ライフサイエンスコーパス: hereditary spastic paraplegia

1 spartin, the human gene mutated in a form of hereditary spastic paraplegia.

2 Spastin is mutated in the axonopathy hereditary spastic paraplegia.

3 e forms of amyotrophic lateral sclerosis and hereditary spastic paraplegia.

4 p60 V72I has been linked to SPG13, a form of hereditary spastic paraplegia.

5 sible for SPG3A, a common autosomal dominant hereditary spastic paraplegia.

6 sin heavy chain gene KIF5A, in a family with hereditary spastic paraplegia.

7 rious species leads to phenotypes resembling hereditary spastic paraplegia.

8 of Friedreich's ataxia, Wilson's disease and hereditary spastic paraplegia.

9 e children presenting with a complex form of hereditary spastic paraplegia.

10 paraplegia 15 (SPG15), a complicated form of hereditary spastic paraplegia.

11 ion and recapitulates phenotypic features of hereditary spastic paraplegia.

12 eing centrally involved in MND, particularly hereditary spastic paraplegia.

13 lead to neurodegenerative diseases including hereditary spastic paraplegia.

14 and emphasizes the genetic heterogeneity of hereditary spastic paraplegia.

15 trate the first causal treatment strategy in hereditary spastic paraplegia.

16 rotein spastin, is the chief gene mutated in hereditary spastic paraplegia.

17 uld be a good model system for understanding hereditary spastic paraplegia.

18 nd is considered the most frequent metabolic hereditary spastic paraplegia.

19 ron features, consistent with a diagnosis of hereditary spastic paraplegia.

20 teins lead to motor neuron diseases, such as hereditary spastic paraplegia.

21 manifestation of adolescent-onset, isolated hereditary spastic paraplegia.

22 protein spastin are the most common cause of hereditary spastic paraplegia.

23 ptoms, which define a diverse set of complex hereditary spastic paraplegias.

24 ) lead to Troyer syndrome, a form of complex hereditary spastic paraplegia(1).

25 , non-sense and splice-site) associated with hereditary spastic paraplegia 4 (HSP-SPG4) (SPG4:OMIM#18

26 ome (8q22-q23), Klip-Feil syndrome (8q22.2), hereditary spastic paraplegia (8q24), and benign adult f

27 araplegia type 5 (SPG5) is a rare subtype of hereditary spastic paraplegia, a highly heterogeneous gr

28 gly been associated with various subtypes of hereditary spastic paraplegia, a highly heterogeneous gr

29 the V72I mutation in mHsp60 causes a form of hereditary spastic paraplegia, a neurodegenerative disea

30 oducts have been identified in patients with hereditary spastic paraplegias, a diverse group of neuro

31 NT1, a gene encoding a later step, result in hereditary spastic paraplegia accompanied by intellectua

32 g, and molecular features of AP-4-associated hereditary spastic paraplegia across the age spectrum ou

33 Autosomal-dominant pure hereditary spastic paraplegia (AD-HSP) is characterized

34 neurodegenerative disease autosomal dominant-hereditary spastic paraplegia (AD-HSP).

35 ion of families with autosomal dominant pure hereditary spastic paraplegia (ADPHSP), to examine the r

36 neurodegeneration: many candidate genes for hereditary spastic paraplegia also have central roles in

37 , Parkinson's disease, Huntington's disease, hereditary spastic paraplegia, amyotrophic lateral scler

38 f a UBAP1 mutant identified in patients with hereditary spastic paraplegia and associated with disrup

39 Next, we screened a cohort of hereditary spastic paraplegia and cerebellar ataxia case

40 is mutated in genetic neurological diseases (hereditary spastic paraplegia and cerebellar ataxia).

41 introns of POLR3A to be a frequent cause of hereditary spastic paraplegia and cerebellar ataxia.

42 and endosomes.(1-4) Mutations in KIF1C cause hereditary spastic paraplegia and cerebellar dysfunction

43 sh PCYT2 as a disease gene for a new complex hereditary spastic paraplegia and confirm that etherlipi

44 levant for patients suffering from SPG4-type hereditary spastic paraplegia and explain why single ami

45 can result in neurological disorders such as hereditary spastic paraplegia and hereditary sensory neu

46 lateral sclerosis, infantile-onset ascending hereditary spastic paraplegia and juvenile primary later

47 Chinese families with an autosomal dominant hereditary spastic paraplegia and lacking mutations in k

48 uron disease: amyotrophic lateral sclerosis, hereditary spastic paraplegia and spinal muscular atroph

49 ate signaling as a candidate key pathway for hereditary spastic paraplegias and cerebellar ataxias an

50 atients with rare movement disorders such as hereditary spastic paraplegias and cerebellar ataxias re

51 38 Chinese pedigrees with autosomal dominant hereditary spastic paraplegias and lacking mutations in

52 ies for modulation of disease progression in hereditary spastic paraplegias and other MNDs.

53 ase of the bone and frontotemporal dementia, hereditary spastic paraplegia, and 1-2% of familial amyo

54 entations with spastic paraparesis mimicking hereditary spastic paraplegia, and a multiple sclerosis-

55 on's disease, amyotrophic lateral sclerosis, hereditary spastic paraplegia, and cerebellar degenerati

56 Strumpellin is mutated in the human disease hereditary spastic paraplegia, and its link to WASH sugg

57 A1, mutated in the neurodegenerative disease hereditary spastic paraplegia, and of ichthyin, mutated

58 imer's disease, hypoxia, multiple sclerosis, hereditary spastic paraplegia, and others.

59 such as amyotrophic lateral sclerosis (ALS), hereditary spastic paraplegia, and primary lateral scler

60 ensory and autonomic neuropathy, complicated hereditary spastic paraplegia, and select hereditary met

61 stin, the most common locus for mutations in hereditary spastic paraplegias, and katanin are related

62 s one of the most common autosomal recessive hereditary spastic paraplegias, and the SPG11 protein sp

63 in complex 4 (AP-4) leads to childhood-onset hereditary spastic paraplegia (AP-4-HSP): SPG47 (AP4B1),

64 Hereditary spastic paraplegias are a clinically and gene

65 Hereditary spastic paraplegias are a diverse group of de

66 The hereditary spastic paraplegias are a heterogeneous group

67 Hereditary spastic paraplegias are a large, diverse grou

68 Hereditary spastic paraplegias are characterized by lowe

69 Hereditary spastic paraplegias are heterogeneous neurode

70 Hereditary spastic paraplegias are heterogeneous neurolo

71 Hereditary spastic paraplegias are inherited neurologica

72 irst to be identified in autosomal recessive hereditary spastic paraplegia (ARHSP).

73 e cerebellar ataxias and autosomal recessive hereditary spastic paraplegias (ARHSPs) are clinically a

74 lies with autosomal dominant pure or complex hereditary spastic paraplegia, as well as in two sporadi

75 ermeable cation channel, in individuals with hereditary spastic paraplegias associated with mild inte

76 on, best classified as a complicated form of hereditary spastic paraplegia, associated with mutation

77 Mutations in REEP1 and REEP2 cause Hereditary Spastic Paraplegia, but the function of these

78 mutations in NTE have been shown to cause a Hereditary Spastic Paraplegia called NTE-related Motor-N

79 n [spastic gait (SPG)1 to -57], over half of hereditary spastic paraplegia cases are caused by pathog

80 creasingly broad pools of previously unknown hereditary spastic paraplegia causative genes and subtyp

81 Troyer syndrome is an autosomal recessive hereditary spastic paraplegia caused by mutation in the

82 are but prototypical form of childhood-onset hereditary spastic paraplegia characterized by mislocali

83 Hereditary spastic paraplegias comprise a group of clini

84 motor protein KIF5A have been implicated to hereditary spastic paraplegia disease (HSP), a lethal ne

85 in neurological disorders, particularly the hereditary spastic paraplegias, emphasizing the importan

86 Several causative genes for hereditary spastic paraplegia encode proteins with intra

87 Hereditary spastic paraplegia exhibits axonal degenerati

88 The existence of hereditary spastic paraplegia families for whom the diso

89 The V72I mutation in hereditary spastic paraplegia form SPG13 impairs Hsp60 f

90 Efforts to positionally clone the hereditary spastic paraplegia gene are in progress.

91 tion neurons, confirming the contribution of hereditary spastic paraplegia gene deficiency to subsequ

92 that the two most common autosomal recessive hereditary spastic paraplegia gene products, the SPG15 p

93 (chromosome 2p, 14q, and 15q), and x-linked hereditary spastic paraplegia have been identified.

94 in several neuromuscular diseases including hereditary spastic paraplegia, hereditary sensory neurop

95 oxylase-associated neurodegeneration, FAHN), hereditary spastic paraplegia (HSP type SPG35) and leuko

96 radation (ERLIN1, ERLIN2) are known to cause hereditary spastic paraplegia (HSP) and cerebellar ataxi

97 Kif5A, result in similar problems that cause hereditary spastic paraplegia (HSP) and Charcot-Marie-To

98 disorders of upper and lower motor neurons, hereditary spastic paraplegia (HSP) and distal hereditar

99 ent form of autosomal recessive (AR) complex hereditary spastic paraplegia (HSP) and juvenile onset a

100 Two syndromes - hereditary spastic paraplegia (HSP) and mycobacterial di

101 ta on hereditary cerebellar ataxia (HCA) and hereditary spastic paraplegia (HSP) are scarce.

102 Troyer syndrome is an autosomal recessive hereditary spastic paraplegia (HSP) caused by frameshift

103 Hereditary spastic paraplegia (HSP) comprises a group of

104 Hereditary spastic paraplegia (HSP) comprises a heteroge

105 o both Charcot-Marie-Tooth type 2 (CMT2) and Hereditary Spastic Paraplegia (HSP) depending on the aff

106 Hereditary spastic paraplegia (HSP) describes a heteroge

107 Hereditary spastic paraplegia (HSP) describes a heteroge

108 tification of an autosomal-dominant gene for hereditary spastic paraplegia (HSP) in 10 families that

109 Hereditary spastic paraplegia (HSP) is a clinically and

110 Hereditary spastic paraplegia (HSP) is a collection of n

111 Hereditary Spastic Paraplegia (HSP) is a devastating neu

112 Hereditary spastic paraplegia (HSP) is a disease in whic

113 Complex hereditary spastic paraplegia (HSP) is a genetic disorde

114 Hereditary spastic paraplegia (HSP) is a neurodegenerati

115 Hereditary spastic paraplegia (HSP) is a neurological sy

116 The commonest cause of hereditary spastic paraplegia (HSP) is mutation in the s

117 Mutant alleles of Atlastin-1 found in Hereditary Spastic Paraplegia (HSP) patients show simila

118 (TRS) is an autosomal recessive complicated hereditary spastic paraplegia (HSP) that occurs with hig

119 Hereditary spastic paraplegia (HSP) type 2 is a proteoli

120 known as KIAA0196) cause autosomal dominant hereditary spastic paraplegia (HSP) type SPG8.

121 mplicated previously in complicated forms of hereditary spastic paraplegia (HSP) underlies progressiv

122 nrelated families with a complicated form of hereditary spastic paraplegia (HSP) who carry bi-allelic

123 in any of its four subunits cause a form of hereditary spastic paraplegia (HSP) with intellectual di

124 ions in spastin, strumpellin, or REEP1 cause hereditary spastic paraplegia (HSP), a disease character

125 ogy of neurodegenerative diseases, including hereditary spastic paraplegia (HSP), a disorder characte

126 implicated in an autosomal dominant form of hereditary spastic paraplegia (HSP), a motor-neurologica

127 e been identified in patients suffering from hereditary spastic paraplegia (HSP), a neurodegenerative

128 ding to spastin are the most common cause of hereditary spastic paraplegia (HSP), a neurodegenerative

129 in ATL cause an unbranched ER morphology and hereditary spastic paraplegia (HSP), a neurodegenerative

130 Mutations of various genes cause hereditary spastic paraplegia (HSP), a neurological dise

131 he AP-5 complex, have been reported to cause hereditary spastic paraplegia (HSP), although their impa

132 cular Atrophy (SMA), Multiple Sclerosis (MS) Hereditary Spastic Paraplegia (HSP), and Huntington's Di

133 he human GBA2 gene have been associated with hereditary spastic paraplegia (HSP), autosomal-recessive

134 ted in Charcot-Marie-Tooth disease (CMT) and Hereditary Spastic Paraplegia (HSP), but the mechanism o

135 In the field of hereditary spastic paraplegia (HSP), progress in molecul

136 In hereditary spastic paraplegia (HSP), the axons of cortic

137 in, result in an autosomal recessive form of hereditary spastic paraplegia (HSP).

138 which can cause distal axon degeneration in Hereditary Spastic Paraplegia (HSP).

139 rotein spastin, are the most common cause of hereditary spastic paraplegia (HSP).

140 mbranes, cause an axon degenerative disease, hereditary spastic paraplegia (HSP).

141 nes, including spastin and atlastin, lead to hereditary spastic paraplegia (HSP).

142 ed the StartReact effect in humans with pure hereditary spastic paraplegia (HSP).

143 nown cause of autosomal-dominantly inherited hereditary spastic paraplegia (HSP-ATL1, SPG3A) with a p

144 ZFYVE26-associated hereditary spastic paraplegia (HSP-ZFYVE26, SPG15) is a

145 The hereditary spastic paraplegias (HSP) are among the most

146 rms of motor neuron disease (MND), including hereditary spastic paraplegias (HSP), are associated wit

147 and its mutation is the most common cause of hereditary spastic paraplegias (HSP).

148 The hereditary spastic paraplegias (HSPs) (SPG1-29) comprise

149 The hereditary spastic paraplegias (HSPs) are a genetically

150 The pure hereditary spastic paraplegias (HSPs) are a group of con

151 Hereditary spastic paraplegias (HSPs) are a group of dis

152 Hereditary spastic paraplegias (HSPs) are a group of gen

153 Hereditary spastic paraplegias (HSPs) are a large, genet

154 The hereditary spastic paraplegias (HSPs) are a rare and het

155 The hereditary spastic paraplegias (HSPs) are characterized

156 Hereditary spastic paraplegias (HSPs) are clinically and

157 The hereditary spastic paraplegias (HSPs) are genetic condit

158 Hereditary spastic paraplegias (HSPs) are genetically dr

159 The hereditary spastic paraplegias (HSPs) are genetically he

160 The hereditary spastic paraplegias (HSPs) are heterogeneous

161 Hereditary spastic paraplegias (HSPs) are neurodegenerat

162 Hereditary spastic paraplegias (HSPs) comprise a large g

163 The family of genes implicated in hereditary spastic paraplegias (HSPs) is quickly expandi

164 Hereditary spastic paraplegias (HSPs), a group of neurod

165 Troyer syndrome, one of several complicated hereditary spastic paraplegias (HSPs).

166 ancing protein 1 (REEP1) are associated with hereditary spastic paraplegias (HSPs).

167 Hereditary spastic paraplegias (HSPs, SPG1-46) are inher

168 Hereditary spastic paraplegias (HSPs; SPG1-45) are inher

169 Hereditary spastic paraplegias (HSPs; SPG1-48) are inher

170 Hereditary spastic paraplegias (HSPs; SPG1-76 plus other

171 The hereditary spastic paraplegias (HSPs; Strumpell-Lorrain

172 ic paraplegia and lacking mutations in known hereditary spastic paraplegia implicated genes.

173 genic mutations, P176L and R169W, that cause hereditary spastic paraplegia in humans(7)(,)(8) maintai

174 smenyl-PE metabolism have been implicated in hereditary spastic paraplegia, including SELENOI.

175 Spastic paraplegia gene 11(SPG11)-linked hereditary spastic paraplegia is a complex monogenic neu

176 Hereditary spastic paraplegia is a highly heterogeneous

177 For example, hereditary spastic paraplegia is associated with >80 gen

178 early-onset form of pure, autosomal dominant hereditary spastic paraplegia is caused by mutation in t

179 The most common form of autosomal recessive hereditary spastic paraplegia is caused by mutations in

180 Pure hereditary spastic paraplegia is characterized by length

181 Hereditary spastic paraplegia is genetically diverse: lo

182 xistence of additional, as yet undiscovered, hereditary spastic paraplegia loci.

183 logy of SPG10 and possibly of other forms of hereditary spastic paraplegia may involve perturbation o

184 t glutamylation is the main regulator of the hereditary spastic paraplegia microtubule severing enzym

185 ective strain produces similar phenotypes of hereditary spastic paraplegia (mitochondrial dysfunction

186 ctural and functional defects of an atypical hereditary spastic paraplegia mutant, ATL1-F151S, that i

187 on manifestation is adrenomyeloneuropathy, a hereditary spastic paraplegia of adulthood.

188 ATP1A3-related phenotypes resembling complex hereditary spastic paraplegia or idiopathic spastic cere

189 providing new insights into the pathology of hereditary spastic paraplegia, particularly how mutation

190 matography in the clinico-genetic work-up of hereditary spastic paraplegia, particularly in dominant

191 actions with the microtubule cytoskeleton in hereditary spastic paraplegia pathogenesis.

192 stin that arise from mutations identified in hereditary spastic paraplegia patients.

193 ost commonly classified as a complex form of hereditary spastic paraplegia, present in families from

194 Here, we show that the hereditary spastic paraplegia protein M1 Spastin, a memb

195 s is the first demonstration of a role for a hereditary spastic paraplegia protein or ichthyin family

196 Susceptibility Gene2) and Bhlhb5 (mutated in Hereditary Spastic Paraplegia), providing a molecular ha

197 Hereditary spastic paraplegias refer to a heterogeneous

198 Hereditary spastic paraplegia refers to a group of clini

199 Clinical characterization of patients with hereditary spastic paraplegias represents progressive sp

200 erent pathogenic variants in SPTSSA caused a hereditary spastic paraplegia resulting in progressive m

201 ase mutated in the neurodegenerative disease hereditary spastic paraplegia, severs microtubules.

202 Pure hereditary spastic paraplegia (SPG) type 4 is the most c

203 The hereditary spastic paraplegias (SPG1-33) comprise a clus

204 o proteins that are mutated in patients with hereditary spastic paraplegia, SPG11 and SPG15.

205 tual disability syndrome, and three forms of hereditary spastic paraplegia, SPG11, SPG15 and SPG49 ca

206 DHD1 and DDHD2 genes cause specific types of hereditary spastic paraplegia (SPG28 and SPG54, respecti

207 tions have been identified in both a form of hereditary spastic paraplegia (SPG35) and a progressive

208 The early onset hereditary spastic paraplegia SPG3A is caused by mutatio

209 erstood forms of childhood-onset and complex hereditary spastic paraplegia: SPG47 (AP4B1), SPG50 (AP4

210 Hereditary spastic paraplegia subtype SPG54 is a genetic

211 se a complicated form of autosomal-recessive hereditary spastic paraplegia termed AP-4-deficiency syn

212 pathway, and implies disease mechanisms for hereditary spastic paraplegia that involve dependence of

213 a syndrome varying from juvenile-onset pure hereditary spastic paraplegia to infantile-onset spastic

214 Phenotypes ranged from juvenile-onset pure hereditary spastic paraplegia to infantile-onset spastic

215 Hereditary spastic paraplegia type 15 (HSP15) is a neuro

216 Using a mouse model of hereditary spastic paraplegia type 2 due to a null mutat

217 pe 1A (HSAN1A), GM3 synthase deficiency, and hereditary spastic paraplegia type 26 (HSPG26), each lac

218 Hereditary spastic paraplegia type 4 is characterized by

219 Hereditary spastic paraplegia type 47 (SPG47) is caused

220 therapy developed for a single patient with hereditary spastic paraplegia type 50 (SPG50).

221 atlastin-1 mutations cause a common form of hereditary spastic paraplegia, we suggest ER-shaping def

222 n (SPG4) cause an autosomal dominant form of hereditary spastic paraplegia, which is a retrograde axo

223 Loss of B4GALNT1 function causes hereditary spastic paraplegia, while its overexpression

224 ALDH18A1 mutations, and predominant complex hereditary spastic paraplegia with marked cognitive impa

225 are a frequent cause of autosomal recessive hereditary spastic paraplegia with thin corpus callosum

226 for the genes related to autosomal recessive hereditary spastic paraplegia with thin corpus callosum