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1 myopathy (HIBM), an adult-onset, progressive neuromuscular disorder.
2 s a clinically and genetically heterogeneous neuromuscular disorder.
3 on mouse chromosome 6 produces a progressive neuromuscular disorder.
4 s with nemaline myopathy, another congenital neuromuscular disorder.
5 rly-tail phenotype, which is suggestive of a neuromuscular disorder.
6 nvariably fatal and clinically heterogeneous neuromuscular disorder.
7 henia gravis is a relatively rare autoimmune neuromuscular disorder.
8 ing has significant potential for therapy of neuromuscular disorders.
9 ffect of interventions or the progression of neuromuscular disorders.
10 d for better understanding of myopathies and neuromuscular disorders.
11 ibute to the clinical severity of many other neuromuscular disorders.
12 as a clinical and research tool in inherited neuromuscular disorders.
13 ates, and mutations in ChAT cause congenital neuromuscular disorders.
14 lain the effectiveness of IVIG in autoimmune neuromuscular disorders.
15 ariety of human genetic and other neural and neuromuscular disorders.
16 chondrial fusion and mitofusin-related human neuromuscular disorders.
17 e responses of these muscles in a variety of neuromuscular disorders.
18 for limb-girdle muscular dystrophy or other neuromuscular disorders.
19 hout underlying pulmonary, cardiac, or other neuromuscular disorders.
20 and to suggest candidate proteins for other neuromuscular disorders.
21 e for dysfunctional respiratory complex I in neuromuscular disorders.
22 erapeutic agent for the treatment of various neuromuscular disorders.
23 (d) add new insights to the pathogenesis of neuromuscular disorders.
24 complex are normally expressed and in other neuromuscular disorders.
25 veals COL15A1 as a candidate gene for orphan neuromuscular disorders.
26 as revealed two sigma-1R mutants involved in neuromuscular disorders.
27 ntenance in adulthood result in debilitating neuromuscular disorders.
28 of experimental therapies for DMD and other neuromuscular disorders.
29 based drugs have entered clinical trials for neuromuscular disorders.
30 ges is activated in some forms of congenital neuromuscular disorders.
31 of therapeutics to combat muscle wasting and neuromuscular disorders.
32 er autoantibodies against muscle Ags nor any neuromuscular disorders.
33 e that may be relevant to pathophysiology of neuromuscular disorders.
34 larging the NMJ may be useful for a range of neuromuscular disorders.
35 lowing training or during the progression of neuromuscular disorders.
36 t are involved in various muscle-wasting and neuromuscular disorders.
37 ions for the development of therapeutics for neuromuscular disorders.
38 ese processes might lead to gastrointestinal neuromuscular disorders.
39 l principles of synaptogenesis as well as of neuromuscular disorders.
40 omic profile and differential involvement in neuromuscular disorders.
41 ting recent developments in the treatment of neuromuscular disorders.
42 ple framework for diagnosing and classifying neuromuscular disorders acquired in critical illness.
43 model may explain why LES is expressed as a neuromuscular disorder and can account for a clinical ha
44 creasingly recognized manifestation of these neuromuscular disorders and contribute significantly to
45 ative tool for the specialists in paediatric neuromuscular disorders and will continue to deliver imp
46 had malformation syndromes, 7.5% (n=64) had neuromuscular disorders, and 74.2% (n=634) had idiopathi
47 cent findings in NMJ formation, maintenance, neuromuscular disorders, and aging of the NMJ, focusing
48 n's Hospital of Philadelphia Infant Test for Neuromuscular Disorders, and Alberta Infant Motor Score)
50 disease (aOR, 1.46, 95% CI, 1.12-1.89), and neuromuscular disorder (aOR, 1.68; 95% CI, 1.11-2.52).An
51 disease (aOR, 5.23; 95% CI, 1.74-15.69), and neuromuscular disorder (aOR, 4.84; 95% CI, 2.02-11.58) w
52 in dermatomyositis, polymyositis, and other neuromuscular disorders appeared to be rare (4.2%, 4.5%,
55 nic dystrophy (DM1) is an autosomal dominant neuromuscular disorder associated with a (CTG)(n) expans
56 trophy type 1 (DM1) is an autosomal dominant neuromuscular disorder associated with a (CUG)n expansio
60 dies were found in myositis as well as other neuromuscular disorders, but not in healthy controls.
62 n (approximately 1:6400) autosomal recessive neuromuscular disorder caused by a paucity of the surviv
63 lbar muscular atrophy (SBMA) is an inherited neuromuscular disorder caused by a polyglutamine (polyQ)
64 yotonic dystrophy type 1 (DM1) is a dominant neuromuscular disorder caused by a trinucleotide (CTG) r
65 Slow-channel syndrome (SCS) is a progressive neuromuscular disorder caused by abnormal gating of muta
66 l muscular dystrophy (FSHD) is a progressive neuromuscular disorder caused by contractions of repetit
67 spinal and bulbar muscular atrophy (SBMA), a neuromuscular disorder caused by expansion of a CAG repe
68 muscular atrophy (SMA) is a common pediatric neuromuscular disorder caused by insufficient levels of
70 ar atrophy (SMA) is a common and often fatal neuromuscular disorder caused by low levels of the Survi
71 Duchenne muscular dystrophy (DMD) is a fatal neuromuscular disorder caused by mutations in the Dmd ge
72 uchenne muscular dystrophy (DMD) is a severe neuromuscular disorder caused by mutations in the dystro
73 GNE Myopathy is a rare recessively inherited neuromuscular disorder caused by mutations in the GNE ge
74 ular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by mutations in the surviv
76 chenne muscular dystrophy (DMD) is a genetic neuromuscular disorder caused by the absence of dystroph
77 Marie-Tooth (CMT) neuropathies are inherited neuromuscular disorders caused by a length-dependent neu
78 integrator 1 (BIN1), is a mildly progressive neuromuscular disorder characterized by abnormally centr
79 capulohumeral muscular dystrophy (FSHD) is a neuromuscular disorder characterized by an insidious ons
80 yotrophic lateral sclerosis (ALS) is a fatal neuromuscular disorder characterized by degeneration of
81 inal muscular atrophy (SMA) is a devastating neuromuscular disorder characterized by loss of spinal c
82 lbar muscular atrophy (SBMA) is an inherited neuromuscular disorder characterized by lower motor neur
83 yopathy type 6 (NEM6), an autosomal-dominant neuromuscular disorder characterized by the presence of
84 y (MMD) is an autosomal-dominant multisystem neuromuscular disorder characterized by unstable nucleot
85 , is used for treatment of a myriad of human neuromuscular disorders characterized by involuntary mus
86 neal (SP) syndrome encompasses heterogeneous neuromuscular disorders characterized by weakness in the
87 en's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) motor function tes
89 very 4 weeks plus tremelimumab 1 mg/kg), and neuromuscular disorder (durvalumab 20 mg/kg every 4 week
90 had fragmented care; 37.5% of 359 unplanned neuromuscular disorder emergency admissions were identif
91 tant recapitulates key features of the human neuromuscular disorders enabling detailed in vivo studie
93 ic congenital myopathy, is a variably severe neuromuscular disorder for which no effective treatment
94 Proximal spinal muscular atrophy (SMA) is a neuromuscular disorder for which there is no available t
95 Myotonic dystrophy (DM) is a multi-system neuromuscular disorder for which there is no treatment.
96 how the identification of genes involved in neuromuscular disorders has led to the characterization
97 etagammadelta nAChRs, of use in treatment of neuromuscular disorders, have been hard to identify.
98 dystrophy (DM1) is the most common inherited neuromuscular disorder in adults and is considered the f
100 ter stages of several primary neurologic and neuromuscular disorders in a manner unique to each disea
102 ide repeats produce several neurological and neuromuscular disorders including Huntington disease, mu
103 recent advances in the treatment of various neuromuscular disorders including neuropathies, neuromus
104 icits in NMJ formation and maintenance cause neuromuscular disorders, including congenital myasthenic
106 of cell-based therapies for the treatment of neuromuscular disorders is obtaining the appropriate num
107 nt to progress in trials of new therapies in neuromuscular disorders is the absence of responsive out
108 Spinal muscular atrophy (SMA), a recessive neuromuscular disorder, is caused by diminished function
109 is a well-established phenomenon in several neuromuscular disorders, it is debated whether it occurs
110 ogical conditions observed in the autoimmune neuromuscular disorder Lambert-Eaton myasthenic syndrome
111 defects previously observed in an autoimmune neuromuscular disorder, Lambert-Eaton myasthenic syndrom
112 6-phosphate transaminase 1 (GFPT1) cause the neuromuscular disorder limb-girdle congenital myasthenic
113 y (FSHD) is an autosomal dominant hereditary neuromuscular disorder linked to the deletion of an inte
114 vel therapeutic reagent for the treatment of neuromuscular disorders linked to Wnt-MuSK signaling pat
115 ociated with the onset of myasthenia, common neuromuscular disorders mainly characterized by fatigabl
117 lly, histologically and genetically variable neuromuscular disorders many of which are caused by muta
118 ac troponin T (cTnT) levels in patients with neuromuscular disorders may erroneously lead to the diag
119 atic weakness is a main element, but in many neuromuscular disorders mechanical upper airway obstruct
120 Several neurological diseases-including neuromuscular disorders, movement disorders, migraine, a
121 eins emphasize the role of these proteins in neuromuscular disorders; mutations have been found in th
123 s of the myotubularin family cause the human neuromuscular disorders myotubular myopathy and type 4B
124 RPOSE OF REVIEW: The heterogeneous nature of neuromuscular disorders (NMDs) continues to promote slow
125 ar myopathy (MTM) is a devastating pediatric neuromuscular disorder of phosphoinositide (PIP) metabol
127 his review provides an overview of the major neuromuscular disorders of childhood with attention to r
128 ture therapy for patients with DMD and other neuromuscular disorders or with other diseases that are
129 s of patients with FSHD to those of 11 other neuromuscular disorders, paired-like homeodomain transcr
130 rrespective of the primary molecular defect, neuromuscular disorder pathological processes include di
131 t audit of unplanned hospital admissions for neuromuscular disorder patients has substantiated data f
132 United Kingdom and Netherlands indicate that neuromuscular disorder patients report their services to
136 rophy type 1 (DM1) is a dominantly inherited neuromuscular disorder resulting from expression of RNA
137 en's Hospital of Philadelphia Infant Test of Neuromuscular Disorders) scale of motor function (rangin
138 ith multiple mtDNA deletions (MIM 606075), a neuromuscular disorder sharing a spectrum of symptoms wi
140 TnT levels in Pompe disease and likely other neuromuscular disorders should be interpreted with cauti
143 nsfer may be useful for treatment of serious neuromuscular disorders such as Duchenne muscular dystro
144 capacity in ALS.SIGNIFICANCE STATEMENT Since neuromuscular disorders, such as amyotrophic lateral scl
146 c neurotransmission and may underlie several neuromuscular disorders, such as hyperekplexia, myoclonu
148 d splicing has also been identified in other neuromuscular disorders, suggesting either that diseases
149 am effectors are a major cause of a group of neuromuscular disorders, termed congenital myasthenic sy
150 l muscular atrophy is an autosomal recessive neuromuscular disorder that is caused by an insufficient
151 ar dystrophy (FSHD) is an autosomal dominant neuromuscular disorder that is characterized by extreme
152 ar dystrophy (FSHD) is an autosomal dominant neuromuscular disorder that is not due to a classical mu
154 Congenital myasthenic syndromes (CMSs) are neuromuscular disorders that can be caused by defects in
156 ance as we develop therapies to treat severe neuromuscular disorders that compromise somatic motor be
159 nic splice variants in diseases ranging from neuromuscular disorders to diabetes or cardiomyopathies.
162 uloperoneal (SP) syndromes are heterogeneous neuromuscular disorders which are characterized by weakn
163 Ds) are a heterogeneous group of genetic and neuromuscular disorders, which result in severe loss of
164 LP1 kinase-dead mice were shown to display a neuromuscular disorder with loss of motor neurons and mu
165 in nerve-muscle signaling cause a variety of neuromuscular disorders with features of ataxia, paralys
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