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1 se (AD) and complete loss of function causes neuronal ceroid lipofuscinosis.
2 ctive in the human disorder called infantile neuronal ceroid lipofuscinosis.
3 ngliosidosis, the mucopolysaccharidoses, and neuronal ceroid lipofuscinosis.
4 eurodegenerative storage disorder, infantile neuronal ceroid lipofuscinosis.
5 herited neurodegenerative disorder infantile neuronal ceroid lipofuscinosis.
6 cal disorder prevalent in Finland, infantile neuronal ceroid lipofuscinosis.
7 gous mutations in the PGRN gene present with neuronal ceroid lipofuscinosis.
8 ized lymphoblasts of patients with infantile neuronal ceroid lipofuscinosis.
9 neurological degenerative disorder infantile neuronal ceroid lipofuscinosis.
10 in the neurodegenerative disorder, infantile neuronal ceroid lipofuscinosis.
11 disease, and also putatively associated with neuronal ceroid lipofuscinosis.
12 d with isolated macular dystrophy as well as neuronal ceroid lipofuscinosis.
13 aging seen in mouse models of other forms of neuronal ceroid lipofuscinosis.
14 etylcysteine is beneficial for patients with neuronal ceroid lipofuscinosis.
15 RN results in the lysosomal storage disorder neuronal ceroid lipofuscinosis.
16 e the neurodegenerative disorder adult-onset neuronal ceroid lipofuscinosis.
17 FTLD) and nullizygosity produces adult-onset neuronal ceroid lipofuscinosis.
18 PP1 variants for treatment of late infantile neuronal ceroid lipofuscinosis.
19 MPSVII, Niemann-Pick type A/B, and infantile neuronal ceroid lipofuscinosis.
20 r cells, accurate genetic models of juvenile neuronal ceroid lipofuscinosis.
21 e associated with the classic late infantile neuronal ceroid lipofuscinosis.
22 odel of the human lysosomal storage disorder neuronal ceroid lipofuscinosis 10 resulted in accumulati
24 e, late infantile (or classic late infantile neuronal ceroid lipofuscinosis), a paediatric neurodegen
25 use the neurodegenerative disorder infantile neuronal ceroid lipofuscinosis, a disease characterized
26 while homozygous loss of progranulin causes neuronal ceroid lipofuscinosis, a lysosomal storage dise
27 mutations were detected in two patients with neuronal ceroid lipofuscinosis, a lysosomal storage dise
28 ions in TPP I lead to classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lyso
29 nosis type 5 (CLN5) gene are associated with neuronal ceroid lipofuscinosis, a progressive neurologic
30 Mutations in CLN3 are causative of juvenile neuronal ceroid lipofuscinosis, a rare neurodegenerative
31 LN3 are classically associated with juvenile neuronal ceroid lipofuscinosis, a rare neurodegenerative
33 uses a neurodegenerative disorder, infantile neuronal ceroid lipofuscinosis (also known as infantile
37 lpha) cause dominantly inherited adult-onset neuronal ceroid lipofuscinosis (ANCL), a rapidly progres
38 studies provide a mouse model for infantile neuronal ceroid lipofuscinosis and further suggest that
39 /lysosomal storage diseases Niemann-Pick and neuronal ceroid lipofuscinosis and have been reported to
40 to of progressive myoclonus epilepsy such as neuronal ceroid lipofuscinosis and other lysosomal disor
41 tions were clearly distinct between juvenile neuronal ceroid lipofuscinosis and retina-restricted dis
42 common pathogenic mechanisms between FTD and neuronal ceroid lipofuscinosis and suggests that neurona
43 th the reported natural history of infantile neuronal ceroid lipofuscinosis and that of affected olde
44 ditary neurodegenerative disorder, infantile neuronal ceroid lipofuscinosis, and lipid thioesters der
45 the characterization of new animal models of neuronal ceroid lipofuscinosis, and the impact of novel
46 fucosidosis, the mucopolysaccharidoses, and neuronal ceroid lipofuscinosis; and small molecule thera
48 ed two hallmark pathological features of the neuronal ceroid lipofuscinosises: autofluorescent inclus
49 n children, the loss of CLN3 causes juvenile neuronal ceroid lipofuscinosis (Batten disease), a letha
53 l impairment are the first signs of juvenile neuronal ceroid lipofuscinosis caused by CLN3 mutations,
56 otein thioesterase 1 (PPT1) causes infantile neuronal ceroid lipofuscinosis (CLN1), a pediatric neuro
58 modifying therapy for classic late infantile neuronal ceroid lipofuscinosis (CLN2 disease) exists, po
63 t with the introduced classic late infantile neuronal ceroid lipofuscinosis disease-associated mutati
64 ary neurodegenerative disease late infantile neuronal ceroid lipofuscinosis encodes a lysosomal prote
65 Parkinson's disease-associated gene ATP13A2, neuronal ceroid lipofuscinosis gene TPP1 and the heredit
66 onal ceroid lipofuscinosis and suggests that neuronal ceroid lipofuscinosis genes should be investiga
68 Gene products for six of the eight forms of neuronal ceroid lipofuscinosis have now been discovered,
80 g mutations in the PPT1 gene cause infantile neuronal ceroid lipofuscinosis (INCL), a devastating neu
83 mutations in PPT in patients with infantile neuronal ceroid lipofuscinosis (INCL), a severe neurodeg
84 tein thioesterase (PPT) gene cause infantile neuronal ceroid lipofuscinosis (INCL), the clinical mani
93 ase is a lysosomal enzyme and that infantile neuronal ceroid lipofuscinosis is properly classified as
94 ile CLN3 disease (formerly known as juvenile neuronal ceroid lipofuscinosis) is a fatal childhood neu
95 1 (CLN1) disease, formerly called infantile neuronal ceroid lipofuscinosis, is a fatal hereditary ne
98 defective autophagy specifically in juvenile neuronal ceroid lipofuscinosis (JNCL or Batten disease),
99 Mutations in the CLN3 gene cause juvenile neuronal ceroid lipofuscinosis (JNCL or Batten disease),
104 ere also assessed using the Hamburg Juvenile Neuronal Ceroid Lipofuscinosis (JNCL) scoring system.
114 gest that autophagy is disrupted in juvenile neuronal ceroid lipofuscinosis, likely at the level of a
118 CLN2 gene result in classical late infantile neuronal ceroid lipofuscinosis (LINCL), a fatal childhoo
122 investigations have shown that patients with neuronal ceroid lipofuscinosis (NCL) develop neurodegene
128 ediatric neurodegenerative diseases known as neuronal ceroid lipofuscinosis (NCL) or Batten disease h
132 almitoyl protein thioesterase 1 (PPT1) cause neuronal ceroid lipofuscinosis (NCL), a devastating neur
133 racteristic of the neurodegenerative disease neuronal ceroid lipofuscinosis (NCL), accumulated throug
141 cits in a naturally occurring ovine model of neuronal ceroid lipofuscinosis (NCL, Batten disease) cau
144 12, we recruited ten children with infantile neuronal ceroid lipofuscinosis; one child was lost to fo
147 e natural history of patients with infantile neuronal ceroid lipofuscinosis provides a guide for futu
148 nic mouse model is associated with a form of neuronal ceroid lipofuscinosis, suggesting that PPT1 and
149 to cause a different neurological disorder, neuronal ceroid lipofuscinosis, suggesting that the tota
150 e novel Cln1(R151X) mouse model of infantile neuronal ceroid lipofuscinosis that we have generated.
151 eneration with retinal involvement (juvenile neuronal ceroid lipofuscinosis) to retina-restricted con
152 his hypothesis, we evaluated mouse models of neuronal ceroid lipofuscinosis type 1 and 2 (CLN1 and CL
153 yme replacement therapy for the treatment of neuronal ceroid lipofuscinosis type 2 (CLN2 disease), wh
155 cerebroventricularly administered enzyme for neuronal ceroid lipofuscinosis type 2 disease that delay
159 CLN6 gene that causes variant late-infantile neuronal ceroid lipofuscinosis (vLINCL), a recessively i
160 features typical for variant late-infantile neuronal ceroid lipofuscinosis (vLINCL), a severe and de
161 This locus for this form of adult onset neuronal ceroid lipofuscinosis was designated neuronal c
162 ve been found to cause the infantile form of neuronal ceroid lipofuscinosis, which is a lysosomal sto
163 y been shown to be responsible for infantile neuronal ceroid lipofuscinosis, which is a severe brain
164 ects representing 32 unrelated families with neuronal ceroid lipofuscinosis who had GROD documented m
165 n 6 months and 3 years of age with infantile neuronal ceroid lipofuscinosis with any two of the seven
167 deficiency in mice causes an unusual form of neuronal ceroid lipofuscinosis with striking visceral ma