戻る
「早戻しボタン」を押すと検索画面に戻ります。 [閉じる]

コーパス検索結果 (１語後でソート)

通し番号をクリックするとPubMedの該当ページを表示します
1 ystrophy, facioscapulohumeral dystrophy, and limb-girdle muscular dystrophy).
2 mains in dysferlin, whose gene is mutated in limb girdle muscular dystrophy.
3 lar dystrophy resembling what is observed in limb girdle muscular dystrophy.
4 n in mice accelerates muscle loss and causes limb girdle muscular dystrophy.
5 ible for a novel type of autosomal recessive limb girdle muscular dystrophy.
6 protease calpain-3 cause autosomal recessive limb girdle muscular dystrophy.
7 -sarcoglycan-null (scgd(-/-)) mouse model of limb-girdle muscular dystrophy.
8  for delta-sarcoglycan (scgd-/-), a model of limb-girdle muscular dystrophy.
9 nale for the development of gene therapy for limb-girdle muscular dystrophy.
10  sarcolemma and produce one of four types of limb-girdle muscular dystrophy.
11 coglycan have been identified in humans with limb-girdle muscular dystrophy.
12 a, and delta) have been found in humans with limb-girdle muscular dystrophy.
13 ns lead to four forms of autosomal recessive limb-girdle muscular dystrophy.
14 mplex may be involved in the pathogenesis of limb-girdle muscular dystrophy.
15 rburg syndrome, to mild forms of adult-onset limb-girdle muscular dystrophy.
16 d its absence is common to both Duchenne and limb girdle muscular dystrophies.
17 stitute promising therapeutic strategies for limb-girdle muscular dystrophies.
18 l emphasis on animal models for Duchenne and limb-girdle muscular dystrophies.
19 tions in the encoding genes cause congenital/limb-girdle muscular dystrophies.
20                                              Limb-girdle muscular dystrophy 1A (LGMD1A [MIM 159000])
21 exia-1 (DYX1) and TMOD4 a candidate gene for limb girdle muscular dystrophy 1B (LGMD1B).
22                 Of these, Emery-Dreifuss and Limb-Girdle muscular dystrophy 1B mainly affect striated
23 nsistent with the mild phenotype observed in Limb-girdle muscular dystrophy-1C (LGMD-1C) in humans, c
24 is of Cav-3-related muscle diseases, such as limb-girdle muscular dystrophy-1C, distal myopathy, and
25 in-3 expression in skeletal muscle resembles limb-girdle muscular dystrophy-1C.
26                                              Limb girdle muscular dystrophy 1D/1E (OMIM nomenclature
27                                              Limb girdle muscular dystrophy 2A is due to loss-of-func
28 fic family member calpain 3 (CAPN3) underlie limb-girdle muscular dystrophy 2A.
29       Adipogenic muscle loss is a feature of limb girdle muscular dystrophy 2B (LGMD2B) - a disease c
30        Mutations in the dysferlin gene cause limb girdle muscular dystrophy 2B (LGMD2B) and Miyoshi m
31 tivity in a mouse model of the human disease limb girdle muscular dystrophy 2B (LGMD2B), caused by a
32 zyme acid sphingomyelinase (ASM), and causes limb girdle muscular dystrophy 2B (LGMD2B).
33 +) signaling offers a therapeutic avenue for limb girdle muscular dystrophy 2B and Miyoshi myopathy p
34                                              Limb girdle muscular dystrophy 2B and Miyoshi myopathy w
35 We have developed a new diagnostic assay for limb girdle muscular dystrophy 2B and Miyoshi myopathy,
36 EY POINTS: Dysferlin, the protein missing in limb girdle muscular dystrophy 2B and Miyoshi myopathy,
37             Dysferlinopathies, most commonly limb girdle muscular dystrophy 2B and Miyoshi myopathy,
38 t mutations in dysferlin are responsible for limb girdle muscular dystrophy 2B and Miyoshi myopathy.
39 skeletal muscle that is mutated or absent in limb girdle muscular dystrophy 2B and Miyoshi myopathy.
40          In our analysis of 12 patients with limb girdle muscular dystrophy 2B or Miyoshi myopathy, t
41 ssive muscular dystrophies Miyoshi myopathy, limb girdle muscular dystrophy 2B, and distal anterior c
42  HDAC6 and dysferlin, the protein mutated in limb girdle muscular dystrophy 2B.
43             Deficiency of dysferlin leads to limb-girdle muscular dystrophy 2B (LGMD2B) and Miyoshi m
44 ne resulting in dysferlin-deficiency lead to limb-girdle muscular dystrophy 2B and Myoshi myopathy in
45 ein dysferlin, underlie Miyoshi myopathy and limb-girdle muscular dystrophy 2B in humans and produce
46                                              Limb-girdle muscular dystrophy 2B, Miyoshi myopathy, and
47 arries mutations in patients presenting with limb-girdle muscular dystrophy 2B.
48                          Autosomal recessive limb girdle muscular dystrophies 2C-2F represent a famil
49                                              Limb girdle muscular dystrophy 2C is caused by mutations
50                                              Limb-girdle muscular dystrophies 2C-F represent a family
51 rophy, congenital muscular dystrophy 1A, and limb girdle muscular dystrophy 2D.
52  alpha sarcoglycan (Sgca), a mouse model for limb girdle muscular dystrophy 2D.
53                                              Limb-girdle muscular dystrophy 2E/R4 is caused by mutati
54 emains unclear why mutations in Tcap lead to limb-girdle muscular dystrophy 2G (LGMD2G) in human pati
55                                              Limb girdle muscular dystrophy 2H is caused by mutations
56  32 (TRIM32) are responsible for the disease limb-girdle muscular dystrophy 2H (LGMD2H).
57 ngenital muscular dystrophy type 1C (MDC1C), limb girdle muscular dystrophy 2I (LGMD2I) and congenita
58 nerate a wide range of pathologies from mild limb girdle muscular dystrophy 2I (LGMD2I), severe conge
59 hology in FKRP P448Lneo(-) mice, a model for limb girdle muscular dystrophy 2I.
60                                              Limb-girdle muscular dystrophy 2I (LGMD2I) is caused by
61 FKRPP448L-mutant mouse representing moderate limb-girdle muscular dystrophy 2I.
62 riable clinical phenotypes, most commonly as limb-girdle muscular dystrophy 2I.
63          Human tibial muscular dystrophy and limb-girdle muscular dystrophy 2J are caused by mutation
64                              ANO5 deficit in limb girdle muscular dystrophy 2L (LGMD2L) patient cells
65  one of two previously identified disorders, limb-girdle muscular dystrophy 2L and non-dysferlin Miyo
66 various proteins known to be involved in the limb-girdle muscular dystrophies (alpha, beta, gamma, de
67 lly, we have identified an important case of limb girdle muscular dystrophy and cardiomyopathy with n
68 ng the pathogenesis of sarcoglycan deficient limb-girdle muscular dystrophies and for the development
69 t on wild type (WT) Cav3 and associates with limb-girdle muscular dystrophy and cardiomyopathy.
70 ense mutation (Thr192-->Met) in a woman with limb-girdle muscular dystrophy and cognitive impairment.
71 emonstrate that FLN2 protein localization in limb-girdle muscular dystrophy and Duchenne muscular dys
72 anging from congenital muscular dystrophy to limb-girdle muscular dystrophy and identified allelic IS
73 l intracellular Ca2+ and the muscle diseases limb-girdle muscular dystrophy and Miyoshi myopathy.
74 tinct diseases, including three new forms of limb-girdle muscular dystrophy and one form of congenita
75  viral vectors have recently started, one in limb-girdle muscular dystrophy and one in Duchenne muscu
76 y recognized later and at times resembling a limb girdle muscular dystrophy, and intermediate phenoty
77 trophy (EDMD), dilated cardiomyopathy (DCM), limb-girdle muscular dystrophy, and Hutchison-Gilford pr
78 ma-sarcoglycan result in autosomal recessive limb girdle muscular dystrophy (AR-LGMD).
79                                              Limb-girdle muscular dystrophies are a genetically diver
80                                          The limb-girdle muscular dystrophies are a group of disorder
81 mma is dramatically reduced in patients with limb-girdle muscular dystrophy arising from the loss of
82 al Specialist Commissioning Team service for limb-girdle muscular dystrophies at Newcastle (UK).
83 c hamster is a naturally occurring model for limb-girdle muscular dystrophy caused by a primary defic
84 models of muscular dystrophy, including DM1, limb-girdle muscular dystrophy, congenital merosin-defic
85                                              Limb-girdle muscular dystrophy D1 (LGMDD1) is a rare, do
86 c conduction-system disease, and adult-onset limb-girdle muscular dystrophy (FDC, conduction disease,
87 uscular dystrophy type 2A is the most common limb girdle muscular dystrophy form worldwide.
88  abnormalities were not found, we identified limb-girdle muscular dystrophy gene mutations affecting
89 ent a genetically distinct subset within the limb-girdle muscular dystrophy group.
90  understanding the molecular pathogenesis of limb-girdle muscular dystrophy has been gained.
91       Some patients with autosomal recessive limb-girdle muscular dystrophy have mutations in the gen
92 o sib pairs) with a predominantly late onset limb-girdle muscular dystrophy in whom an absence of mer
93 w of the four commonest clinical categories (limb girdle muscular dystrophy, inherited peripheral neu
94                                              Limb-girdle muscular dystrophy is a class of disorders e
95 stroglycan causes an array of congenital and limb girdle muscular dystrophies known as dystroglycanop
96           Dysferlin, the gene product of the limb girdle muscular dystrophy (LGMD) 2B locus, encodes
97        Duchenne muscular dystrophy (DMD) and limb girdle muscular dystrophy (LGMD) 2C-F result from t
98                                              Limb girdle muscular dystrophy (LGMD) 2F is caused by mu
99 pes including Walker-Warburg syndrome (WWS), limb girdle muscular dystrophy (LGMD) 2I and congenital
100 feature of four types of autosomal recessive limb girdle muscular dystrophy (LGMD) is that mutations
101                PTP dysregulation is found in limb girdle muscular dystrophy (LGMD) type 2B myoblasts
102  involvement, to relatively mild adult onset limb girdle muscular dystrophy (LGMD).
103                           Autosomal dominant limb girdle muscular dystrophy (LGMD-1C) in humans is du
104 down-regulated in patients with this form of limb girdle muscular dystrophy (LGMD-1C).
105                                              Limb-girdle muscular dystrophies (LGMD) are a heterogene
106 eneity which has long been recognized in the limb-girdle muscular dystrophies (LGMD) has been shown t
107                                          The limb-girdle muscular dystrophies (LGMD) have recently un
108                        For adults with FSHD, Limb-girdle muscular dystrophy (LGMD) and Becker muscula
109 rcoglycan complex is known to be involved in limb-girdle muscular dystrophy (LGMD) and is composed of
110                                Four types of limb-girdle muscular dystrophy (LGMD) are known to be ca
111  patients from two unrelated families with a limb-girdle muscular dystrophy (LGMD) phenotype carrying
112 s in POMT2 have also been linked to a milder limb-girdle muscular dystrophy (LGMD) phenotype, named L
113                                              Limb-girdle muscular dystrophy (LGMD) type R4/2E is caus
114 ereditary inclusion body myopathy (hIBM) and limb-girdle muscular dystrophy (LGMD), are a genetically
115                       LGMD2L is a subtype of limb-girdle muscular dystrophy (LGMD), caused by recessi
116 in a family of 4 with cardiac arrhythmia and limb-girdle muscular dystrophy (LGMD).
117                           Autosomal dominant limb-girdle muscular dystrophy (LGMD-1C) in humans is du
118 dentified a novel autosomal dominant form of limb-girdle muscular dystrophy (LGMD-1C) in humans that
119 cation of a new locus for autosomal dominant limb-girdle muscular dystrophy (LGMD1) on 7q.
120 ent expressing an autosomal dominant form of limb girdle muscular dystrophy (LGMD1A).
121 mple, in the diagnosis of autosomal dominant limb-girdle muscular dystrophy (LGMD1A), it is not alway
122 ases, including Emery-Dreifuss (EDMD2/3) and Limb-Girdle muscular dystrophy (LGMD1B).
123 patients with sarcoglycanopathies, which are limb-girdle muscular dystrophies (LGMD2C-2F) caused by m
124                             The other 18 had limb girdle muscular dystrophy (LGMD2I).
125 omprise four subtypes of autosomal recessive limb-girdle muscular dystrophies (LGMDR3, LGMDR4, LGMDR5
126 include four subtypes of autosomal recessive limb-girdle muscular dystrophies (LGMDR3, LGMDR4, LGMDR5
127 arcoglycanopathies are recessively inherited limb-girdle muscular dystrophies (LGMDRs), in which the
128                          Autosomal recessive limb-girdle muscular dystrophies (LGMDs) are genetically
129     Another group of MD's referred to as the limb-girdle muscular dystrophies (LGMDs) can affect boys
130 -to-date analysis of current knowledge about limb-girdle muscular dystrophies (LGMDs).
131 her types of muscular dystrophies, including limb-girdle muscular dystrophies (LGMDs).
132 l recessive muscular dystrophy to the milder limb-girdle muscular dystrophies (LGMDs).
133 ts presented as an adult or adolescent-onset limb-girdle muscular dystrophy, one presented with isola
134 rotein that may be a good candidate gene for limb-girdle muscular dystrophy or other neuromuscular di
135 nderlying the molecular mechanism of several limb-girdle muscular dystrophies, particularly those whe
136 ly step in the diagnostic algorithm of adult limb-girdle muscular dystrophy patients.
137 e dystrophin-glycoprotein complex, produce a limb-girdle muscular dystrophy phenotype; however, the p
138 tions in these genes might also cause milder limb-girdle muscular dystrophy phenotypes.
139                                              Limb-girdle muscular dystrophy R1 (LGMD R1) is caused by
140                                              Limb-Girdle Muscular Dystrophy R1/2A (LGMD R1/2A) is cau
141            Mutations in ANO5 (TMEM16E) cause limb-girdle muscular dystrophy R12.
142                              iMyoblasts from Limb-Girdle Muscular Dystrophy R7 and R9 and Walker Warb
143 henne muscular dystrophy or various forms of limb-girdle muscular dystrophies respectively.
144 ption of the cardiac involvement in forms of limb girdle muscular dystrophies secondary to abnormal g
145                    Miyoshi myopathy (MM) and limb-girdle muscular dystrophy subtype 2B (LGMD2B) map t
146 uscular dystrophies ranging from adult onset limb girdle muscular dystrophies to severe congenital fo
147 uscular dystrophies ranging from adult onset limb girdle muscular dystrophies to severe congenital fo
148  a broad spectrum of disorders, ranging from limb girdle muscular dystrophy to Walker-Warburg syndrom
149                                              Limb Girdle Muscular Dystrophies type 2I (LGMD2I), a rec
150    The protein dysferlin, the product of the Limb Girdle Muscular Dystrophy type 2 locus, has been sh
151 ease calpain 3 (CAPN3) result in the disease limb girdle muscular dystrophy type 2A (LGMD2A).
152                                 Diagnosis of limb girdle muscular dystrophy type 2A can be complex du
153                                              Limb girdle muscular dystrophy type 2A is the most commo
154 enders patients deficient in calpain 3 as in limb girdle muscular dystrophy type 2A, albeit in a mild
155 akness was generally milder than observed in limb girdle muscular dystrophy type 2A, but affected the
156 PN3 result in an autosomal recessive form of limb girdle muscular dystrophy type 2A.
157 cle function, since mutations in CAPN3 cause limb girdle muscular dystrophy type 2A.
158 tease calpain 3 (C3), the protein mutated in limb girdle muscular dystrophy type 2A.
159                                              Limb girdle muscular dystrophy type 2B and Miyoshi myopa
160        Mutations in the dysferlin gene cause limb girdle muscular dystrophy type 2B and Miyoshi myopa
161 ficiency of the dysferlin protein results in limb girdle muscular dystrophy type 2B and Miyoshi myopa
162 rlin, a member of the ferlin family, lead to limb girdle muscular dystrophy type 2B and Myoshi myopat
163  be therapeutically useful for patients with limb girdle muscular dystrophy type 2B.
164 oglycan (delta sgc), a mouse model for human limb girdle muscular dystrophy type 2F.
165 or several hereditary disorders that include limb girdle muscular dystrophy type 2H (LGMD2H), sarcotu
166 ed to two forms of muscular dystrophy called limb girdle muscular dystrophy type 2H and sarcotubular
167 nital muscular dystrophy type 1C (MDC1C) and limb girdle muscular dystrophy type 2I (LGMD2I).
168    Congenital muscular dystrophy type 1C and limb girdle muscular dystrophy type 2I are allelic, both
169 ad to both Walker-Warburg syndrome (WWS) and limb girdle muscular dystrophy type 2K (LGMD2K).
170 ions in any of the sarcoglycan genes lead to limb-girdle muscular dystrophies type 2C-2F.
171 NO5) and shows variable clinical phenotypes: limb-girdle muscular dystrophy type 12 (LGMD-R12), dista
172                                              Limb-girdle muscular dystrophy type 1A (LGMD1A) is an au
173 tations have been described in patients with limb-girdle muscular dystrophy type 1A (LGMD1A), myofibr
174 ery efforts for several disorders, including limb-girdle muscular dystrophy type 1A and the genes del
175                                              Limb-girdle muscular dystrophy type 1D (LGMD1D) is cause
176      One such example recently discovered is limb-girdle muscular dystrophy type 1D (LGMD1D), which i
177 d calpain-3 (CAPN3) the product of the human limb-girdle muscular dystrophy type 2A (LGMD2A) gene.
178 -lysosomal cysteine protease calpain 3 cause limb-girdle muscular dystrophy type 2A (LGMD2A).
179 the pathological signs in a murine model for limb-girdle muscular dystrophy type 2A after intramuscul
180 normal muscle physiology and in the study of limb-girdle muscular dystrophy type 2A in humans.
181                    Blots of muscle from nine limb-girdle muscular dystrophy type 2A patients with def
182  Genetic defects in calpain3 (CAPN3) lead to limb-girdle muscular dystrophy type 2A, a disease of the
183 the product of the gene that is defective in limb-girdle muscular dystrophy type 2A.
184 form underlie the human hereditary condition limb-girdle muscular dystrophy type 2A.
185  been identified as a novel gene involved in limb-girdle muscular dystrophy type 2B (LGMD2B) and its
186 identified which is mutated in patients with limb-girdle muscular dystrophy type 2B (LGMD2B) and with
187  gene, a gene which is also mutated in human limb-girdle muscular dystrophy type 2B (LGMD2B).
188                  Dysferlin deficiency causes limb-girdle muscular dystrophy type 2B (LGMD2B; proximal
189  to two clinically distinct muscle diseases, limb-girdle muscular dystrophy type 2B and Miyoshi myopa
190               Defects in dysferlin result in limb-girdle muscular dystrophy type 2B and Miyoshi myopa
191             The dysferlin gene is mutated in limb-girdle muscular dystrophy type 2B, Miyoshi myopathy
192 tures of the Dysferlin-null mice, a model of limb-girdle muscular dystrophy type 2B, were reversed wh
193                   One form of this disorder, limb-girdle muscular dystrophy type 2C (LGMD 2C), is pre
194 ssed gamma-sarcoglycan-null mice, a model of limb-girdle muscular dystrophy type 2C, with a Col6a2-de
195                                              Limb-girdle muscular dystrophy type 2D (LGMD 2D) is an a
196  Duchenne muscular dystrophy (DMD) patients, limb-girdle muscular dystrophy type 2D (LGMD2D) and thei
197                                              Limb-girdle muscular dystrophy type 2D (LGMD2D) is cause
198 ults in a severe form of muscular dystrophy (limb-girdle muscular dystrophy type 2D [LGMD2D]) without
199                                              Limb-girdle muscular dystrophy type 2E (LGMD 2E) is caus
200                          Autosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G) is an ad
201 patient-derived cell lines for two diseases: limb-girdle muscular dystrophy type 2G (LGMD2G)(1) and H
202 ide ligase-ubiquitin ligase mutated in human limb-girdle muscular dystrophy type 2H (LGMD2H) and Bard
203                                              Limb-girdle muscular dystrophy type 2H (LGMD2H) and sarc
204 RIM32) cause two seemingly diverse diseases: limb-girdle muscular dystrophy type 2H (LGMD2H) or sarco
205 linically separate diseases, one of which is Limb-girdle muscular dystrophy type 2H (LGMD2H).
206 letal muscle and is orthologous to the human limb-girdle muscular dystrophy type 2H disease gene Trim
207 nally, mutations in the FKRP gene also cause limb-girdle muscular dystrophy type 2I (LGMD2I), a consi
208 sociated with FKRP mutations range from mild limb-girdle muscular dystrophy type 2I with predominantl
209 alleles in biopsies of 6 patients, 3 with an limb-girdle muscular dystrophy type 2J (LGMD2J) phenotyp
210 ked to several clinical phenotypes including limb-girdle muscular dystrophy type 2L and Miyoshi myopa
211 JB6 cause a late-onset muscle disease termed limb-girdle muscular dystrophy type D1 (LGMDD1), which i
212 a protein aggregation-linked myopathy termed Limb-Girdle Muscular Dystrophy Type D1 (LGMDD1).
213                                              Limb-girdle muscular dystrophy type R25 (LGMDR25) is cau
214                                              Limb-girdle muscular dystrophy, type 2A (LGMD 2A), is an
215 lasting alpha-sarcoglycan gene expression in limb-girdle muscular dystrophy, type 2D (LGMD2D) subject
216 phy, facioscapulohumeral muscular dystrophy, limb-girdle muscular dystrophies types 2A and 2B, Miyosh
217                                              Limb-girdle muscular dystrophy types 2E and F are charac
218  is observed in patients with other forms of limb-girdle muscular dystrophy where dystrophin and the
219                                              Limb girdle muscular dystrophy, which was described for
220 eport that SNUPN variants are a new cause of limb girdle muscular dystrophy with specific clinical, h
221 typic spectrum of GMPPB mutations to include limb-girdle muscular dystrophies with adult onset with o
222 mutations are responsible for congenital and limb-girdle muscular dystrophies with hypoglycosylation
223                  Here we review each form of limb-girdle muscular dystrophy with attention to molecul
224 e most severe form of dystroglycanopathy, to limb-girdle muscular dystrophy with cognitive defects.
225 e limited to patients with Duchenne-like and limb-girdle muscular dystrophy with normal dystrophin an
226 and structural eye defects to a mild form of limb-girdle muscular dystrophy with onset in adult life
227 the prevalence among patients with proximal (limb-girdle) muscular dystrophy with a later onset was 6
228 lities and intellectual delay to adult-onset limb-girdle muscular dystrophies without mental retardat

 
Page Top