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1 tal muscle health and is commonly reduced in neuromuscular disease.
2 rvous system (CNS) to treat neurological and neuromuscular disease.
3 to enhance airway clearance in patients with neuromuscular disease.
4 expansions of certain repeat sequences cause neuromuscular disease.
5 ind its preferential targeting or sparing in neuromuscular disease.
6 viduals with early-onset torsion dystonia, a neuromuscular disease.
7 y and quality of life for many patients with neuromuscular disease.
8 tes < or =37 wks gestation and patients with neuromuscular disease.
9 in 25 stable patients with various forms of neuromuscular disease.
10 s assessed in patients with various forms of neuromuscular disease.
11 ally distinct from other loci known to cause neuromuscular disease.
12 additional mutations in CACNL1A3 that cause neuromuscular disease.
13 es < or = 37 wks gestation and patients with neuromuscular disease.
14 motor function after spinal injury or during neuromuscular disease.
15 egulator of MCU complex, are associated with neuromuscular disease.
16 hese activities, and lack thereof results in neuromuscular disease.
17 s were made in the last year in the field of neuromuscular disease.
18 l input is otherwise diminished secondary to neuromuscular disease.
19 s that lead to the SMA pathology and related neuromuscular diseases.
20 o progressive muscle dysfunction observed in neuromuscular diseases.
21 stigations for the differential diagnosis of neuromuscular diseases.
22 ex implicated in the pathogenesis of several neuromuscular diseases.
23 anges in processes, suggesting therapies for neuromuscular diseases.
24 erns observed for a variety of metabolic and neuromuscular diseases.
25 se ways of arresting, curing, and preventing neuromuscular diseases.
26 lain the unique response of these muscles in neuromuscular diseases.
27 ssion and are linked with several hereditary neuromuscular diseases.
28 n suggested that these are variants of other neuromuscular diseases.
29 bility that it is a allelic variant of other neuromuscular diseases.
30 chronic pain, epilepsy, certain cancers, and neuromuscular diseases.
31 ay for developing RNA-based therapeutics for neuromuscular diseases.
32 nexpected, novel therapy for DMD and related neuromuscular diseases.
33 d to identify therapies for CNM2 and related neuromuscular diseases.
34 significant role in controlling the onset of neuromuscular diseases.
35 e a wide range of clinical disorders, mainly neuromuscular diseases.
36 uspected genes responsible for heterogeneous neuromuscular diseases.
37 d cardiac troponin T (cTnT) in patients with neuromuscular diseases.
38 ifting the paradigm in treating multifaceted neuromuscular diseases.
39 overlap of signs and symptoms found in other neuromuscular diseases.
40 , distressing symptom of cardiopulmonary and neuromuscular diseases.
41 chenne muscular dystrophy and possibly other neuromuscular diseases.
42 analogs for the therapeutic intervention of neuromuscular diseases.
43 Agrn mutations and potentially other related neuromuscular diseases.
44 ng has been implicated in the progression of neuromuscular diseases.
45 5 had encephalitis (3 with concomitant acute neuromuscular disease), 2 had transverse myelitis, and 1
48 eptors are important therapeutic targets for neuromuscular disease, addiction, epilepsy and for neuro
51 bly, using both surgical denervation and the neuromuscular disease amyotrophic lateral sclerosis (ALS
52 binding protein that forms aggregates in the neuromuscular disease, amyotrophic lateral sclerosis, an
53 h disease (CMT) is the most common inherited neuromuscular disease and is characterized by considerab
57 ein abnormalities have been found in several neuromuscular diseases and in some instances seem to be
59 X-linked mental retardation (XLMR), X-linked neuromuscular diseases and susceptibility loci for schiz
60 lderly, is often associated with generalized neuromuscular disease, and occurs with a high prevalence
61 COPD], a non-COPD-related pulmonary process, neuromuscular disease, and status postextubation), and w
62 o the investigation of paediatric peripheral neuromuscular disease, and this review highlights its co
63 d, such as myopathies, muscular dystrophies, neuromuscular diseases, and age-related muscle atrophy.
64 rrors of metabolism, malformation syndromes, neuromuscular diseases, and familial isolated CM disorde
65 ate to the potential correction of monogenic neuromuscular diseases; and to highlight scientific and
66 smorphic features or multiple malformations, neuromuscular disease, apparently isolated CM, and patho
67 metabolic disease, dysmorphic syndromes, and neuromuscular disease are important to establish, partic
68 and missplicing in a common non-neurological/neuromuscular disease associated with a repeat expansion
69 to therapy of multiple sclerosis, and other neuromuscular diseases, based on agents modulating endoc
70 d neural input results in muscle weakness in neuromuscular disease because of a reduction in the dens
72 function mutations in human SMN1 result in a neuromuscular disease called spinal muscular atrophy.
74 chenne's muscular dystrophy (DMD) is a fatal neuromuscular disease caused by absence of dystrophin.
75 tonic dystrophy type 2 (DM2) is an incurable neuromuscular disease caused by expanded CCUG repeats th
76 lar dystrophy is a progressive and incurable neuromuscular disease caused by genetic and biochemical
79 ne muscular dystrophy (DMD) is a devastating neuromuscular disease caused by mutations in the gene en
80 Spinal muscular atrophy (SMA) is a recessive neuromuscular disease caused by mutations in the human s
81 ular atrophy (SMA) is an autosomal recessive neuromuscular disease caused by mutations in the surviva
82 yotonic Dystrophy type 1 (DM1) is a dominant neuromuscular disease caused by nuclear-retained RNAs co
83 bar muscular atrophy (SBMA) is a progressive neuromuscular disease caused by polyglutamine expansion
86 ne muscular dystrophy (DMD) is a progressive neuromuscular disease, caused by an absence of dystrophi
87 ystrophies type 1 (DM1) and type 2 (DM2) are neuromuscular diseases, caused by accumulation of CUG an
88 atrophy (SBMA) is a progressive, late onset neuromuscular disease causing motor dysfunction in men.
89 Myasthenia gravis is a chronic, autoimmune, neuromuscular disease characterized by fluctuating weakn
90 phic lateral sclerosis (ALS) is a late-onset neuromuscular disease characterized by progressive loss
91 Myotonic dystrophy type 1 (DM1) is a complex neuromuscular disease characterized by skeletal muscle w
93 inal and bulbar muscular atrophy (SBMA) is a neuromuscular disease characterized by the loss of lower
95 ons in TWINKLE are associated with heritable neuromuscular diseases characterized by deletions in the
96 postsynaptic AChRs, may underlie symptoms of neuromuscular diseases characterized by reduced AChRs, s
98 conclude that patients with various forms of neuromuscular disease develop reductions in respiratory
99 uced neural input by surgical denervation or neuromuscular diseases dissociates HDAC4 from the NMJ an
100 owing keywords: genome editing, CRISPR-Cas9, neuromuscular disease, Duchenne muscular dystrophy, spin
101 to 92 years old, without a known history of neuromuscular disease, exhibited at mtDNA replication co
103 e and postoperative complications, including neuromuscular diseases, genetic syndromes, traumatic ner
104 ly 2006 and used the methods of the Cochrane Neuromuscular Disease Group to extract and synthesize da
105 e diagnosis of sleep-disordered breathing in neuromuscular diseases, identifying sleep-disordered bre
106 ular dystrophy type 1A (MDC1A) is a dramatic neuromuscular disease in which crippling muscle weakness
107 ) is a devastating, and currently incurable, neuromuscular disease in which oxidative stress and mito
108 me-editing-meditated correction of monogenic neuromuscular diseases in cultured cells and animal mode
109 as a paradigm for therapeutic approaches to neuromuscular disease, in which role it has proved espec
110 rmation is involved in many neurological and neuromuscular diseases including Fragile X syndrome and
111 etabolism plays an important role in several neuromuscular diseases including hereditary spastic para
113 could be applied to the treatment of related neuromuscular diseases, including spinal muscular atroph
115 mon cause of early onset primary dystonia, a neuromuscular disease, is a glutamate deletion (DeltaE)
116 otonic dystrophy (DM), an autosomal dominant neuromuscular disease, is caused by a CTG-repeat expansi
117 scular atrophy (SMA), an autosomal recessive neuromuscular disease, is the leading monogenic cause of
119 ng malformations, interstitial lung disease, neuromuscular disease, liver disease, chromosomal abnorm
121 Muscle weakness, the most common symptom of neuromuscular disease, may result from muscle dysfunctio
122 human mitochondrial genome are implicated in neuromuscular diseases, metabolic defects, and aging.
125 ine underlies its use in the therapy for the neuromuscular diseases myasthenic syndrome of Lambert-Ea
127 athogenesis model was proposed first for the neuromuscular disease myotonic dystrophy (DM), which is
133 he Medical Research Council (MRC) Centre for Neuromuscular Diseases, National Hospital for Neurology
135 primary cause of respiratory dysfunction in neuromuscular disease (NMD), but structural abnormalitie
136 y (FSHD) may be a new member of the class of neuromuscular diseases (NMD) due to defects in the nucle
139 linked myotubular myopathy (MTM) is a severe neuromuscular disease of infancy caused by mutations of
140 ement of spinal deformities in patients with neuromuscular diseases or other underlying comorbidities
141 ement of spinal deformities in patients with neuromuscular diseases or other underlying comorbidities
144 h (U)-snRNAs, may contribute to the specific neuromuscular disease phenotype associated with SMA.
146 se conditions were undiagnosed on a targeted neuromuscular disease-related gene panel did not improve
148 ite of significant advances, therapy in many neuromuscular diseases remains far from satisfactory.
150 of motor neurons (MNs) is a hallmark of the neuromuscular disease spinal muscular atrophy (SMA); how
152 rug that could treat a devastating childhood neuromuscular disease, spinal muscular atrophy (SMA).
153 r curing many monogenic disorders, including neuromuscular diseases such as Duchenne muscular dystrop
154 MJ formation may have implications for human neuromuscular diseases such as myasthenia syndromes.
156 the identification of corrective therapy for neuromuscular diseases, such as spinal muscular atrophy
158 uscular dystrophy (DMD) is a fatal, X-linked neuromuscular disease that affects 1 boy in 3500 to 5000
159 Amyotrophic lateral sclerosis (ALS) is a neuromuscular disease that causes gradual paralysis, res
160 Duchenne muscular dystrophy is a lethal neuromuscular disease that currently has no effective th
161 nal muscular atrophy (SMA) is an often fatal neuromuscular disease that has been directly linked to t
162 ar dystrophy (FSHD) is an autosomal dominant neuromuscular disease that has been linked to deletions
163 onic dystrophy (DM) is an autosomal dominant neuromuscular disease that is associated with a (CTG)n r
164 ral sclerosis (ALS) is a progressive, lethal neuromuscular disease that is associated with the degene
165 bulbar muscular atrophy (SBMA), an X-linked neuromuscular disease that is fully manifest only in mal
166 phic lateral sclerosis (ALS) is an incurable neuromuscular disease that leads to a profound loss of l
168 Dystrophinopathies are a group of distinct neuromuscular diseases that result from mutations in the
169 E: EIM can now be applied to mouse models of neuromuscular disease to assess disease status and the e
170 20 different types of acquired and inherited neuromuscular diseases underwent full clinical assessmen
172 ular junction (NMJ) is typically affected by neuromuscular disease, whether NMJs in SBMA are similarl
173 are several variants potentially relevant to neuromuscular diseases, which initially sidetracked diag
174 otonic dystrophy type I (DM1) is a disabling neuromuscular disease with no causal treatment available
175 l myopathies define a heterogeneous group of neuromuscular diseases with neonatal or childhood hypoto
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