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1 gous mutations in the PGRN gene present with neuronal ceroid lipofuscinosis.
2 herited neurodegenerative disorder infantile neuronal ceroid lipofuscinosis.
3 cal disorder prevalent in Finland, infantile neuronal ceroid lipofuscinosis.
4 ized lymphoblasts of patients with infantile neuronal ceroid lipofuscinosis.
5 neurological degenerative disorder infantile neuronal ceroid lipofuscinosis.
6 in the neurodegenerative disorder, infantile neuronal ceroid lipofuscinosis.
7 etylcysteine is beneficial for patients with neuronal ceroid lipofuscinosis.
8 e the neurodegenerative disorder adult-onset neuronal ceroid lipofuscinosis.
9 PP1 variants for treatment of late infantile neuronal ceroid lipofuscinosis.
10 MPSVII, Niemann-Pick type A/B, and infantile neuronal ceroid lipofuscinosis.
11 r cells, accurate genetic models of juvenile neuronal ceroid lipofuscinosis.
12 e associated with the classic late infantile neuronal ceroid lipofuscinosis.
13 ctive in the human disorder called infantile neuronal ceroid lipofuscinosis.
14 eurodegenerative storage disorder, infantile neuronal ceroid lipofuscinosis.
16 e, late infantile (or classic late infantile neuronal ceroid lipofuscinosis), a paediatric neurodegen
17 use the neurodegenerative disorder infantile neuronal ceroid lipofuscinosis, a disease characterized
18 mutations were detected in two patients with neuronal ceroid lipofuscinosis, a lysosomal storage dise
19 ions in TPP I lead to classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lyso
20 LN3 are classically associated with juvenile neuronal ceroid lipofuscinosis, a rare neurodegenerative
22 uses a neurodegenerative disorder, infantile neuronal ceroid lipofuscinosis (also known as infantile
24 studies provide a mouse model for infantile neuronal ceroid lipofuscinosis and further suggest that
25 /lysosomal storage diseases Niemann-Pick and neuronal ceroid lipofuscinosis and have been reported to
26 th the reported natural history of infantile neuronal ceroid lipofuscinosis and that of affected olde
27 ditary neurodegenerative disorder, infantile neuronal ceroid lipofuscinosis, and lipid thioesters der
28 the characterization of new animal models of neuronal ceroid lipofuscinosis, and the impact of novel
30 ed two hallmark pathological features of the neuronal ceroid lipofuscinosises: autofluorescent inclus
31 l impairment are the first signs of juvenile neuronal ceroid lipofuscinosis caused by CLN3 mutations,
38 t with the introduced classic late infantile neuronal ceroid lipofuscinosis disease-associated mutati
39 ary neurodegenerative disease late infantile neuronal ceroid lipofuscinosis encodes a lysosomal prote
40 Parkinson's disease-associated gene ATP13A2, neuronal ceroid lipofuscinosis gene TPP1 and the heredit
41 Gene products for six of the eight forms of neuronal ceroid lipofuscinosis have now been discovered,
53 g mutations in the PPT1 gene cause infantile neuronal ceroid lipofuscinosis (INCL), a devastating neu
56 mutations in PPT in patients with infantile neuronal ceroid lipofuscinosis (INCL), a severe neurodeg
57 tein thioesterase (PPT) gene cause infantile neuronal ceroid lipofuscinosis (INCL), the clinical mani
65 ase is a lysosomal enzyme and that infantile neuronal ceroid lipofuscinosis is properly classified as
66 ile CLN3 disease (formerly known as juvenile neuronal ceroid lipofuscinosis) is a fatal childhood neu
69 defective autophagy specifically in juvenile neuronal ceroid lipofuscinosis (JNCL or Batten disease),
70 Mutations in the CLN3 gene cause juvenile neuronal ceroid lipofuscinosis (JNCL or Batten disease),
81 gest that autophagy is disrupted in juvenile neuronal ceroid lipofuscinosis, likely at the level of a
85 CLN2 gene result in classical late infantile neuronal ceroid lipofuscinosis (LINCL), a fatal childhoo
89 investigations have shown that patients with neuronal ceroid lipofuscinosis (NCL) develop neurodegene
94 ediatric neurodegenerative diseases known as neuronal ceroid lipofuscinosis (NCL) or Batten disease h
97 racteristic of the neurodegenerative disease neuronal ceroid lipofuscinosis (NCL), accumulated throug
105 cits in a naturally occurring ovine model of neuronal ceroid lipofuscinosis (NCL, Batten disease) cau
108 12, we recruited ten children with infantile neuronal ceroid lipofuscinosis; one child was lost to fo
110 e natural history of patients with infantile neuronal ceroid lipofuscinosis provides a guide for futu
111 nic mouse model is associated with a form of neuronal ceroid lipofuscinosis, suggesting that PPT1 and
112 to cause a different neurological disorder, neuronal ceroid lipofuscinosis, suggesting that the tota
113 e novel Cln1(R151X) mouse model of infantile neuronal ceroid lipofuscinosis that we have generated.
115 CLN6 gene that causes variant late-infantile neuronal ceroid lipofuscinosis (vLINCL), a recessively i
116 features typical for variant late-infantile neuronal ceroid lipofuscinosis (vLINCL), a severe and de
117 This locus for this form of adult onset neuronal ceroid lipofuscinosis was designated neuronal c
118 ve been found to cause the infantile form of neuronal ceroid lipofuscinosis, which is a lysosomal sto
119 y been shown to be responsible for infantile neuronal ceroid lipofuscinosis, which is a severe brain
120 ects representing 32 unrelated families with neuronal ceroid lipofuscinosis who had GROD documented m
121 n 6 months and 3 years of age with infantile neuronal ceroid lipofuscinosis with any two of the seven
123 deficiency in mice causes an unusual form of neuronal ceroid lipofuscinosis with striking visceral ma
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