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1 n-1, result in the lysosomal storage disease Mucolipidosis Type IV.
2 n 1, result in the lysosomal storage disease mucolipidosis Type IV.
3 nn-Pick disease type C1, Batten disease, and mucolipidosis type IV.
4                   Mutations in ML1 result in mucolipidosis type IV, a lysosomal storage disease chara
5 osomal Ca(2+)-permeable TRP channel, lead to mucolipidosis type IV, a neurodegenerative lysosomal sto
6  human TRPML1 (mucolipin 1/MCOLN1) result in mucolipidosis type IV, a severe inherited neurodegenerat
7                  Mutations in TRPML1 lead to mucolipidosis type IV, a severe lysosomal storage disord
8                          Here we report that mucolipidosis type IV and several unrelated lysosomal st
9 neurodegenerative lysosomal storage disorder mucolipidosis type IV, and a gain-of-function mutation (
10 osome storage disorders-Niemann-Pick type C, mucolipidosis type IV, and Sandhoff's disease, all of wh
11               We conclude that patients with mucolipidosis type IV are constitutively achlorhydric an
12     Mutations in the human TRPML1 gene cause mucolipidosis type IV disease (ML4).
13                                              Mucolipidosis type IV is a genetic lysosomal storage dis
14                                              Mucolipidosis type IV is an autosomal recessive lysosoma
15                                              Mucolipidosis type IV is an autosomal recessive lysosoma
16                        An unusual feature of mucolipidosis type IV is constitutive achlorhydria.
17 al dysfunction and degenerative processes in mucolipidosis type IV is unclear.
18 ed this mutant phenotype with the C. elegans mucolipidosis type IV (ML-IV) homolog, the recently iden
19                                              Mucolipidosis, type IV (ML-IV) is an autosomal recessive
20 number of LSDs including NPC1, mild cases of mucolipidosis type IV (ML4) (TRPML1-F408), Niemann-Pick
21                                              Mucolipidosis type IV (MLIV) is a developmental neurodeg
22                                              Mucolipidosis type IV (MLIV) is a lysosomal storage dise
23                                              Mucolipidosis type IV (MLIV) is a lysosomal storage dise
24                                              Mucolipidosis type IV (MLIV) is a lysosomal storage diso
25                                              Mucolipidosis type IV (MLIV) is an autosomal recessive l
26                                              Mucolipidosis type IV (MLIV) is an autosomal recessive l
27                                              Mucolipidosis type IV (MLIV) is an autosomal recessive l
28                                              Mucolipidosis type IV (MLIV) is an autosomal recessive n
29               The lysosomal storage disorder mucolipidosis type IV (MLIV) is caused by mutations in t
30                                              Mucolipidosis type IV (MLIV) is caused by mutations in t
31  in Mucolipin 1 (MCOLN1) have been linked to mucolipidosis type IV (MLIV), a lysosomal storage diseas
32 el results in the neurodegenerative disorder mucolipidosis type IV (MLIV), a lysosomal storage diseas
33 Loss of the human mucolipin-1 gene underlies mucolipidosis type IV (MLIV), a lysosomal storage diseas
34 tor potential cation channel (TRPML-1) cause mucolipidosis type IV (MLIV), a rare lysosomal storage d
35  in mucolipin-1 (MCOLN1) have been linked to mucolipidosis type IV (MLIV), a recessive lysosomal stor
36           Mutations in the MCOLN1 gene cause mucolipidosis type IV (MLIV), a severely debilitating, a
37 ve been implicated in human diseases such as mucolipidosis type IV (MLIV), autosomal dominant polycys
38 s cause the lysosomal storage disorder (LSD) mucolipidosis type IV (MLIV), contributes to upregulate
39              While mutations in TRPML1 cause mucolipidosis type IV (MLIV), the functional consequence
40 on results in the lysosomal storage disorder mucolipidosis type IV (MLIV), we examined MLIV patient f
41              TRPML1 has been associated with mucolipidosis type IV (MLIV), while no disease phenotype
42 l TRP-ML1 lead to the lipid storage disorder mucolipidosis type IV (MLIV).
43 irectly cause the lysosomal storage disorder mucolipidosis type IV (MLIV).
44 pin 1) cause the lysosomal storage disorder, mucolipidosis type IV (MLIV).
45 Mutations in MCOLN1 have been found to cause mucolipidosis type IV (MLIV; MIM 252650), a rare autosom
46 ndhoff forms), metachromatic leucodystrophy, mucolipidosis type IV, Niemann-Pick disease (types A, B,
47 rovides insights into the molecular basis of mucolipidosis type IV pathogenesis.
48 at supplementing the metabolic deficiency of Mucolipidosis Type IV patients mat not be sufficient to
49                                              Mucolipidosis type IV results from mutations in the gene