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1                                              LGMD 2B is caused by loss of dysferlin, a membrane repai
2                                              LGMD type 2C is generally associated with a more severe
3                                              LGMD-1C mutants of caveolin-3 (DeltaTFT or P --> L) were
4                                              LGMD-1C mutants of caveolin-3 behave in a dominant negat
5 pes: limb-girdle muscular dystrophy type 12 (LGMD-R12), distal muscular dystrophy type 3 (MMD3), pseu
6                   In the presence of MG-132, LGMD-1C caveolin-3 mutants accumulated within the endopl
7 served in Limb-girdle muscular dystrophy-1C (LGMD-1C) in humans, characterized by a approximately 95%
8        Limb-Girdle Muscular Dystrophy R1/2A (LGMD R1/2A) is caused by mutations in the CAPN3 gene enc
9     Limb-girdle muscular dystrophy, type 2A (LGMD 2A), is an autosomal recessive disorder that causes
10 der, limb-girdle muscular dystrophy type 2C (LGMD 2C), is prevalent in northern Africa and has been s
11      Limb-girdle muscular dystrophy type 2D (LGMD 2D) is an autosomal recessive disorder caused by mu
12      Limb-girdle muscular dystrophy type 2E (LGMD 2E) is caused by mutations in the beta-sarcoglycan
13  four patients with mental retardation and a LGMD phenotype.
14                                     Although LGMD 2A would be a feasible candidate for gene therapy,
15              But when a TmA synapses with an LGMD it also connects laterally with another TmA.
16      Using mouse models of DMD, LGMD-2C, and LGMD-2F, we demonstrate that isolated cardiac myocytes f
17 e autosomal recessive cardiac arrhythmia and LGMD, expanding the genetic causes of this heterogeneous
18 nisms underlying the pathogenesis of DMD and LGMD-1C in humans.
19  study Duchenne muscular dystrophy (DMD) and LGMD-1C, respectively, in humans.
20 overlap between the pathogenesis of hIBM and LGMD initiated by mutations in hnRNPA2B1 and DNAJB6.
21 of dysferlin, a membrane repair protein, and LGMD 2C is caused by loss of the dystrophin-associated p
22 recessive limb girdle muscular dystrophy (AR-LGMD).
23 NOS may contribute to muscle pathology in AR-LGMD with primary mutations in the sarcoglycans.
24                                      Because LGMD appears to receive distinct input projections, resp
25       Since any lateral interactions between LGMD inputs have always been inhibitory we may assume th
26 D, highlighting the clinical overlap between LGMD and other myopathies.
27 an important overlap in pathogenesis between LGMD and congenital muscular dystrophies, prompting furt
28   We screened 15 patients from the Brazilian LGMD patient population, 13 of whom followed a severe co
29 lar threshold computation was implemented by LGMD in all three species.
30 a multiplication operation is implemented by LGMD.
31 We investigated the computation performed by LGMD when it responds to approaching objects by recordin
32 he molecular defect in sarcoglycan-deficient LGMD is because of aberrant sarcoglycan complex assembly
33 hamster is a model for sarcoglycan-deficient LGMD with a deletion in the delta-sarcoglycan (delta-SG)
34            The lobula giant motion detector (LGMD) in the locust visual system is a wide-field, motio
35            The lobula giant motion detector (LGMD) is a wide-field bilateral visual interneuron in No
36 ron called the lobula giant motion detector (LGMD), the biophysical basis of this angular threshold c
37          The Lobula Giant Movement Detector (LGMD) is a higher-order visual interneuron of Orthoptera
38          The lobula giant movement detector (LGMD) is such a visual neuron in the locust Schistocerca
39          The lobula giant movement detector (LGMD) neuron in the locust visual system is part of a mo
40          The lobula giant movement detector (LGMD) responds preferentially to objects approaching on
41  neuron (the lobula giant movement detector, LGMD, of locusts) whose output firing rate in response t
42 nd the relative frequencies of the different LGMD subtypes.
43                   Using mouse models of DMD, LGMD-2C, and LGMD-2F, we demonstrate that isolated cardi
44 cted individuals from a family with dominant LGMD and vacuolar pathology identified novel candidate m
45  girdle and congenital muscular dystrophies (LGMD and CMD) are characterized by skeletal muscle weakn
46            Limb-girdle muscular dystrophies (LGMD) are a heterogeneous group of genetically determine
47 zed in the limb-girdle muscular dystrophies (LGMD) has been shown to relate to the involvement of a l
48        The limb-girdle muscular dystrophies (LGMD) have recently undergone a major reclassification a
49  recessive limb-girdle muscular dystrophies (LGMDs) are genetically heterogeneous.
50  to as the limb-girdle muscular dystrophies (LGMDs) can affect boys or girls, with different types ca
51  including limb-girdle muscular dystrophies (LGMDs).
52 the milder limb-girdle muscular dystrophies (LGMDs).
53 edge about limb-girdle muscular dystrophies (LGMDs).
54 h Limb Girdle and Becker muscular dystrophy (LGMD and BMD, respectively).
55 oduct of the limb girdle muscular dystrophy (LGMD) 2B locus, encodes a membrane-associated protein wi
56 hy (DMD) and limb girdle muscular dystrophy (LGMD) 2C-F result from the loss of dystrophin and the sa
57              Limb girdle muscular dystrophy (LGMD) 2F is caused by mutations in the delta-sarcoglycan
58 drome (WWS), limb girdle muscular dystrophy (LGMD) 2I and congenital muscular dystrophy 1C (MDC1C).
59 s with FSHD, Limb-girdle muscular dystrophy (LGMD) and Becker muscular dystrophy (BMD), strength-trai
60  involved in limb-girdle muscular dystrophy (LGMD) and is composed of at least three proteins: alpha-
61 our types of limb-girdle muscular dystrophy (LGMD) are known to be caused by mutations in distinct sa
62 al recessive limb girdle muscular dystrophy (LGMD) is that mutations in a single sarcoglycan gene res
63 ilies with a limb-girdle muscular dystrophy (LGMD) phenotype carrying a biallelic variant in SNUPN ge
64  to a milder limb-girdle muscular dystrophy (LGMD) phenotype, named LGMD type 2N (LGMD2N).
65  is found in limb girdle muscular dystrophy (LGMD) type 2B myoblasts but not in myoblasts from patien
66              Limb-girdle muscular dystrophy (LGMD) type R4/2E is caused by mutations in beta-sarcogly
67 y (hIBM) and limb-girdle muscular dystrophy (LGMD), are a genetically heterogeneous group of muscle d
68 a subtype of limb-girdle muscular dystrophy (LGMD), caused by recessive mutations in ANO5, encoding a
69 rhythmia and limb-girdle muscular dystrophy (LGMD).
70  adult onset limb girdle muscular dystrophy (LGMD).
71 mal dominant limb-girdle muscular dystrophy (LGMD-1C) in humans is due to mutations (DeltaTFT and Pro
72 mal dominant limb girdle muscular dystrophy (LGMD-1C) in humans is due to mutations within the caveol
73 nant form of limb-girdle muscular dystrophy (LGMD-1C) in humans that is due to mutations within the c
74 this form of limb girdle muscular dystrophy (LGMD-1C).
75 of the neurons that connect directly to each LGMD.
76 y-afferents (TmAs) connect the eye with each LGMD, one TmA per facet per LGMD.
77 nic mechanisms and pathways are emerging for LGMD, in particular calpainopathies, dysferlinopathies a
78 o14.6 hamster, a homologous animal model for LGMD 2F.
79 ikely to be a valid therapeutic strategy for LGMD R1.
80  the feasibility of in vivo gene therapy for LGMD patients by using AAV vectors.
81 feasibility of sarcoglycan gene transfer for LGMD using a recombinant delta-SG adenovirus in the BIO
82 tations in the 43 kDa beta-sarcoglycan gene (LGMD 2E) were originally identified in a sporadic case o
83 he genetic understanding of the limb-girdle (LGMD) and congenital (CMD) muscular dystrophies have led
84                          European and global LGMD patient registries will increase current knowledge
85 sociated with intermittent steroid dosing in LGMD 2B and 2C muscle.
86 te that dysferlin expression is perturbed in LGMD and that both mutations in the dysferlin gene and d
87                 Strikingly, the phenotype in LGMD 2B patients is highly variable, but the type of mut
88 hin the first few months of life, whereas in LGMD they can occur in late childhood, adolescence or ad
89       Twelve families had mutations in known LGMD-related genes.
90 platform provides adequate coverage of known LGMD-related genes, and identify new LGMD-related genes.
91 e muscular dystrophy (LGMD) phenotype, named LGMD type 2N (LGMD2N).
92  two lobula giant movement detector neurons (LGMDs) act as looming object detectors.
93                                          New LGMD genes have been discovered and the clinical and gen
94 f known LGMD-related genes, and identify new LGMD-related genes.
95 sosomal inhibitors, prevented degradation of LGMD-1C caveolin-3 mutants.
96 als were to improve the genetic diagnosis of LGMD, investigate whether the WES platform provides adeq
97  of SGCB variants and improving diagnosis of LGMD; we hope they enable wider use of potentially life-
98 computation was quite accurate: the error of LGMD and DCMD in estimating thetathres (3.1-11.9 degrees
99 ndiana Amish pedigrees with a milder form of LGMD.
100 GMD2D and represents the most common form of LGMD.
101  extremely rare autosomal recessive forms of LGMD was helped by a collaborative effort of neuromuscul
102                            In other forms of LGMD, proteins have been implicated which may be importa
103 pain 3 and dysferlin genes in other forms of LGMD.
104  enlarged by the description of new forms of LGMD.
105 on the disease phenotype in a mouse model of LGMD R1 (CAPN3 knockout mouse-C3KO) was studied.
106            We found that in murine models of LGMD 2B and 2C, daily prednisone dosing reduced muscle d
107 nts a novel mechanism in the pathogenesis of LGMD 2E.
108 ations for understanding the pathogenesis of LGMD-1C at a molecular level.
109 ally derived assumptions, the firing rate of LGMD and DCMD could be shown to depend on the product ps
110                       The diagnostic rate of LGMD in Australia and the relative frequencies of the di
111 athology and broaden the genetic spectrum of LGMD myopathies.
112 kely to be a valid strategy for treatment of LGMD R1.
113 ants in SNUPN are the cause of a new type of LGMD according to current definition.
114 d interesting studies have been published on LGMD.
115 two sporadic cases of severe childhood-onset LGMD were identified.
116 ients with LGMD2N and show that unlike other LGMD types, all patients had cognitive impairment.
117 istinguishing sarcoglycanopathies from other LGMDs or dystrophinopathies, which represent the most co
118 an endogenous inhibitor of myostatin) in our LGMD R1 model (C3KO) resulted in 1.5- to 2-fold increase
119 he eye with each LGMD, one TmA per facet per LGMD.
120           Limb-girdle muscular dystrophy R1 (LGMD R1) is caused by mutations in the CAPN3 gene and is
121 in different subtypes of autosomal recessive LGMD (the sarcoglycanopathies).
122              One type of autosomal recessive LGMD (type 2A) is caused by mutations in the protease ca
123  At least eight forms of autosomal recessive LGMD and three forms of autosomal dominant disease are n
124 ccount for four types of autosomal recessive LGMD of varying severity (types 2C through 2F), includin
125 n in the pathogenesis of autosomal recessive LGMD.
126 with the specific genetic variants, and that LGMD-R12 and MMD3 predominantly affect males who have a
127 of genetic transmission, we demonstrate that LGMD-1C mutants of caveolin-3 behave in a dominant-negat
128                  These results indicate that LGMD is a reliable neuron with which to study the biophy
129                           Here, we show that LGMD-1C mutants of caveolin-3 undergo ubiquitination-pro
130                  In conclusion, we show that LGMD-1C mutations lead to formation of unstable high mol
131                           We have shown that LGMD-1C mutations lead to formation of unstable aggregat
132 k of this conductance minimally affected the LGMD's response to approaching stimuli, but substantiall
133 throughout the visual pathway, assessing the LGMD's activity and that of all three successive presyna
134 in large numbers and completely covering the LGMD processes.
135 pose that these retinotopic units excite the LGMD, but inhibit each other; and that the synapses form
136  show that spike frequency adaptation in the LGMD is mediated by a Ca(2+)-dependent potassium conduct
137                                       In the LGMD model, where different doses of vector were used, M
138 reciprocal inhibitory synapses increased the LGMD's selectivity for looming over passing objects, par
139                           In this model, the LGMD multiplies postsynaptically two inputs (one excitat
140 wo-dimensional model of the responses of the LGMD based on linear summation of motion-related excitat
141 napses occur along the fine dendrites of the LGMD in the distal lobula, often in large numbers and co
142 nels act both to advance the response of the LGMD in time and to map membrane potential to firing rat
143 rns of inputs onto the dendritic tree of the LGMD, across three locust species.
144 inotopic units and along the membrane of the LGMD.
145 tory inputs within the dendritic tree of the LGMD.
146    Examining the impact of retinotopy on the LGMD's computational properties, we show that sublinear
147 al inputs impinging retinotopically onto the LGMD's dendritic fan [5-7] (Figure 1Ai).
148 activated by the approaching object onto the LGMD's dendritic tree and its membrane potential at the
149 mediately adjacent to their outputs onto the LGMD.
150                                    Thus, the LGMD's selectivity arises partially from presynaptic mec
151                Total excitatory input to the LGMD 1 and 2 comes from 131,000 and 186,000 synapses rea
152 ar velocity along the pathway leading to the LGMD based on the experimentally determined activation p
153 us to infer that the excitatory input to the LGMD is intrinsically directionally selective.
154 hat the retinotopic units presynaptic to the LGMD make synapses directly with each other and these sy
155 ther model, inhibition is presynaptic to the LGMD.
156 of the DNAJB6 gene, which resides within the LGMD locus at 7q36.
157 of the genes and pathogenic mechanism of the LGMDs will improve diagnostic processes and prognostic a
158 truct the network of input-synapses onto the LGMDs over spatial scales ranging from single synapses a
159                                        These LGMD-1C mutations lead to an approximately 95% reduction
160                                        Thus, LGMD might be an ideal model to investigate the biophysi
161 CE dysregulation as a contributing factor to LGMD R1/2A pathology.
162 unction mutations in any subunit can lead to LGMD.
163                     The largest subgroup was LGMD-R12 (52.6%), followed by pseudometabolic myopathy (
164                       The mechanism by which LGMD-1C mutants of caveolin-3 are degraded remains unkno
165 -related genes not typically associated with LGMD, highlighting the clinical overlap between LGMD and
166  POMGnT1 were detected in four patients with LGMD and no evidence of brain involvement.
167                                Patients with LGMD were ascertained retrospectively through the Instit
168                                Patients with LGMD with a Duchenne-like severity typically had a moder
169  implications for treatment of patients with LGMD-1C.
170   At last evaluation, 45.9% of patients with LGMD-R12 additionally had distal weakness in the lower l
171 ifficult-to-diagnose cohort of patients with LGMD.
172         We performed WES on 60 families with LGMDs (100 exomes).

 
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