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1 h the classic late infantile neuronal ceroid lipofuscinosis.
2 an disorder called infantile neuronal ceroid lipofuscinosis.
3 lete loss of function causes neuronal ceroid lipofuscinosis.
4  storage disorder, infantile neuronal ceroid lipofuscinosis.
5 enerative disorder infantile neuronal ceroid lipofuscinosis.
6 esponsible for variant late infantile ceroid lipofuscinosis.
7 valent in Finland, infantile neuronal ceroid lipofuscinosis.
8 platelet storage-pool deficiency, and ceroid lipofuscinosis.
9 e mucopolysaccharidoses, and neuronal ceroid lipofuscinosis.
10 s of patients with infantile neuronal ceroid lipofuscinosis.
11 enerative disorder infantile neuronal ceroid lipofuscinosis.
12 nerative disorder, infantile neuronal ceroid lipofuscinosis.
13 n the PGRN gene present with neuronal ceroid lipofuscinosis.
14 o putatively associated with neuronal ceroid lipofuscinosis.
15 macular dystrophy as well as neuronal ceroid lipofuscinosis.
16 use models of other forms of neuronal ceroid lipofuscinosis.
17 beneficial for patients with neuronal ceroid lipofuscinosis.
18 erative disorder adult-onset neuronal ceroid lipofuscinosis.
19 e lysosomal storage disorder neuronal ceroid lipofuscinosis.
20  treatment of late infantile neuronal ceroid lipofuscinosis.
21 ygosity produces adult-onset neuronal ceroid lipofuscinosis.
22 Pick type A/B, and infantile neuronal ceroid lipofuscinosis.
23 e genetic models of juvenile neuronal ceroid lipofuscinosis.
24 n lysosomal storage disorder neuronal ceroid lipofuscinosis 10 resulted in accumulation of mucins in
25 ipofuscinosis was designated neuronal ceroid lipofuscinosis-11 (CLN11).
26 e (or classic late infantile neuronal ceroid lipofuscinosis), a paediatric neurodegenerative disease
27 enerative disorder infantile neuronal ceroid lipofuscinosis, a disease characterized by accumulation
28 s loss of progranulin causes neuronal ceroid lipofuscinosis, a lysosomal storage disease.
29 etected in two patients with neuronal ceroid lipofuscinosis, a lysosomal storage disease.
30 ad to classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage di
31 N5) gene are associated with neuronal ceroid lipofuscinosis, a progressive neurologic disorder that l
32 N3 are causative of juvenile neuronal ceroid lipofuscinosis, a rare neurodegenerative disease affecti
33 lly associated with juvenile neuronal ceroid lipofuscinosis, a rare neurodegenerative disease with ea
34 an autosomal dominant, adult-neuronal ceroid lipofuscinosis (AD-ANCL).
35 nerative disorder, infantile neuronal ceroid lipofuscinosis (also known as infantile Batten disease).
36 nnish-variant late infantile neuronal ceroid lipofuscinosis, also known as CLN5 disease, is caused by
37 ries (ApoE4 > ApoE3 > ApoE2) associated with lipofuscinosis, an age-related lysosomal pathology resul
38                         Adult onset neuronal lipofuscinosis (ANCL) is a human neurodegenerative disor
39 tosomal dominant adult-onset neuronal ceroid lipofuscinosis (ANCL) is a rare neurodegenerative disord
40 tosomal-dominant adult-onset neuronal ceroid lipofuscinosis (ANCL) is caused by mutation of the DNAJC
41 nantly inherited adult-onset neuronal ceroid lipofuscinosis (ANCL), a rapidly progressing and lethal
42 atten disease, also known as juvenile ceroid-lipofuscinosis and CLN3, is an autosomal recessively inh
43  a mouse model for infantile neuronal ceroid lipofuscinosis and further suggest that PPT2 serves a ro
44 ge diseases Niemann-Pick and neuronal ceroid lipofuscinosis and have been reported to regulate choles
45 e myoclonus epilepsy such as neuronal ceroid lipofuscinosis and other lysosomal disorders.
46 ly distinct between juvenile neuronal ceroid lipofuscinosis and retina-restricted disease.
47 c mechanisms between FTD and neuronal ceroid lipofuscinosis and suggests that neuronal ceroid lipofus
48 natural history of infantile neuronal ceroid lipofuscinosis and that of affected older siblings.
49 in-43-positive lesions were observed, robust lipofuscinosis and ubiquitination in GRN(-/-) mice is st
50 ulation of ubiquitinated protein aggregates, lipofuscinosis, and endolysosomal abnormalities.
51 nerative disorder, infantile neuronal ceroid lipofuscinosis, and lipid thioesters derived from acylat
52 ogy in Grn(-/-) CNS, including microgliosis, lipofuscinosis, and neuronal damage.
53 tion of new animal models of neuronal ceroid lipofuscinosis, and the impact of novel methodology to r
54 e mucopolysaccharidoses, and neuronal ceroid lipofuscinosis; and small molecule therapy in Niemann-Pi
55 lexia, Aicardi syndrome, and neuronal ceroid lipofuscinosis are presented.
56 pathological features of the neuronal ceroid lipofuscinosises: autofluorescent inclusions and lysosom
57 loss of CLN3 causes juvenile neuronal ceroid lipofuscinosis (Batten disease), a lethal neurodegenerat
58     CLN3 disease or juvenile neuronal ceroid lipofuscinosis (Batten disease), is a progressive, sever
59 e is the major adult form of neuronal ceroid lipofuscinosis, but is rare and difficult to diagnose.
60 N8 disease is a rare form of neuronal ceroid lipofuscinosis caused by biallelic mutations in the CLN8
61  the first signs of juvenile neuronal ceroid lipofuscinosis caused by CLN3 mutations, followed by ine
62     Classical late infantile neuronal ceroid lipofuscinosis (cLINCL) is a lysosomal storage disorder
63 en, classical late-infantile neuronal ceroid lipofuscinosis (cLINCL).
64 se 1 (PPT1) causes infantile neuronal ceroid lipofuscinosis (CLN1), a pediatric neurodegenerative dis
65 nerative condition infantile neuronal ceroid lipofuscinosis (CLN1).
66 y for classic late infantile neuronal ceroid lipofuscinosis (CLN2 disease) exists, poor understanding
67 somal disease late-infantile neuronal ceroid lipofuscinosis (CLN2 disease).
68 rder, classic late infantile neuronal ceroid lipofuscinosis (CLN2).
69 hood, classic late infantile neuronal ceroid lipofuscinosis (CLN2).
70 sh variant of late infantile neuronal ceroid lipofuscinosis (CLN5 disease) belongs to a family of neu
71 duced classic late infantile neuronal ceroid lipofuscinosis disease-associated mutation, G77R, signif
72 ative disease late infantile neuronal ceroid lipofuscinosis encodes a lysosomal protease with tripept
73 ase-associated gene ATP13A2, neuronal ceroid lipofuscinosis gene TPP1 and the hereditary motor and se
74 fuscinosis and suggests that neuronal ceroid lipofuscinosis genes should be investigated also in deme
75 eened mendelian dementia and neuronal ceroid lipofuscinosis genes.
76 or six of the eight forms of neuronal ceroid lipofuscinosis have now been discovered, and concerted e
77 e development of adult-onset neuronal ceroid lipofuscinosis in affected families.
78 of PUFA-CE-lipApoE4 was sufficient to induce lipofuscinosis in wild-type mice.
79                    Infantile neuronal ceroid lipofuscinosis (INCL) is a devastating childhood neurode
80                    Infantile neuronal ceroid lipofuscinosis (INCL) is a devastating childhood neurode
81                The infantile neuronal ceroid lipofuscinosis (INCL) is a devastating neurodegenerative
82                    Infantile neuronal ceroid lipofuscinosis (INCL) is a devastating, neurodegenerativ
83                    Infantile neuronal ceroid lipofuscinosis (INCL) is a fatal neurodegenerative disor
84                    Infantile neuronal ceroid lipofuscinosis (INCL) is a pediatric neurodegenerative d
85                    Infantile neuronal ceroid lipofuscinosis (INCL) is an inherited childhood neurodeg
86                    Infantile neuronal ceroid lipofuscinosis (INCL) is an inherited neurodegenerative
87                    Infantile neuronal ceroid lipofuscinosis (INCL) is an inherited neurodegenerative
88                    Infantile neuronal ceroid lipofuscinosis (INCL) is caused by palmitoyl protein thi
89 he PPT1 gene cause infantile neuronal ceroid lipofuscinosis (INCL), a devastating neurodegenerative s
90                    Infantile neuronal ceroid lipofuscinosis (INCL), a neurodegenerative storage disor
91                The infantile neuronal ceroid lipofuscinosis (INCL), a rare (one in 100 000 births) bu
92 T in patients with infantile neuronal ceroid lipofuscinosis (INCL), a severe neurodegenerative disord
93 e (PPT) gene cause infantile neuronal ceroid lipofuscinosis (INCL), the clinical manifestations of wh
94                    Infantile neuronal ceroid lipofuscinosis (INCL, Infantile Batten disease) is a neu
95                    Infantile neuronal ceroid lipofuscinosis (INCL, or CLN1 disease) is an inherited n
96              Two mRNAs were linked to ceroid lipofuscinosis, indicating a potential role for alphaCP2
97                    Infantile neuronal ceroid lipofuscinosis is a devastating neurodegenerative lysoso
98               Late infantile neuronal ceroid lipofuscinosis is a fatal childhood neurological disorde
99     Classical late-infantile neuronal ceroid lipofuscinosis is a fatal neurodegenerative disease caus
100                     Juvenile neuronal ceroid lipofuscinosis is a severe inherited neurodegenerative d
101                         CLN7 neuronal ceroid lipofuscinosis is an inherited lysosomal storage neurode
102                     Juvenile neuronal ceroid lipofuscinosis is caused by mutation of a novel, endosom
103 al enzyme and that infantile neuronal ceroid lipofuscinosis is properly classified as a lysosomal sto
104  (formerly known as juvenile neuronal ceroid lipofuscinosis) is a fatal childhood neurodegenerative d
105 e, formerly called infantile neuronal ceroid lipofuscinosis, is a fatal hereditary neurodegenerative
106                     Juvenile neuronal ceroid lipofuscinosis (JNCL or Batten disease) caused by mutati
107                     Juvenile neuronal ceroid lipofuscinosis (JNCL or Batten Disease) is one of the mo
108 agy specifically in juvenile neuronal ceroid lipofuscinosis (JNCL or Batten disease), a neurodegenera
109 the CLN3 gene cause juvenile neuronal ceroid lipofuscinosis (JNCL or Batten disease), an early onset
110                     Juvenile neuronal ceroid lipofuscinosis (JNCL) is a fatal childhood-onset neurode
111                     Juvenile neuronal ceroid lipofuscinosis (JNCL) is a fatal inherited neurodegenera
112                     Juvenile neuronal ceroid lipofuscinosis (JNCL) is a fatal lysosomal storage disea
113                     Juvenile neuronal ceroid lipofuscinosis (JNCL) is a fatal lysosomal storage disea
114 d using the Hamburg Juvenile Neuronal Ceroid Lipofuscinosis (JNCL) scoring system.
115                     Juvenile neuronal ceroid lipofuscinosis (JNCL), Batten disease, is an autosomal r
116                     Juvenile neuronal ceroid lipofuscinosis (JNCL), or Batten disease, is a neurodege
117                     Juvenile neuronal ceroid lipofuscinosis (JNCL), or juvenile Batten disease, is a
118  Batten disease, or juvenile neuronal ceroid lipofuscinosis (JNCL), results from mutations in the CLN
119  protracted form of juvenile neuronal ceroid lipofuscinosis (JNCL).
120  protein CLN3 cause Juvenile Neuronal Ceroid Lipofuscinosis (JNCL).
121 of gene mutation in juvenile neuronal ceroid lipofuscinosis (JNCL).
122               Juvenile-onset neuronal ceroid lipofuscinosis (JNCL; Batten disease) features hallmark
123 tten disease (juvenile-onset neuronal ceroid lipofuscinosis [JNCL]) is an autosomal recessive conditi
124 agy is disrupted in juvenile neuronal ceroid lipofuscinosis, likely at the level of autophagic vacuol
125     Classical late-infantile neuronal ceroid lipofuscinosis (LINCL) is a fatal neurodegenerative dise
126       Classic late infantile neuronal ceroid lipofuscinosis (LINCL) is a neurodegenerative disease in
127   The late-infantile form of neuronal ceroid lipofuscinosis (LINCL) is a progressive and ultimately f
128  in classical late infantile neuronal ceroid lipofuscinosis (LINCL), a fatal childhood neurodegenerat
129 rage disorder Late Infantile Neuronal Ceroid Lipofuscinosis (LINCL).
130 The classical late infantile neuronal ceroid lipofuscinosis (LINCLs) is an autosomal recessive diseas
131                              Neuronal ceroid lipofuscinosis (NCL) comprises approximately 13 genetica
132 ave shown that patients with neuronal ceroid lipofuscinosis (NCL) develop neurodegeneration character
133              Mouse models of neuronal ceroid lipofuscinosis (NCL) exhibit many features of the human
134                              Neuronal ceroid lipofuscinosis (NCL) is a genetically heterogeneous grou
135               Late infantile neuronal ceroid lipofuscinosis (NCL) is an inherited disorder characteri
136                              Neuronal ceroid lipofuscinosis (NCL) is one of the most prevalent neurod
137                 A subtype of neuronal ceroid lipofuscinosis (NCL) is well recognized which has a clin
138 generative diseases known as neuronal ceroid lipofuscinosis (NCL) or Batten disease has been identifi
139 escribe the ninth variant of neuronal ceroid lipofuscinosis (NCL) or Batten disease, due to defects i
140 utation may also model human neuronal ceroid lipofuscinosis (NCL) or Batten disease.
141 sease, also called infantile neuronal ceroid lipofuscinosis (NCL) or infantile Batten disease, is a f
142  thioesterase 1 (PPT1) cause neuronal ceroid lipofuscinosis (NCL), a devastating neurodegenerative di
143 he neurodegenerative disease neuronal ceroid lipofuscinosis (NCL), accumulated throughout the CNS but
144                              Neuronal ceroid lipofuscinosis (NCL), commonly referred to as Batten dis
145 order of children, infantile neuronal ceroid lipofuscinosis (NCL).
146  storage disorder, infantile neuronal ceroid lipofuscinosis (NCL).
147 e lysosomal storage disorder neuronal ceroid lipofuscinosis (NCL).
148 -43)-positive inclusions and neuronal ceroid lipofuscinosis (NCL).
149  lysosomal storage disorder, neuronal ceroid lipofuscinosis (NCL).
150 for-Rakeb syndrome (KRS) and neuronal ceroid lipofuscinosis (NCL).
151 lly occurring ovine model of neuronal ceroid lipofuscinosis (NCL, Batten disease) caused by a mutatio
152 ease) belongs to a family of neuronal ceroid lipofuscinosis (NCLs) diseases.
153 l muscular atrophy (SMA) and neuronal ceroid lipofuscinosis (NCLs).
154                                   The ceroid lipofuscinosis neuronal 1 (CLN1) disease, formerly calle
155 lysosomal membrane glycoprotein CLN3 (ceroid lipofuscinosis neuronal 3), which is modified because of
156 -derived neurons (i(3)Neuron) bearing ceroid lipofuscinosis neuronal 4 (CLN4)-linked DNAJC5 mutations
157                                       Ceroid lipofuscinosis neuronal protein 5 (Cln5) is encoded by t
158 e; however, the molecular function of ceroid lipofuscinosis neuronal protein 5 (Cln5) is unknown.
159 ative disorder caused by mutations in ceroid lipofuscinosis neuronal-3 (CLN3), a hydrophobic transmem
160 age diseases, including NPC2, Batten (ceroid lipofuscinosis, neuronal 2, CLN2), Fabry, Farber, Nieman
161 ase resulting from mutations in CLN3 (ceroid-lipofuscinosis, neuronal 3, juvenile).
162 with the Batten disease protein CLN8 (ceroid lipofuscinosis, neuronal, 8).
163  ten children with infantile neuronal ceroid lipofuscinosis; one child was lost to follow-up after th
164 generative disorder juvenile neuronal ceroid lipofuscinosis or Batten disease.
165 -of-function mutations cause neuronal ceroid lipofuscinosis or frontotemporal dementia-GRN (FTD-GRN)
166 y of patients with infantile neuronal ceroid lipofuscinosis provides a guide for future assessment of
167                             Lysosomal ceroid lipofuscinosis, pulmonary fibrosis and granulomatous col
168 is associated with a form of neuronal ceroid lipofuscinosis, suggesting that PPT1 and -2 perform non-
169 erent neurological disorder, neuronal ceroid lipofuscinosis, suggesting that the total absence of pro
170 1X) mouse model of infantile neuronal ceroid lipofuscinosis that we have generated.
171 etinal involvement (juvenile neuronal ceroid lipofuscinosis) to retina-restricted conditions.
172 we evaluated mouse models of neuronal ceroid lipofuscinosis type 1 and 2 (CLN1 and CLN2 disease, resp
173 therapy for the treatment of neuronal ceroid lipofuscinosis type 2 (CLN2 disease), which is caused by
174                              Neuronal ceroid lipofuscinosis type 2 (CLN2) is a rapidly progressive ne
175 arly administered enzyme for neuronal ceroid lipofuscinosis type 2 disease that delays symptom progre
176 o apply AAV-Ep(+) to the treatment of ceroid lipofuscinosis type 2 disease, a lysosomal storage disor
177   Homozygous variants in the neuronal ceroid lipofuscinosis type 5 (CLN5) gene are associated with ne
178                              Neuronal ceroid lipofuscinosis type 7 (CLN7) disease is a lysosomal stor
179 led profile of the impact of neuronal ceroid lipofuscinosis upon the brain.
180 auses variant late-infantile neuronal ceroid lipofuscinosis (vLINCL), a recessively inherited neurode
181 l for variant late-infantile neuronal ceroid lipofuscinosis (vLINCL), a severe and devastating multis
182 for this form of adult onset neuronal ceroid lipofuscinosis was designated neuronal ceroid lipofuscin
183  cause the infantile form of neuronal ceroid lipofuscinosis, which is a lysosomal storage disorder ch
184 be responsible for infantile neuronal ceroid lipofuscinosis, which is a severe brain disorder charact
185 g 32 unrelated families with neuronal ceroid lipofuscinosis who had GROD documented morphologically.
186  years of age with infantile neuronal ceroid lipofuscinosis with any two of the seven most lethal PPT
187 implicated in late infantile neuronal ceroid lipofuscinosis with iodine-124.
188 ce causes an unusual form of neuronal ceroid lipofuscinosis with striking visceral manifestations.

 
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