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1 on oligodendrocyte development, resulting in hypomyelination.
2 neurological phenotype resembling congenital hypomyelination.
3 ard wrapping during myelin formation causing hypomyelination.
4 odevelopmental defects, including severe CNS hypomyelination.
5 c myelination in the disorders of congenital hypomyelination.
6 well as diminished oligodendrocyte loss and hypomyelination.
7 ith impaired neurodevelopment, epilepsy, and hypomyelination.
8 cating that genetic deletion of Bace1 causes hypomyelination.
9 of oligodendrocyte precursors (OPCs) and CNS hypomyelination.
10 tion 5' to the qkI gene, resulting in severe hypomyelination.
11 ed with a number of neural defects including hypomyelination.
12 e of the mutation and thus the degree of CNS hypomyelination.
13 ient to drive a microglial phenotype causing hypomyelination.
14 n, with resultant astrocytic dysfunction and hypomyelination.
15 endrocytes, correlating with postnatal brain hypomyelination.
16 ndings suggestive of significant and diffuse hypomyelination.
17 ibed in patients with central nervous system hypomyelination.
18 NPC loss results in regional dysfunction and hypomyelination.
19 ier-onset presentation associated with brain hypomyelination.
20 ays of genes already associated with central hypomyelination.
21 sis in Lgi4-deficient mice due to peripheral hypomyelination.
22 ibited neuroimaging that was consistent with hypomyelination.
23 differential diagnosis of spastic ataxia and hypomyelination.
24 tion of oligodendrocyte precursor cells, and hypomyelination.
25 of myelinating Schwann cells and severe PNS hypomyelination.
26 critical proteins for myelin development and hypomyelination.
27 ozygous mutations in RARS in 4 patients with hypomyelination.
28 timation was corroborated in mouse models of hypomyelination.
29 , autoimmunity, intellectual disability, and hypomyelination.
30 dysmorphisms, cortical atrophy, and cerebral hypomyelination - a phenotype that is distinct from the
31 childhood ataxia with central nervous system hypomyelination, a relatively common leukodystrophy synd
33 rting pathway in Schwann cells, resulting in hypomyelination, aberrant myelin sheaths, and impairment
35 dentified four unrelated patients with brain hypomyelination, all with the same recurrent dominant mu
36 in decreased oligodendrocyte numbers and CNS hypomyelination, although oligodendrocyte precursor cell
37 avioral deficits were associated with marked hypomyelination and a reduction of oligodendrocytes in s
39 By P14, IBA injection at P5 caused localised hypomyelination and cyst formation in this region, altho
40 as the cause of a sphingolipid disorder with hypomyelination and degeneration of both the central and
41 demonstrate that neonatal hypoxia results in hypomyelination and delayed axonal sorting in mice leadi
42 h lead to impaired OL maturation, severe CNS hypomyelination and delayed propagation of compound acti
43 severe global neurodevelopmental delay with hypomyelination and developmental brain abnormalities to
45 p.Arg2Gly), a severe combined phenotype with hypomyelination and encephalopathy (p.Asn414Lys), as wel
46 condPou3f1:MPZ(Cre) mice revealed persistent hypomyelination and eventual axonal loss but no evidence
49 to induce IVH; and the pups with IVH exhibit hypomyelination and gliosis at 2 weeks of postnatal age.
50 ce phenocopy CHN, as evidenced by the severe hypomyelination and increased numbers of proliferating S
52 tory factor (myrf) mutants with CNS-specific hypomyelination and investigated how this affected their
53 Hx)-induced neonatal brain injury results in hypomyelination and leads to neurological disabilities.
54 dividuals with brain abnormalities involving hypomyelination and microcephaly, liver dysfunction, and
57 ed the levels of p-eIF2alpha and ameliorated hypomyelination and oligodendrocyte loss in cultured hip
61 n myelinating oligodendrocytes caused severe hypomyelination and premature death without overt loss o
64 emonstrate that NL3 mutations commonly cause hypomyelination and reduced excitability in BC-PV intern
65 ysis of the KOs confirmed both the delay and hypomyelination and revealed abnormalities in myelin str
66 tic infection, this protein can induce brain hypomyelination and suppression of myelin gene expressio
68 ever, Xbp1 deletion dramatically worsens the hypomyelination and the electrophysiological and locomot
69 wide range of disorders to which congenital hypomyelination and/or postnatal demyelination may contr
71 wed streak ovaries in 1 patient and signs of hypomyelination, and gliosis on brain biopsy in another
72 facies, optic atrophy, leuko-axonopathy with hypomyelination, and neurodegenerative features with pre
73 f mice during development results in tremor, hypomyelination, and oligodendrocyte cell loss, and IFN-
74 r oligodendrocyte maturation, diffuse axonal hypomyelination, and permanent sensorimotor deficit.
75 ome characterized by postnatal microcephaly, hypomyelination, and reduced cerebral white-matter volum
76 delayed myelination, radial sorting defects, hypomyelination, and the persistence of promyelinating S
77 associated with oligodendrocyte deficits and hypomyelination are known to result when a number of tRN
79 es and oligodendrocytes, caused a persistent hypomyelination, as did deletion from astrocytes during
80 ed in injuries to oligodendrocytes (OLs) and hypomyelination, as indicated by reduced immunostaining
85 a model for a dual effect of JCV on inducing hypomyelination by (i) affecting myelin gene expression
87 aly, simplified gyral pattern of the cortex, hypomyelination, cerebellar hypoplasia, congenital arthr
88 lying a particularly severe form, congenital hypomyelination (CH), we targeted mouse Mpz to encode P0
90 gnitive and motor impairment and progressive hypomyelination characteristic of HLD revealed homozygos
91 tuberous sclerosis complex 1 (TSC1), causes hypomyelination characterized by downregulation of Akt s
92 patients manifesting classic gLE symptoms of hypomyelination, developmental delay, motor and systemic
95 motor deficits and neuropathology including hypomyelination, elevated reactive gliosis, and microcep
96 lanations as to why almost all patients with hypomyelination experience slow clinical decline after a
97 s characterized by developmentally dependent hypomyelination, first evident at postnatal day (P) 10,
98 in two animal models of hypermyelination and hypomyelination followed by longitudinal studies in the
99 e lineage and that BMP inhibition alleviates hypomyelination, gliosis, and motor impairment in the su
100 se characterized by the cardinal features of hypomyelination, hypodontia and hypogonadotropic hypogon
102 neuropediatric rare disease characterized by hypomyelination, hypotonia, developmental arrest, and ep
103 of N-Wasp in mice of both sexes resulted in hypomyelination (i.e., reduced number of myelinated axon
104 luble EGF-like domain is capable of rescuing hypomyelination in a zebrafish mutant lacking BACE1.
106 godendrocyte precursor cell (OPC) damage and hypomyelination in both neonatal and adult models of bra
107 odendrocyte survival in culture and prevents hypomyelination in cerebellar explants in the presence o
108 d biochemical analyses uncovered significant hypomyelination in Contactin-1-deficient central nerves,
109 individuals with the p.Thr660Lys variant and hypomyelination in individuals with either the p.Thr660L
110 mechanism to explain similar region-specific hypomyelination in laminin- and Fyn-deficient mice.
113 sensory, and fine sensorimotor function, and hypomyelination in multiple regions of the cerebrum and
114 N-acetyl-aspartate measured by (1)H-MRS; and hypomyelination in PFC as evidenced by relevant cellular
115 g phenotype, they did exhibit delayed and/or hypomyelination in selected areas of the brain, such as
117 of its mouse ortholog results in widespread hypomyelination in the brain and optic nerve, as well as
119 , designated furue, which causes tremors and hypomyelination in the CNS, particularly in the spinal c
120 d exploratory behavior, signs of anxiety and hypomyelination in the corpus callosum and optic nerve,
121 e matter of WAVE1-/- mice, we found regional hypomyelination in the corpus callosum and to a lesser e
123 ment of the abcd1 mutants is disrupted, with hypomyelination in the spinal cord, abnormal patterning
124 motor impairment, and the cellular basis is hypomyelination in the spinal cord, accompanied by sever
125 to define the genetic cause of the profound hypomyelination in the taiep rat model and determine its
126 visual-evoked potentials indicated that the hypomyelination in the visual cortex had functional cons
127 lipid-enriched diet was sufficient to rescue hypomyelination in these conditional mouse mutants.
128 so accompanied oligodendrocyte apoptosis and hypomyelination in transgenic mice that inappropriately
131 ted in exacerbated oligodendrocyte death and hypomyelination in young, developing mice that express I
133 condPou3f1:MPZ(Cre) mice exhibit persistent hypomyelination, indicating that strict control of Pou3f
134 able (qkV/qkV) mutant mice results in severe hypomyelination, indicating the essential function of QK
136 It has been hypothesized by others that this hypomyelination is due to a failure in myelin production
137 somal recessive and sporadic cases; and (ii) hypomyelination is frequently absent in POLR3A-related s
138 Childhood Ataxia with Central Nervous System Hypomyelination, is caused by mutations in the subunits
139 ted in recessive phenotypes including severe hypomyelination leading to ataxia, tremor, seizures and
142 d by early-onset cortical atrophy, secondary hypomyelination, microcephaly, thin corpus callosum, dev
144 nance imaging (MRI) to establish and monitor hypomyelination, molecular diagnostics to determine a sp
148 ), autism spectrum disorder (n = 5), delayed/hypomyelination (n = 7), and cerebellar abnormalities (n
149 nt oligodendrocyte production, and hence the hypomyelination noted in these disorders, as well as the
150 ant synaptic organization in the cochlea and hypomyelination of auditory nerve fibers as predominant
153 ng both Nab1 and Nab2 show severe congenital hypomyelination of peripheral nerves, with Schwann cell
155 athological examination indicated no sign of hypomyelination of the brain, but surprisingly, revealed
156 , we demonstrate that loss of Gpr56 leads to hypomyelination of the central nervous system in mice.
157 hown that prenatal alcohol exposure leads to hypomyelination of the corpus callosum in adolescence an
158 Krox20 ( Egr2 ) knockout mice, which display hypomyelination of the PNS and a block of Schwann cells
160 VH) results in periventricular inflammation, hypomyelination of the white matter, and hydrocephalus i
161 nversely, mutations associated with isolated hypomyelination (p.Val255Ile and p.Arg282Pro) and the se
163 s, however, sufficient to induce significant hypomyelination pathology, implicating c-Jun as a potent
176 The transgenic mice exhibited widespread hypomyelination, resulting from a reduction in oligodend
177 ntrasts with the loss of oligodendroglia and hypomyelination seen with Tsc1 or Tsc2 deletion in the o
178 t mice occur in the absence of inflammation, hypomyelination, significant demyelination-remyelination
179 y in mouse Schwann cells, resulted in severe hypomyelination, slowed nerve conduction velocity and be
181 (Mfsd2a) present with both microcephaly and hypomyelination, suggesting an important role for LPC up
183 rast, the gross motor defects and cerebellar hypomyelination that are common features of severely aff
184 r axon size, indicating remyelination and/or hypomyelination; there was also regression of the onion
187 aracterized by oligodendrocyte death and CNS hypomyelination; thus, increasing oligodendrocyte surviv
189 childhood ataxia with central nervous system hypomyelination/vanishing white matter (CACH/VWM), a leu
195 estigate potential mechanisms underlying CNS hypomyelination, we studied myelination and oligodendroc
197 thologically, severe axonal degeneration and hypomyelination were observed in sections of dorsal root
199 the Schwann cell lineage resulted in severe hypomyelination, which occurred independently of altered
200 A (Tubb4a), result in the symptom complex of hypomyelination with atrophy of basal ganglia and cerebe
201 lt in a spectrum of leukodystrophy including Hypomyelination with Atrophy of Basal Ganglia and Cerebe
203 ized leukodystrophy syndromes are described: hypomyelination with atrophy of the basal ganglia and ce
205 m associated with TUBB4A mutations, of which hypomyelination with atrophy of the basal ganglia and ce
206 imaging abnormalities that are indicative of hypomyelination with atrophy of the basal ganglia and ce
208 ctive magnetic resonance imaging pattern for hypomyelination with atrophy of the basal ganglia and ce
209 eacetylase activity, resulted in significant hypomyelination with delayed expression of late differen
210 yria and polymicrogyria, diffuse hemispheric hypomyelination with heterotopic neurons, Purkinje cell
212 nging from primary dystonia (DYT4), isolated hypomyelination with spastic quadriplegia, and an infant