions were undiagnosed on a targeted neuromuscular disease-related gene panel did not improve
250 ite of significant advances, therapy in many neuromuscular diseases remains far from satisfactory.
254 that clinical trial design for TRPV4-related neuromuscular disease should include outcome measures th
255 hannelopathies, including inherited forms of neuromuscular disease, skeletal dysplasias and arthropat
256 eakthrough gene targeting treatments for the neuromuscular disease spinal muscular atrophy (SMA), but
257 n (SMN) protein-the loss of which causes the neuromuscular disease spinal muscular atrophy (SMA)-bind
258 of motor neurons (MNs) is a hallmark of the neuromuscular disease spinal muscular atrophy (SMA); how
260 rug that could treat a devastating childhood neuromuscular disease, spinal muscular atrophy (SMA).
261 oligonucleotides (SSOs) for the treatment of neuromuscular disease such as Duchenne muscular dystroph
262 r curing many monogenic disorders, including neuromuscular diseases such as Duchenne muscular dystrop
263 MJ formation may have implications for human neuromuscular diseases such as myasthenia syndromes.
265 t can be applied more generally to models of neuromuscular disease, such as spinal muscular atrophy,
266 thological behaviors associated with various neuromuscular diseases, such as regression of motor neur
267 the identification of corrective therapy for neuromuscular diseases, such as spinal muscular atrophy
268 ponsible for motor neuron disorders or other neuromuscular diseases, suggesting a broad phenotypic sp
270 uscular dystrophy (DMD) is a fatal, X-linked neuromuscular disease that affects 1 boy in 3500 to 5000
271 Amyotrophic lateral sclerosis (ALS) is a neuromuscular disease that causes gradual paralysis, res
272 ne muscular dystrophy (DMD) is a devastating neuromuscular disease that causes progressive muscle was
273 Duchenne muscular dystrophy is a lethal neuromuscular disease that currently has no effective th
274 nal muscular atrophy (SMA) is an often fatal neuromuscular disease that has been directly linked to t
275 ar dystrophy (FSHD) is an autosomal dominant neuromuscular disease that has been linked to deletions
276 onic dystrophy (DM) is an autosomal dominant neuromuscular disease that is associated with a (CTG)n r
277 ral sclerosis (ALS) is a progressive, lethal neuromuscular disease that is associated with the degene
278 inal muscular atrophy is a rare, progressive neuromuscular disease that is caused by low levels of fu
279 amyotrophic lateral sclerosis (ALS), a fatal neuromuscular disease that is due to motor neuron (MN) d
280 bulbar muscular atrophy (SBMA), an X-linked neuromuscular disease that is fully manifest only in mal
281 devastating, heterogeneous neurodegenerative neuromuscular disease that leads to a fatal outcome with
282 phic lateral sclerosis (ALS) is an incurable neuromuscular disease that leads to a profound loss of l
285 l muscular atrophy is a rare and progressive neuromuscular disease that, without treatment, leads to
286 n pathophysiology of gastroparesis considers neuromuscular diseases that affect nonsphincteric gastri
287 Dystrophinopathies are a group of distinct neuromuscular diseases that result from mutations in the
289 E: EIM can now be applied to mouse models of neuromuscular disease to assess disease status and the e
290 20 different types of acquired and inherited neuromuscular diseases underwent full clinical assessmen
293 ular junction (NMJ) is typically affected by neuromuscular disease, whether NMJs in SBMA are similarl
294 ) is a devastating, degenerative, paediatric neuromuscular disease which until recently was untreatab
295 are several variants potentially relevant to neuromuscular diseases, which initially sidetracked diag
296 neration, with a focus on cardiovascular and neuromuscular diseases, which share common features of i
297 otonic dystrophy type I (DM1) is a disabling neuromuscular disease with no causal treatment available
298 l myopathies define a heterogeneous group of neuromuscular diseases with neonatal or childhood hypoto
300 5% CI, 2.13-4.19], P < .001), and those with neuromuscular disease without dementia (RSV: aOR, 2.33 [