-
1
-
-
0023230993
-
Mucolipidosis Type IV: Clinical Spectrum and Natural History
-
Amir N, Zlotogora J, Bach G: Mucolipidosis Type IV: Clinical Spectrum and Natural History. Pediatrics 1987, 79: 953-959
-
(1987)
Pediatrics
, vol.79
, pp. 953-959
-
-
Amir, N.1
Zlotogora, J.2
Bach, G.3
-
2
-
-
13144293124
-
Constitive achlorohydria in mucolipidosis type IV
-
Schiffmann R, Dwyer NK, Lubensky IA, Tsokos M, Sutliff VE, Latimer JS, Frei KP, Brady RO, Barton NW, Blanchette-Mackie EJ, Goldin E: Constitive achlorohydria in mucolipidosis type IV. Proc Natl Acad Sci USA 1998, 95: 1207-1212
-
(1998)
Proc. Natl. Acad. Sci. USA
, vol.95
, pp. 1207-1212
-
-
Schiffmann, R.1
Dwyer, N.K.2
Lubensky, I.A.3
Tsokos, M.4
Sutliff, V.E.5
Latimer, J.S.6
Frei, K.P.7
Brady, R.O.8
Barton, N.W.9
Blanchette-Mackie, E.J.10
Goldin, E.11
-
3
-
-
0016055082
-
Congenital corneal clouding with abnormal systemic storage bodies: A new variant of Mucolipidosis
-
Berman ER, Livni N, Shapira E, Merin S, Levij IS: Congenital corneal clouding with abnormal systemic storage bodies: a new variant of Mucolipidosis. J Pediatr 1974, 84: 519-526
-
(1974)
J. Pediatr.
, vol.84
, pp. 519-526
-
-
Berman, E.R.1
Livni, N.2
Shapira, E.3
Merin, S.4
Levij, I.S.5
-
4
-
-
0019955276
-
Review article: Mucolipidosis IV
-
Crandall BF, Philippart M, Brown WJ, Blustone DA: Review article: Mucolipidosis IV. Am J Med Genet 1982, 12: 301-308
-
(1982)
Am. J. Med. Genet.
, vol.12
, pp. 301-308
-
-
Crandall, B.F.1
Philippart, M.2
Brown, W.J.3
Blustone, D.A.4
-
5
-
-
0017281345
-
Mucolipidosis IV. Clinical, ultrastructural, histochemical, and chemical studies of a case, including a brain biopsy
-
Tellez-Nagel I, Rapin I, Iwamoto T, Johnson AB, Norton WT, Nitowsky H: Mucolipidosis IV. Clinical, ultrastructural, histochemical, and chemical studies of a case, including a brain biopsy. Arch Neurol 1976, 33: 828-835
-
(1976)
Arch. Neurol.
, vol.33
, pp. 828-835
-
-
Tellez-Nagel, I.1
Rapin, I.2
Iwamoto, T.3
Johnson, A.B.4
Norton, W.T.5
Nitowsky, H.6
-
6
-
-
0035032399
-
Mucolipidosis Type IV: Novel MCOLN1 Mutations in Jewish and Non-Jewish Patients of the Disease in the Ashkenazi Jewish Population
-
Bargal R, Avidan N, Olender T, Asher EB, Zeigler M, Raas-Rothschild A, Frumkin A, Ben-Yoseph O, Friendlender Y, Lancet D, Bach G: Mucolipidosis Type IV: Novel MCOLN1 Mutations in Jewish and Non-Jewish Patients of the Disease in the Ashkenazi Jewish Population. Hum Mutat 2001, 17: 397-402
-
(2001)
Hum. Mutat.
, vol.17
, pp. 397-402
-
-
Bargal, R.1
Avidan, N.2
Olender, T.3
Asher, E.B.4
Zeigler, M.5
Raas-Rothschild, A.6
Frumkin, A.7
Ben-Yoseph, O.8
Friendlender, Y.9
Lancet, D.10
Bach, G.11
-
7
-
-
0033822172
-
Identification of the gene causing Mucolipidosis type IV
-
Bargal R, Avidan N, Ben-Asher E, Olender Z, Zeigler M, Frumkin A, Rass-Rothschild A, Glusman G, Lancet D, Bach G: Identification of the gene causing Mucolipidosis type IV. Nat Genet 2000, 26: 118-123
-
(2000)
Nat. Genet.
, vol.26
, pp. 118-123
-
-
Bargal, R.1
Avidan, N.2
Ben-Asher, E.3
Olender, Z.4
Zeigler, M.5
Frumkin, A.6
Rass-Rothschild, A.7
Glusman, G.8
Lancet, D.9
Bach, G.10
-
8
-
-
0033760264
-
Cloning of the gene encoding a novel integral membrane protein, mucolipidin-1 and identification of the two major founder mutations causing Mucolipidosis type IV
-
Bassi MT, Manzoni M, Monti E, Pizzo MT, Ballabio A, Borsani G: Cloning of the gene encoding a novel integral membrane protein, mucolipidin-1 and identification of the two major founder mutations causing Mucolipidosis type IV. Am J Hum Genet 2000, 67: 1110-1120
-
(2000)
Am. J. Hum. Genet.
, vol.67
, pp. 1110-1120
-
-
Bassi, M.T.1
Manzoni, M.2
Monti, E.3
Pizzo, M.T.4
Ballabio, A.5
Borsani, G.6
-
9
-
-
0034641869
-
Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel
-
Sun M, Goldin E, Stahl S, Falardeau JL, Kennedy JC, Acierno JS Jr, Bove C, Kaneski CR, Nagle J, Bromley MC, Colman M, Schiffmann R, Slaugenhaupt SA: Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel. Hum Mol Genet 2000, 9: 2471-2478
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 2471-2478
-
-
Sun, M.1
Goldin, E.2
Stahl, S.3
Falardeau, J.L.4
Kennedy, J.C.5
Acierno Jr., J.S.6
Bove, C.7
Kaneski, C.R.8
Nagle, J.9
Bromley, M.C.10
Colman, M.11
Schiffmann, R.12
Slaugenhaupt, S.A.13
-
10
-
-
0033362229
-
Mapping of the Mucolipidosis type IV gene to chromosome 19p and defining the founder haplotype
-
Slaugenhaupt SA, Acierno JS Jr, Helbling LA, Bove C, Goldin E, Bach G, Schiffmann R, Gusella JF: Mapping of the Mucolipidosis type IV gene to chromosome 19p and defining the founder haplotype. Am J Hum Genet 1999, 65: 773-778
-
(1999)
Am. J. Hum. Genet.
, vol.65
, pp. 773-778
-
-
Slaugenhaupt, S.A.1
Acierno Jr., J.S.2
Helbling, L.A.3
Bove, C.4
Goldin, E.5
Bach, G.6
Schiffmann, R.7
Gusella, J.F.8
-
11
-
-
0030805283
-
Mucolipidosis type IV: Abnormal transport of lipids to lysosomes
-
Bargal R, Bach G: Mucolipidosis type IV: abnormal transport of lipids to lysosomes. J Inherit Metab Dis 1997, 20: 625-632
-
(1997)
J. Inherit. Metab. Dis.
, vol.20
, pp. 625-632
-
-
Bargal, R.1
Bach, G.2
-
12
-
-
0032568565
-
Abnormal transport along the lysosomal pathway in mucolipidosis, type IV disease
-
Chen CS, Bach G, Pagano RE: Abnormal transport along the lysosomal pathway in mucolipidosis, type IV disease. Proc Natl Acad Sci 1998, 95: 6373-6378
-
(1998)
Proc. Natl. Acad. Sci.
, vol.95
, pp. 6373-6378
-
-
Chen, C.S.1
Bach, G.2
Pagano, R.E.3
-
13
-
-
0035031192
-
Regulation of endocytosis by CUP-5, the Caenorhabditis elegans mucolipin-1 homolog
-
Fares H, Greenwald I:Regulation of endocytosis by CUP-5, the Caenorhabditis elegans mucolipin-1 homolog. Nat Genet 2001, 28: 64-68
-
(2001)
Nat. Genet.
, vol.28
, pp. 64-68
-
-
Fares, H.1
Greenwald, I.2
-
14
-
-
0035367182
-
Homology-driven assembly of a sequence-ready mouse BAC contig map spanning regions related to the 46-Mb gene-rich euchromatic segments of human chromosome 19
-
Kim J, Gordon L, Dehal P, Badri H, Christensen M, Groza M, Ha C, Hammond S, Vargas M, Wehri E, Wagner M, Olsen A, Stubbs L: Homology-driven assembly of a sequence-ready mouse BAC contig map spanning regions related to the 46-Mb gene-rich euchromatic segments of human chromosome 19. Genomics 2001, 74: 129-141
-
(2001)
Genomics
, vol.74
, pp. 129-141
-
-
Kim, J.1
Gordon, L.2
Dehal, P.3
Badri, H.4
Christensen, M.5
Groza, M.6
Ha, C.7
Hammond, S.8
Vargas, M.9
Wehri, E.10
Wagner, M.11
Olsen, A.12
Stubbs, L.13
-
15
-
-
0035870595
-
A Physical and Transcript Map of the MCOLN1 Gene Region on Human Chromosome 19p13.3-13.2
-
Acierno JS, Kennedy JC, Falardeau JL, Leyne M., Bromley MC, Colman MW, Sun M, Bove C, Ashworth LK, Chadwik LH, Schiripo T, Ma S, Goldin E, Schiffmann R, Slaugenhaupt SA: A Physical and Transcript Map of the MCOLN1 Gene Region on Human Chromosome 19p13.3-13.2. Genomics 2001, 73: 203-210
-
(2001)
Genomics
, vol.73
, pp. 203-210
-
-
Acierno, J.S.1
Kennedy, J.C.2
Falardeau, J.L.3
Leyne, M.4
Bromley, M.C.5
Colman, M.W.6
Sun, M.7
Bove, C.8
Ashworth, L.K.9
Chadwik, L.H.10
Schiripo, T.11
Ma, S.12
Goldin, E.13
Schiffmann, R.14
Slaugenhaupt, S.A.15
-
17
-
-
0030002738
-
Myelin/oligodendrocyte glycoprotein is alternatively spliced in humans but not mice
-
Ballenthin PA, Gardinier MV: Myelin/oligodendrocyte glycoprotein is alternatively spliced in humans but not mice. J Neurosci Res 1996, 46: 271-281
-
(1996)
J. Neurosci. Res.
, vol.46
, pp. 271-281
-
-
Ballenthin, P.A.1
Gardinier, M.V.2
|