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 cher, and Krabbe diseases; and metachromatic leukodystrophy).
2 new assay for the diagnosis of metachromatic leukodystrophy.
3 ying dying-back degeneration in this genetic leukodystrophy.
4 araplegia (SPG35) and a progressive familial leukodystrophy.
5 ans with phenotypes resembling metachromatic leukodystrophy.
6 tosus, and retinal vasculopathy and cerebral leukodystrophy.
7 of ClC-2 are irrelevant for GLIALCAM-related leukodystrophy.
8 ontribute to the loss of white matter in VWM leukodystrophy.
9 ein deficiency should be extended to include leukodystrophy.
10 are increasingly recognized in patients with leukodystrophy.
11 a well-established cause of hypomyelinating leukodystrophy.
12 sion, are associated with autosomal-dominant leukodystrophy.
13 gical disease, in particular hypomyelinating leukodystrophy.
14 defective in Salla disease, a rare inherited leukodystrophy.
15 ated neurodegenerative diseases including 4H leukodystrophy.
16 ve therapeutic benefits in RNASET2-deficient leukodystrophy.
17 ne therapy in a mouse model of metachromatic leukodystrophy.
18 n substantially different from POLR3-related leukodystrophy.
19 ch syndrome and metabolic conditions such as leukodystrophy.
20 ole in the development of severe progressive leukodystrophy.
21 antile disorder resembling a hypomyelinating leukodystrophy.
22 recognized severe variant of hypomyelinating leukodystrophy.
23 TMEM106B was shown to cause hypomyelinating leukodystrophy.
24 omyelinating leukodystrophies, POLR3-related leukodystrophy.
25 system (CNS) NAA and progressively worsening leukodystrophy.
26 ) have been shown to cause autosome-dominant leukodystrophy.
27 such as multiple sclerosis (MS) and various leukodystrophies.
28 lementary treatment for some chronic genetic leukodystrophies.
29 We also describe seven novel leukodystrophies.
30 r metabolic disorders, cardiomyopathies, and leukodystrophies.
31 and cell transplantation-based therapies for leukodystrophies.
32 efficacy, with implications to other genetic leukodystrophies.
33 f treatments for devastating hypomyelinating leukodystrophies.
34 ants in the PYRC2 gene cause hypomyelinating leukodystrophy 10 (HLD10), but the associated pathogenic
38 d eIF2B activity in human diseases including leukodystrophies(2), which occurs in the absence of eIF2
39 ntified and classified into four groups: (1) leukodystrophies; (2) deficiency-related metabolic disea
40 56, 201-854) or early-juvenile metachromatic leukodystrophy (291.0, 104-445) and those ineligible for
41 (ARSA), a gene responsible for metachromatic leukodystrophy, a lysosomal storage disorder, are linked
47 min B1 causes adult-onset autosomal-dominant leukodystrophy (ADLD) starting with autonomic symptoms,
48 t demyelinating disorder, Autosomal Dominant Leukodystrophy (ADLD) which is charactered by increased
49 1 gene duplications cause autosomal dominant leukodystrophy (ADLD), a fatal adult onset demyelinating
50 autosomal dominant adult-onset demyelinating leukodystrophy (ADLD), a rare neurological disorder in w
51 autosomal dominant adult-onset demyelinating leukodystrophy (ADLD), and to understand the genotype/ph
54 rebral white matter changes in metachromatic leukodystrophy after treatment with hematopoietic stem c
55 2) samples of 40 patients with metachromatic leukodystrophy (aged 0-42 years) with 38 neurologically
57 ns in Pol III subunits cause Pol III-related leukodystrophy, an early-onset neurodegenerative disease
58 oad array of diseases ranging from pediatric leukodystrophies and cerebral palsy, to multiple scleros
62 minoacyl-tRNA synthetases are known to cause leukodystrophies and genetic leukoencephalopathies-herit
67 ns account for 10% of idiopathic adult onset leukodystrophies and that genetic testing for CSF1R muta
68 axis is a potential mediator of pathology in leukodystrophies and white matter disease when further i
71 eptide appears useful to treat metachromatic leukodystrophy and possibly other neurological disorders
73 variants in TMEM163 cause a hypomyelinating leukodystrophy and uncover a novel role for zinc homeost
74 X-linked adrenoleukodystrophy, metachromatic leukodystrophy and Zellweger syndrome and will aid in th
75 l and genetic variability in hypomyelinating leukodystrophies, and the insights that can be obtained
76 cause Pelizaeus-Merzbacher Disease (PMD), a leukodystrophy, and in some instances, a peripheral neur
77 een linked to adult-onset autosomal dominant leukodystrophy, and mouse and human loss-of-function mut
83 dult-onset genetic leukoencephalopathies and leukodystrophies are increasingly recognized as a hetero
86 changes in the early stages of globoid cell leukodystrophy associated with toll-like receptor (TLR)
87 ced in the cortex at 12M, annexin A5 and the leukodystrophy-associated astrocyte proteins megalenceph
88 III subunit B, there is no in vivo model of leukodystrophy based on mutation of this Pol III subunit
89 younger than 2 years and has been labeled a leukodystrophy because of an accompanying severe myelin
91 me sequencing (GS) is promising for unsolved leukodystrophies, but its efficacy has not been prospect
92 s possible in a mouse model of metachromatic leukodystrophy by the transplantation of hematopoietic c
93 ervous system manifestations of globoid-cell leukodystrophy can be reversed by allogeneic hematopoiet
94 nsplant, if performed early in metachromatic leukodystrophy, can not only stabilize but even improve
97 adism) or RNA polymerase III (POLR3)-related leukodystrophy cases are negative for mutations in the p
98 ics and ChIP sequencing, we demonstrate that leukodystrophy-causative mutations, but not TCS mutation
101 Canavan disease (CD) is a severe, lethal leukodystrophy caused by deficiency in aspartoacylase (A
102 Alexander disease (AxD) is a devastating leukodystrophy caused by gain-of-function mutations in G
103 istinct lipid-laden macrophages, is a severe leukodystrophy caused by galactosylceramidase (GALC) mut
104 fibers and characterize Alexander disease, a leukodystrophy caused by heterozygous mutations in GFAP.
105 Alexander disease is an autosomal dominant leukodystrophy caused by heterozygous pathogenic variant
107 aeus-Merzbacher disease (PMD) is an X-linked leukodystrophy caused by mutations in Proteolipid Protei
108 Krabbe disease is a devastating pediatric leukodystrophy caused by mutations in the galactocerebro
109 zaeus-Merzbacher disease is a fatal X-linked leukodystrophy caused by mutations in the PLP1 gene, whi
110 izaeus Merzbacher disease, a hypomyelinating leukodystrophy caused by mutations in the proteolipid pr
111 erzbacher disease (PMD) is a hypomyelinating leukodystrophy caused by mutations of the proteolipid pr
112 ene therapy for Canavan disease (CD), a rare leukodystrophy characterized by defective aspartoacylase
114 with subcortical cysts (MLC), a rare type of leukodystrophy characterized by early-onset macrocephaly
115 ody disease (APBD) is an autosomal recessive leukodystrophy characterized by neurogenic bladder, prog
116 ination/vanishing white matter (CACH/VWM), a leukodystrophy characterized by neurologic regression in
117 ibe an unique patient presenting with severe leukodystrophy compatible with Pelizaeus-Merzbacher dise
122 tion in a patient with a TUBB4A mutation and leukodystrophy confirms the usefulness of taiep as a mod
124 The pathological hallmark of globoid cell leukodystrophy, demyelination with infiltration of globo
125 ood in 1 patient with juvenile metachromatic leukodystrophy diagnosed before frank degenerative sympt
126 d In vanishing white matter (VWM), a form of leukodystrophy, earlier onset is associated with faster
127 findings on extensive evaluations for known leukodystrophies, for other metabolic diseases, and for
128 ted disorders such as multiple sclerosis and leukodystrophies, for which restoration of oligodendrocy
129 +/- 2.3 yr) and were enriched in early-onset leukodystrophy genes and genes expressed in fetal brain
133 Krabbe disease, also named globoid cell (GC) leukodystrophy (GLD) for its distinct lipid-laden macrop
134 t seen in the typical infantile globoid cell leukodystrophy (GLD) in man (Krabbe disease) and in seve
144 stion is of special interest in globoid cell leukodystrophy (GLD), a genetic fatal demyelinating dise
148 diagnosed 8 years earlier with globoid cell leukodystrophy (GLD, Krabbe disease) by his severe defic
155 l models of alpha-mannosidosis, globoid cell leukodystrophy, GM1 and GM2 gangliosidosis, the mucopoly
156 sight into the pathophysiology of individual leukodystrophies have led to therapeutic developments, i
157 some patients with genetic disorders such as leukodystrophies, hemophagocytic lymphohistiocytosis, or
159 subunits are known to cause hypomyelinating leukodystrophies (HLD7) with pathogenetic mechanisms hyp
164 (twi/twi) is a murine model of globoid cell leukodystrophy in humans caused by a genetic deficiency
165 ct that null mutations of the PLP gene cause leukodystrophy in man is testament to the importance of
166 protects the brain from developing a lethal leukodystrophy in response to amino acid deficiencies.
167 eritance of a late onset rapidly progressive leukodystrophy in which exome sequencing has revealed a
168 e care of the patient with a hypomyelinating leukodystrophy include use of serial magnetic resonance
169 Mutations in TUBB4A result in a spectrum of leukodystrophy including Hypomyelination with Atrophy of
172 dominant retinal vasculopathy with cerebral leukodystrophy is a microvascular endotheliopathy with m
180 leukodystrophy (POLR3-HLD), also known as 4H leukodystrophy, is a severe neurodegenerative disease ch
182 ia (ALSP) is a frequent cause of adult-onset leukodystrophy known to be caused by autosomal dominant
184 l hearing loss) to severe childhood onset of leukodystrophy, learning disability, microcephaly, and r
185 tary spastic paraplegia (HSP type SPG35) and leukodystrophy (leukodystrophy with spasticity and dysto
187 s included ADEM-like relapses progressing to leukodystrophy-like features, and extensive cortical enc
188 ng white matter disease (VWM) is a heritable leukodystrophy linked to mutations in translation initia
189 Pelizaeus-Merzbacher disease (PMD) is a leukodystrophy linked to the proteolipid protein gene (P
190 rocytes and their progenitors, the pediatric leukodystrophies may be especially attractive targets fo
191 ervous system glial activity in globoid cell leukodystrophy may provide important insight into its pa
194 the lysosomal storage disease metachromatic leukodystrophy (MLD) characterized by massive intralysos
200 myelin sheath and resulting in metachromatic leukodystrophy (MLD), a neurodegenerative lysosomal stor
201 ctivity found in patients with metachromatic leukodystrophy (MLD), a progressive neurodegenerative LS
202 the last 20 years for juvenile metachromatic leukodystrophy (MLD), reported with variable outcome and
205 shing white matter disease (VWM) is a severe leukodystrophy of the central nervous system caused by m
207 d Cerebellum (H-ABC), a rare hypomyelinating leukodystrophy, often associated with a recurring varian
210 el for infant variants of human globoid cell leukodystrophy or Krabbe disease, were investigated.
211 mice have a mild phenotype with no apparent leukodystrophy or overt clinical features and are theref
212 ld be suspected in patients with adult onset leukodystrophy or spastic paraplegia with early onset of
215 en healthy subject samples and metachromatic leukodystrophy patient samples, and, therefore, it is su
216 Herein, we demonstrate UPR activation in the leukodystrophy Pelizaeus-Merzbacher disease (PMD) as wel
218 gical dysfunction in the X-chromosome-linked leukodystrophy Pelizaeus-Merzbacher disease (PMD)(1,2).
220 he accumulation of misfolded proteins in the leukodystrophy Pelizaeus-Merzbacher disease activates th
221 ur unrelated families with a hypomyelinating leukodystrophy phenotype harbouring variants in TMEM163
223 roids" (HDLS) and "pigmentary orthochromatic leukodystrophy" (POLD), disorders which now appear to fo
224 merase III (Pol III)-related hypomyelinating leukodystrophy (POLR3-HLD), also known as 4H leukodystro
225 Pol III, cause POLR3-related hypomyelinating leukodystrophy (POLR3-HLD), characterized by deficient c
227 rain MRI pattern characterized by cavitating leukodystrophy, predominantly in the posterior region of
228 opathy with subcortical cyst (MLC) is a rare leukodystrophy primarily caused by mutations in two gene
229 a novel group of patients who have in common leukodystrophy, primary ovarian dysfunction, and magneti
232 in disorders, such as multiple sclerosis and leukodystrophies, require technologies to generate funct
233 s has revealed the phenotypic variability of leukodystrophies, requiring adaptation of prognosticatio
234 istic feature of Canavan disease, a vacuolar leukodystrophy resulting from deficiency of the oligoden
236 e frequency of CSF1R mutations in a European leukodystrophy series and expand the phenotypic spectrum
237 'spinal cord' AND 'leukoencephalopathy' OR 'leukodystrophy'; 'spinal cord' AND 'vitamin'), further i
239 system hypomyelination, a relatively common leukodystrophy syndrome with linkage to chromosome 3 in
242 Vanishing white matter (VWM) is a fatal leukodystrophy that is caused by mutations in genes enco
243 e provide an overview of the hypomyelinating leukodystrophies, the advances in our understanding of m
244 cument neurological outcome of metachromatic leukodystrophy treated by umbilical cord blood transplan
248 ized an inducible/conditional mouse model of leukodystrophy using the orthologous Delta10 mutation in
250 lls and Sertoli cells, respectively, whereas leukodystrophy was fully developed only when ClC-2 was d
251 eath is an important feature of globoid cell leukodystrophy, we tested the ability of TLR2 reporter c
252 d to retinal and testicular degeneration and leukodystrophy, whereas gain-of-function mutations cause
253 pheroids (HDLS) is a hereditary, adult onset leukodystrophy which is characterised by the presence of
255 of stem cell transplantation for other fatal leukodystrophies with 'normal' developmental myelination
256 , along with five other disorders, including leukodystrophy with polyol metabolism abnormality, demon
257 cell-free mtDNA in patients' CSF align this leukodystrophy with primary mitochondrial disorders.
258 resenting with undefined CNS vasculitis or a leukodystrophy with prominent neuropsychiatric signs or
259 aplegia (HSP type SPG35) and leukodystrophy (leukodystrophy with spasticity and dystonia) spectrum.
262 romatic leukodystrophy is a lethal metabolic leukodystrophy, with emerging treatments for early disea