ライフサイエンスコーパス: leukodystrophy

1 recognized severe variant of hypomyelinating leukodystrophy.

2 ontribute to the loss of white matter in VWM leukodystrophy.

3 ein deficiency should be extended to include leukodystrophy.

4 are increasingly recognized in patients with leukodystrophy.

5 omyelinating leukodystrophies, POLR3-related leukodystrophy.

6 system (CNS) NAA and progressively worsening leukodystrophy.

7 ) have been shown to cause autosome-dominant leukodystrophy.

8 new assay for the diagnosis of metachromatic leukodystrophy.

9 ying dying-back degeneration in this genetic leukodystrophy.

10 araplegia (SPG35) and a progressive familial leukodystrophy.

11 ans with phenotypes resembling metachromatic leukodystrophy.

12 tosus, and retinal vasculopathy and cerebral leukodystrophy.

13 lementary treatment for some chronic genetic leukodystrophies.

14 We also describe seven novel leukodystrophies.

15 such as multiple sclerosis (MS) and various leukodystrophies.

16 Adult-onset autosomal-dominant leukodystrophy (ADLD) is a progressive and fatal neurolo

17 Adult-onset autosomal dominant leukodystrophy (ADLD) is a slowly progressive neurologic

18 Adult-onset autosomal dominant leukodystrophy (ADLD) is a slowly progressive, neurologi

19 Autosomal dominant leukodystrophy (ADLD) is fatal neurological disorder cau

20 min B1 causes adult-onset autosomal-dominant leukodystrophy (ADLD) starting with autonomic symptoms,

21 1 gene duplications cause autosomal dominant leukodystrophy (ADLD), a fatal adult onset demyelinating

22 autosomal dominant adult-onset demyelinating leukodystrophy (ADLD), a rare neurological disorder in w

23 cation causes adult-onset autosomal dominant leukodystrophy (ADLD).

24 ause of Canavan disease, a fatal progressive leukodystrophy affecting young children.

25 rebral white matter changes in metachromatic leukodystrophy after treatment with hematopoietic stem c

26 illary acidic protein (GFAP), cause the rare leukodystrophy Alexander disease (AxD).

27 oad array of diseases ranging from pediatric leukodystrophies and cerebral palsy, to multiple scleros

28 rders of adulthood, as well as the childhood leukodystrophies and cerebral palsy.

29 Leukodystrophies and genetic leukoencephalopathies are a

30 minoacyl-tRNA synthetases are known to cause leukodystrophies and genetic leukoencephalopathies-herit

31 disorders in humans, such as hypomyelinating leukodystrophies and pontocerebellar hypoplasia.

32 and mutations in FA2H result in debilitating leukodystrophies and spastic paraparesis.

33 ns account for 10% of idiopathic adult onset leukodystrophies and that genetic testing for CSF1R muta

34 enthal fibers along with variable degrees of leukodystrophy and intellectual disability.

35 eptide appears useful to treat metachromatic leukodystrophy and possibly other neurological disorders

36 ultifocal leukoencephalopathy, metachromatic leukodystrophy and subacute infarct.

37 X-linked adrenoleukodystrophy, metachromatic leukodystrophy and Zellweger syndrome and will aid in th

38 l and genetic variability in hypomyelinating leukodystrophies, and the insights that can be obtained

39 cause Pelizaeus-Merzbacher Disease (PMD), a leukodystrophy, and in some instances, a peripheral neur

40 een linked to adult-onset autosomal dominant leukodystrophy, and mouse and human loss-of-function mut

41 Hypomyelinating leukodystrophies are a heterogeneous group of disorders

42 Demyelinating disorders including leukodystrophies are devastating conditions that are sti

43 Hypomyelinating leukodystrophies are genetically heterogeneous disorders

44 Hypomyelinating leukodystrophies are heritable disorders defined by lack

45 dult-onset genetic leukoencephalopathies and leukodystrophies are increasingly recognized as a hetero

46 y GlialCAM, a protein with a defined link to leukodystrophy, as a ClC-2 auxiliary subunit.

47 changes in the early stages of globoid cell leukodystrophy associated with toll-like receptor (TLR)

48 younger than 2 years and has been labeled a leukodystrophy because of an accompanying severe myelin

49 s possible in a mouse model of metachromatic leukodystrophy by the transplantation of hematopoietic c

50 ervous system manifestations of globoid-cell leukodystrophy can be reversed by allogeneic hematopoiet

51 nsplant, if performed early in metachromatic leukodystrophy, can not only stabilize but even improve

52 s to the fatal childhood autosomal recessive leukodystrophy Canavan disease (CD).

53 Additional features include leukodystrophy, cardiomyopathy and optic atrophy.

54 adism) or RNA polymerase III (POLR3)-related leukodystrophy cases are negative for mutations in the p

55 ics and ChIP sequencing, we demonstrate that leukodystrophy-causative mutations, but not TCS mutation

56 Canavan disease is a leukodystrophy caused by aspartoacylase (ASPA) deficienc

57 Canavan disease (CD) is a severe, lethal leukodystrophy caused by deficiency in aspartoacylase (A

58 fibers and characterize Alexander disease, a leukodystrophy caused by heterozygous mutations in GFAP.

59 hese findings define a novel, severe form of leukodystrophy caused by impaired NKX6-2 function.

60 Krabbe disease is a devastating pediatric leukodystrophy caused by mutations in the galactocerebro

61 erzbacher disease (PMD) is a hypomyelinating leukodystrophy caused by mutations of the proteolipid pr

62 Overexpression of lamin B1 leads to leukodystrophy characterized by demyelination of the cen

63 ody disease (APBD) is an autosomal recessive leukodystrophy characterized by neurogenic bladder, prog

64 ibe an unique patient presenting with severe leukodystrophy compatible with Pelizaeus-Merzbacher dise

65 The pediatric leukodystrophies comprise a category of disease manifest

66 The leukodystrophies comprise a clinically and genetically h

67 tion in a patient with a TUBB4A mutation and leukodystrophy confirms the usefulness of taiep as a mod

68 The pathological hallmark of globoid cell leukodystrophy, demyelination with infiltration of globo

69 ood in 1 patient with juvenile metachromatic leukodystrophy diagnosed before frank degenerative sympt

70 findings on extensive evaluations for known leukodystrophies, for other metabolic diseases, and for

71 ted disorders such as multiple sclerosis and leukodystrophies, for which restoration of oligodendrocy

72 Globoid cell leukodystrophy (GLD) (Krabbe disease) is an autosomal re

73 ne (twitcher mouse) and canine [globoid cell leukodystrophy (GLD) dog] models.

74 t seen in the typical infantile globoid cell leukodystrophy (GLD) in man (Krabbe disease) and in seve

75 Globoid cell leukodystrophy (GLD) is a lysosomal storage disease caus

76 Krabbe disease or globoid cell leukodystrophy (GLD) is a severe lysosomal disorder resu

77 Globoid-cell leukodystrophy (GLD) is an autosomal recessive inherited

78 Globoid-cell leukodystrophy (GLD) is an inherited demyelinating disea

79 Globoid cell leukodystrophy (GLD) is characterized histopathologicall

80 Globoid cell leukodystrophy (GLD) or Krabbe disease is a devastating,

81 Globoid cell leukodystrophy (GLD) or Krabbe disease is a neurodegener

82 stion is of special interest in globoid cell leukodystrophy (GLD), a genetic fatal demyelinating dise

83 Globoid cell leukodystrophy (GLD), also known as Krabbe disease, is a

84 f genetic demyelinating disease globoid cell leukodystrophy (GLD).

85 diagnosed 8 years earlier with globoid cell leukodystrophy (GLD, Krabbe disease) by his severe defic

86 Globoid cell leukodystrophy (GLD, Krabbe disease) is a lysosomal stor

87 Globoid cell leukodystrophy (GLD, Krabbe disease) is diagnosed by mea

88 Globoid cell leukodystrophy (GLD, Krabbe disease) is due to autosomal

89 subunits are known to cause hypomyelinating leukodystrophies (HLD7) with pathogenetic mechanisms hyp

90 PBDs are characterized by leukodystrophy, hypotonia, SNHL, retinopathy, and skelet

91 ukodystrophy is one of the classical genetic leukodystrophies in humans.

92 permits normal CNS myelination and prevents leukodystrophy in a murine Canavan disease model.

93 (twi/twi) is a murine model of globoid cell leukodystrophy in humans caused by a genetic deficiency

94 ct that null mutations of the PLP gene cause leukodystrophy in man is testament to the importance of

95 protects the brain from developing a lethal leukodystrophy in response to amino acid deficiencies.

96 eritance of a late onset rapidly progressive leukodystrophy in which exome sequencing has revealed a

97 e care of the patient with a hypomyelinating leukodystrophy include use of serial magnetic resonance

98 Globoid cell leukodystrophy is a lysosomal storage disease characteri

99 dominant retinal vasculopathy with cerebral leukodystrophy is a microvascular endotheliopathy with m

100 Krabbe's disease or globoid cell leukodystrophy is a rare demyelinating disorder of the c

101 Globoid-cell leukodystrophy is caused by a deficiency of galactocereb

102 Cerebral leukodystrophy is characteristic.

103 Globoid cell leukodystrophy is one of the classical genetic leukodyst

104 diseases such as multiple sclerosis and the leukodystrophies, is currently under debate.

105 ia (ALSP) is a frequent cause of adult-onset leukodystrophy known to be caused by autosomal dominant

106 Globoid cell leukodystrophy (Krabbe disease) is characterized by the

107 ng white matter disease (VWM) is a heritable leukodystrophy linked to mutations in translation initia

108 Pelizaeus-Merzbacher disease (PMD) is a leukodystrophy linked to the proteolipid protein gene (P

109 rocytes and their progenitors, the pediatric leukodystrophies may be especially attractive targets fo

110 ervous system glial activity in globoid cell leukodystrophy may provide important insight into its pa

111 Metachromatic leukodystrophy (MLD) is a lysosomal storage disorder cau

112 myelin sheath and resulting in metachromatic leukodystrophy (MLD), a neurodegenerative lysosomal stor

113 ctivity found in patients with metachromatic leukodystrophy (MLD), a progressive neurodegenerative LS

114 the last 20 years for juvenile metachromatic leukodystrophy (MLD), reported with variable outcome and

115 the UK, Greece and Ireland with adult onset leukodystrophy of unknown cause.

116 Five children with globoid-cell leukodystrophy (one with the infantile type and four wit

117 abnormalities with a suspected diagnosis of leukodystrophy or genetic leukoencephalopathy.

118 el for infant variants of human globoid cell leukodystrophy or Krabbe disease, were investigated.

119 ld be suspected in patients with adult onset leukodystrophy or spastic paraplegia with early onset of

120 Globoid cell leukodystrophy, or Krabbe disease, is a severe, autosoma

121 Globoid cell leukodystrophy, or Krabbe's disease, is a severe disorde

122 en healthy subject samples and metachromatic leukodystrophy patient samples, and, therefore, it is su

123 Herein, we demonstrate UPR activation in the leukodystrophy Pelizaeus-Merzbacher disease (PMD) as wel

124 al protein is formed, result in the X-linked leukodystrophy Pelizaeus-Merzbacher disease (PMD).

125 he accumulation of misfolded proteins in the leukodystrophy Pelizaeus-Merzbacher disease activates th

126 d 3 extended families within the spectrum of leukodystrophy phenotype.

127 roids" (HDLS) and "pigmentary orthochromatic leukodystrophy" (POLD), disorders which now appear to fo

128 sm of one of the most common hypomyelinating leukodystrophies, POLR3-related leukodystrophy.

129 rain MRI pattern characterized by cavitating leukodystrophy, predominantly in the posterior region of

130 a novel group of patients who have in common leukodystrophy, primary ovarian dysfunction, and magneti

131 Hypomyelinating leukodystrophies represent a genetically heterogeneous b

132 The hereditary leukodystrophies represent a group of neurological disor

133 in disorders, such as multiple sclerosis and leukodystrophies, require technologies to generate funct

134 Retinal vasculopathy with cerebral leukodystrophy (RVCL) is a rare, autosomal dominant cond

135 e frequency of CSF1R mutations in a European leukodystrophy series and expand the phenotypic spectrum

136 system hypomyelination, a relatively common leukodystrophy syndrome with linkage to chromosome 3 in

137 of the role of eIF2B as a cause of a common leukodystrophy syndrome.

138 Two newly recognized leukodystrophy syndromes are described: hypomyelination

139 Vanishing white matter (VWM) is a fatal leukodystrophy that is caused by mutations in genes enco

140 cument neurological outcome of metachromatic leukodystrophy treated by umbilical cord blood transplan

141 tures of the newly described hypomyelinating leukodystrophy type 10 with microcephaly.

142 e previously associated with hypomyelinating leukodystrophy type 7.

143 Three siblings with metachromatic leukodystrophy underwent umbilical cord blood transplant

144 eath is an important feature of globoid cell leukodystrophy, we tested the ability of TLR2 reporter c

145 pheroids (HDLS) is a hereditary, adult onset leukodystrophy which is characterised by the presence of

146 APCs from patients with metachromatic leukodystrophy, who accumulate sulfatides due to a defic

147 , along with five other disorders, including leukodystrophy with polyol metabolism abnormality, demon

148 resenting with undefined CNS vasculitis or a leukodystrophy with prominent neuropsychiatric signs or

149 We report the first case of leukodystrophy with systemic cytochrome oxidase deficien

150 patients with undiagnosed late-onset chronic leukodystrophy without GALC deficiency.