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1                                              Lafora bodies, deposits of abnormally branched, insolubl
2                                              Lafora disease (LD) is a fatal form of progressive myocl
3                                              Lafora disease (LD) is a fatal progressive myoclonus epi
4                                              Lafora disease (LD) is a fatal, congenital, neurodegener
5                                              Lafora disease (LD) is a genetic and fatal form of neuro
6                                              Lafora disease (LD) is a progressive myoclonic epilepsy
7                                              Lafora disease (LD) is a severe teenage-onset neurodegen
8                                              Lafora disease (LD) is a teenage-onset inherited progres
9                                              Lafora disease (LD) is an autosomal recessive myoclonus
10                                              Lafora disease (LD) is an autosomal recessive neurodegen
11                                              Lafora disease (LD), a fatal genetic form of myoclonic e
12                                              Lafora disease (progressive myoclonus epilepsy of Lafora
13                                              Lafora disease is a fatal progressive myoclonus epilepsy
14                                              Lafora disease is a fatal, progressive myoclonus epileps
15                                              Lafora disease is a progressive myoclonus epilepsy cause
16                                              Lafora disease is a progressive myoclonus epilepsy with
17                                              Lafora disease is a progressive myoclonus epilepsy with
18                                              Lafora disease is a rare and fatal progressive myoclonus
19                                              Lafora disease is characterized by accumulation of insol
20                                              Lafora disease is characterized by the formation of Lafo
21                                              Lafora disease manifests gradually in previously healthy
22 nimals that, by 3 months of age, accumulated Lafora bodies in the brain and to a lesser extent in hea
23 afora disease, namely glycogen accumulation, Lafora body formation, and neuroinflammation.
24 (GSDs), including Pompe, Cori, Andersen, and Lafora disease.
25  of glycogen leads to aberrant branching and Lafora body formation.
26  the treatment of the GSDs Pompe disease and Lafora disease (LD).
27  like in adult polyglucosan body disease and Lafora disease, affects the brain; (ii) that RBCK1 defic
28  like in adult polyglucosan body disease and Lafora disease, has overlong branches; (iii) that unlike
29 of cellular glycogen and its accumulation as Lafora bodies in affected tissues.
30 ycogen-like polymers (polyglucosan) known as Lafora bodies, which accumulate in neurons, muscle, live
31  of insoluble complex carbohydrates known as Lafora bodies.
32 toplasmic, glycogen-like aggregates known as Lafora bodies.
33  and progressive myoclonic epilepsy known as Lafora disease (LD).
34             To define the role of astrocytic Lafora bodies in Lafora disease pathology, we deleted gl
35 mportant role in the pathophysiology of both Lafora and Cori's disease.
36  recently, it was widely believed that brain Lafora bodies were present exclusively in neurons and th
37  of intracellular glycogen aggregates called Lafora bodies.
38  in a fatal neurodegenerative disease called Lafora disease (LD).
39 that forms water-insoluble inclusions called Lafora bodies (LBs).
40 mulations of intracellular inclusions called Lafora bodies and caused by mutations in protein phospha
41 al deposits of glycogen-like material called Lafora bodies.
42 osphorylated glycogen-like particles, called Lafora bodies.
43 cumulation of insoluble polyglucosans called Lafora bodies (LBs).
44 ed, insoluble, glycogen-like polymers called Lafora bodies.
45                      Malin deficiency causes Lafora disease, pathologically characterized by neurodeg
46 d finally (iv) that unlike laforin-deficient Lafora disease but like malin-deficient Lafora disease,
47 ient Lafora disease but like malin-deficient Lafora disease, RBCK1 deficiency's glycogen hyperphospho
48 ciency recapitulates that of malin-deficient Lafora disease.
49 fora disease, Epm2a(-/-) mice, which develop Lafora bodies in several tissues.
50 e, leading to the neurodegenerative disorder Lafora Disease.
51  cause the fatal neurodegenerative disorder, Lafora disease, characterized by increased glycogen phos
52 ivator protein, nearly completely eliminates Lafora bodies and rescues the neurodegeneration, myoclon
53  disease, the progressive myoclonic epilepsy Lafora disease, excessive phosphorylation of glycogen ha
54 apy for the fatal adolescence onset epilepsy Lafora disease.
55 PM2B a fatal progressive myoclonus epilepsy (Lafora disease).
56         In older mice that already exhibited Lafora bodies, Gys1-ASO inhibited further accumulation,
57 ause up-regulation of laforin cannot explain Lafora body formation, we conclude that malin functions
58                In 1995, we mapped a gene for Lafora's progressive myoclonus epilepsy in chromosome 6q
59 skeletal muscle or a single hippocampus from Lafora disease mouse models.
60 ion and accumulations of malformed glycogen (Lafora bodies).
61 ycogen synthesis in astrocytes-thus impeding Lafora bodies accumulation in this cell type-prevented t
62 dological platform for biomarker analyses in Lafora disease and other GSDs.
63 fine the role of astrocytic Lafora bodies in Lafora disease pathology, we deleted glycogen synthase s
64                          In several, e.g. in Lafora disease caused by the absence of the glycogen pho
65 ostasis, the aberrant glycogen metabolism in Lafora disease might disturb whole-body glucose handling
66 a carbohydrate-binding module, is mutated in Lafora disease (LD).
67              Malin is known to be mutated in Lafora disease, an autosomal recessive disorder clinical
68 hat of laforin, the human protein mutated in Lafora epilepsy.
69 tributes to neurodegeneration as observed in Lafora disease.
70 tions in the gene encoding laforin result in Lafora disease, a fatal autosomal recessive neurodegener
71 g the glycogen phosphatase laforin result in Lafora disease.
72 irus (HBV) infection but may also be seen in Lafora's disease (myoclonus epilepsy), cyanamide alcohol
73 st possible deregulation of Wnt signaling in Lafora disease.
74 structured glycogen accumulates over time in Lafora disease (LD) and precipitates into Lafora bodies
75 e fatal neurodegenerative diseases including Lafora disease and adult polyglucosan body disease (ABPD
76 ding them to precipitate and accumulate into Lafora bodies, which drive a neuroinflammatory response
77 in Lafora disease (LD) and precipitates into Lafora bodies (LBs), leading to neurodegeneration and in
78 ther accumulation, markedly preventing large Lafora bodies characteristic of advanced disease.
79 ike adult polyglucosan body disease but like Lafora disease, RBCK1 deficiency glycogen is hyperphosph
80 hyperphosphorylated in the neurodegenerative Lafora disease (LD).
81                                  Some 90% of Lafora cases are attributed to mutations of the EPM2A or
82           Approximately half of the cases of Lafora disease result from mutations in the EPM2A gene,
83           Approximately half of the cases of Lafora disease result from mutations in the EPM2A gene,
84                Approximately 90% of cases of Lafora disease, a fatal teenage-onset progressive myoclo
85 e implicating neuronatin in the causation of Lafora disease and diabetes.
86 encoding laforin is the predominant cause of Lafora disease, a fatal form of progressive myoclonic ep
87 a disease (progressive myoclonus epilepsy of Lafora type) is an autosomal recessive neurodegenerative
88  to serine (LCS), prevented the formation of Lafora bodies in a laforin KO mouse model.
89     The molecular basis for the formation of Lafora bodies is completely unknown.
90 cteristic of the disease is the formation of Lafora bodies, insoluble deposits containing abnormal gl
91 disease is characterized by the formation of Lafora bodies, insoluble deposits containing poorly bran
92 of glycogen that paralleled the formation of Lafora bodies.
93 ult polyglucosan body disease, both forms of Lafora disease and RBCK1 deficiency, namely overlong bra
94                              The hallmark of Lafora disease, a fatal neurodegenerative disorder, is t
95  and resulting cell death is the hallmark of Lafora disease, a progressive and fatal neurodegenerativ
96 n and analysed the pathological hallmarks of Lafora disease, namely glycogen accumulation, Lafora bod
97                                Inhibition of Lafora body formation was associated with prevention of
98 forin and define the molecular mechanisms of Lafora disease.
99 also analyzed glycogen from a mouse model of Lafora disease, Epm2a(-/-) mice, which develop Lafora bo
100 aforin and the phenotype of a mouse model of Lafora disease.
101 se function and in molecular pathogenesis of Lafora's disease.
102 stent with the slow onset of the symptoms of Lafora disease.
103                           Gys1-ASO prevented Lafora body formation in young mice that had not yet for
104 abnormally structured glycogen and proteins (Lafora bodies [LBs]), and neurodegeneration.
105 esults from multiorgan accumulations, termed Lafora bodies (LB), of abnormally structured aggregation
106      However, recent evidence indicates that Lafora bodies are also present in astrocytes.
107 n astrocytes and change the perspective that Lafora disease is caused solely by alterations in neuron
108 present exclusively in neurons and thus that Lafora disease pathology derived from their accumulation
109                          The majority of the Lafora's disease (LD) is caused by defect in the EPM2A g
110 oprecipitation assay, we have found that the Lafora disease ubiquitin ligase malin interacts with dis
111 erious to glycogen structure and can lead to Lafora disease.
112 tribute to abnormal glycogen structure or to Lafora disease.

 
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