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1964 1
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1977 39
1978 47
1979 52
1980 33
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1982 47
1983 28
1984 26
1985 30
1986 22
1987 24
1988 31
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1990 13
1991 15
1992 11
1993 15
1994 13
1995 13
1996 14
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1998 14
1999 14
2000 19
2001 22
2002 28
2003 19
2004 29
2005 32
2006 27
2007 19
2008 27
2009 44
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2013 49
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Page 1
Mucolipidosis type IV.
Bach G. Bach G. Mol Genet Metab. 2001 Jul;73(3):197-203. doi: 10.1006/mgme.2001.3195. Mol Genet Metab. 2001. PMID: 11461186 Review.
Mucolipidosis type IV (MLIV) is a neurodegenerative lysosomal storage disorder characterized by psychomotor retardation and ophthalmological abnormalities, including corneal opacities, retinal degeneration, and strabismus. ...Over 80% of the MLIV patients are …
Mucolipidosis type IV (MLIV) is a neurodegenerative lysosomal storage disorder characterized by psychomotor retardation …
Mucolipidosis type IV: an update.
Wakabayashi K, Gustafson AM, Sidransky E, Goldin E. Wakabayashi K, et al. Mol Genet Metab. 2011 Nov;104(3):206-13. doi: 10.1016/j.ymgme.2011.06.006. Epub 2011 Jun 16. Mol Genet Metab. 2011. PMID: 21763169 Free PMC article. Review.
Mucolipidosis type IV (MLIV) is a neurodevelopmental as well as neurodegenerative disorder with severe psychomotor developmental delay, progressive visual impairment, and achlorydria. ...
Mucolipidosis type IV (MLIV) is a neurodevelopmental as well as neurodegenerative disorder with severe psychomotor deve …
Current concepts in the neuropathogenesis of mucolipidosis type IV.
Boudewyn LC, Walkley SU. Boudewyn LC, et al. J Neurochem. 2019 Mar;148(5):669-689. doi: 10.1111/jnc.14462. Epub 2018 Aug 30. J Neurochem. 2019. PMID: 29770442 Free PMC article. Review.
Mucolipidosis type IV (MLIV) is an autosomal recessive, lysosomal storage disorder causing progressively severe intellectual disability, motor and speech deficits, retinal degeneration often culminating in blindness, and systemic disease causing a shortened l …
Mucolipidosis type IV (MLIV) is an autosomal recessive, lysosomal storage disorder causing progressively severe intelle …
From mucolipidosis type IV to Ebola: TRPML and two-pore channels at the crossroads of endo-lysosomal trafficking and disease.
Grimm C, Butz E, Chen CC, Wahl-Schott C, Biel M. Grimm C, et al. Cell Calcium. 2017 Nov;67:148-155. doi: 10.1016/j.ceca.2017.04.003. Epub 2017 Apr 23. Cell Calcium. 2017. PMID: 28457591 Review.
What do lysosomal storage disorders such as mucolipidosis type IV have in common with Ebola, cancer cell migration, or LDL-cholesterol trafficking? ...
What do lysosomal storage disorders such as mucolipidosis type IV have in common with Ebola, cancer cell migration, or …
Unique molecular signature in mucolipidosis type IV microglia.
Cougnoux A, Drummond RA, Fellmeth M, Navid F, Collar AL, Iben J, Kulkarni AB, Pickel J, Schiffmann R, Wassif CA, Cawley NX, Lionakis MS, Porter FD. Cougnoux A, et al. J Neuroinflammation. 2019 Dec 28;16(1):276. doi: 10.1186/s12974-019-1672-4. J Neuroinflammation. 2019. PMID: 31883529 Free PMC article.
Neuroinflammation is a hallmark feature of LSD with CNS involvement such as mucolipidosis type IV, but not of others like Fabry disease. METHODS: We investigated the properties of microglia from LSD with and without major CNS involvement in 2-month-old muc …
Neuroinflammation is a hallmark feature of LSD with CNS involvement such as mucolipidosis type IV, but not of others li …
Mucolipidosis type IV in a child.
Chaer L, Harissi-Dagher M, Soucy JF, Ellezam B, Hamel P. Chaer L, et al. J AAPOS. 2018 Dec;22(6):469-471. doi: 10.1016/j.jaapos.2018.04.011. Epub 2018 Aug 16. J AAPOS. 2018. PMID: 30120981
Mucolipidosis type IV is a rare autosomal recessive lysosomal storage disorder with psychomotor developmental delay, visual impairment, and achlorhydria. ...We present the case of a child of French Canadian origin affected by mucolipidosis type …
Mucolipidosis type IV is a rare autosomal recessive lysosomal storage disorder with psychomotor developmental delay, vi …
The High Association of Ophthalmic Manifestations in Individuals With Mucolipidosis Type IV.
Gibson D, Brar V, Li R, Kalra A, Goodwin A, Couser N. Gibson D, et al. J Pediatr Ophthalmol Strabismus. 2022 Sep-Oct;59(5):332-337. doi: 10.3928/01913913-20211206-03. Epub 2022 Feb 22. J Pediatr Ophthalmol Strabismus. 2022. PMID: 35192386 Review.
PURPOSE: To present a case report of mucolipidosis type IV (ML4) and review the literature for all of the ophthalmic abnormalities associated with this disease. ...
PURPOSE: To present a case report of mucolipidosis type IV (ML4) and review the literature for all of the ophthalmic ab …
Mucolipidosis Type IV in Omani Families with a Novel MCOLN1 Mutation: Search for Evidence of Founder Effect.
Al-Alawi B, Harikrishna B, Al-Thihli K, Al Zuhabi S, Ganesh A, Al Hashami Z, Al Dhamhmani Z, Zadjali R, Al Riyami NB, Zadjali F. Al-Alawi B, et al. Genes (Basel). 2022 Jan 28;13(2):248. doi: 10.3390/genes13020248. Genes (Basel). 2022. PMID: 35205297 Free PMC article.
Mucolipidosis Type IV (MLIV) is caused by a deficiency of the mucolipin cation channel encoded by Mucolipin TRP Cation Channel 1 gene (MCOLN1). ...
Mucolipidosis Type IV (MLIV) is caused by a deficiency of the mucolipin cation channel encoded by Mucolipin TRP Cation …
Mucolipidosis type IV a rare genetic disorder: new addition to the Ashkenazi Jewish panel.
Gordon RM, Marchese T. Gordon RM, et al. J Midwifery Womens Health. 2004 Jul-Aug;49(4):359-60. doi: 10.1016/j.jmwh.2004.04.009. J Midwifery Womens Health. 2004. PMID: 15236718 Review.
Mucolipidosis type IV (MLIV) is a rare genetic disorder that primarily affects persons of Ashkenazi Jewish descent. ...
Mucolipidosis type IV (MLIV) is a rare genetic disorder that primarily affects persons of Ashkenazi Jewish descent. ...
TPC2 rescues lysosomal storage in mucolipidosis type IV, Niemann-Pick type C1, and Batten disease.
Scotto Rosato A, Krogsaeter EK, Jaślan D, Abrahamian C, Montefusco S, Soldati C, Spix B, Pizzo MT, Grieco G, Böck J, Wyatt A, Wünkhaus D, Passon M, Stieglitz M, Keller M, Hermey G, Markmann S, Gruber-Schoffnegger D, Cotman S, Johannes L, Crusius D, Boehm U, Wahl-Schott C, Biel M, Bracher F, De Leonibus E, Polishchuk E, Medina DL, Paquet D, Grimm C. Scotto Rosato A, et al. EMBO Mol Med. 2022 Sep 7;14(9):e15377. doi: 10.15252/emmm.202115377. Epub 2022 Aug 5. EMBO Mol Med. 2022. PMID: 35929194 Free PMC article.
Rescue effects by TPC2 activation, which promotes lysosomal exocytosis and autophagy, were assessed in mucolipidosis type IV (MLIV), Niemann-Pick type C1, and Batten disease patient fibroblasts, and in neurons derived from newly generated isogenic huma …
Rescue effects by TPC2 activation, which promotes lysosomal exocytosis and autophagy, were assessed in mucolipidosis type I …
1,318 results