-
1
-
-
0022618089
-
Abnormal sperm and photoreceptor axonemes in Usher's syndrome
-
Hunter DG, Fishman GA, Mehta RS, et al. Abnormal sperm and photoreceptor axonemes in Usher's syndrome. Arch Ophthalmol. 1986;104:385-389. (Pubitemid 16133000)
-
(1986)
Archives of Ophthalmology
, vol.104
, Issue.3
, pp. 385-389
-
-
Hunter, D.G.1
Fishman, G.A.2
Mehta, R.S.3
Kretzer, F.L.4
-
4
-
-
0027286361
-
A motility in the eukaryotic flagellum unrelated to flagellar beating
-
Kozminski KG, Johnson KA, Forscher P, et al. A motility in the eukaryotic flagellum unrelated to flagellar beating. Proc Natl Acad Sci U S A. 1993;90:5519-5523. (Pubitemid 23176192)
-
(1993)
Proceedings of the National Academy of Sciences of the United States of America
, vol.90
, Issue.12
, pp. 5519-5523
-
-
Kozminski, K.G.1
Johnson, K.A.2
Forscher, P.3
Rosenbaum, J.L.4
-
5
-
-
34848842128
-
The retinal ciliopathies
-
DOI 10.1080/13816810701537424, PII 782473199
-
Adams NA, Awadein A, Toma HS. The retinal ciliopathies. Ophthalmic Genet. 2007;28:113-125. (Pubitemid 47493768)
-
(2007)
Ophthalmic Genetics
, vol.28
, Issue.3
, pp. 113-125
-
-
Adams, N.A.1
Awadein, A.2
Toma, H.S.3
-
6
-
-
0029586470
-
Primary cilia in normal and pathological tissues
-
Wheatley DN. Primary cilia in normal and pathological tissues. Pathobiology. 1995; 63:222-238. (Pubitemid 26044720)
-
(1995)
Pathobiology
, vol.63
, Issue.4
, pp. 222-238
-
-
Wheatley, D.N.1
-
7
-
-
0001571918
-
On the inheritance of retinitis pigmentosa with notes of cases
-
Usher C. On the inheritance of retinitis pigmentosa, with notes of cases. R Lond Ophthalmol Hosp Rep. 1914;19:130-236.
-
(1914)
R. Lond. Ophthalmol. Hosp. Rep.
, vol.19
, pp. 130-236
-
-
Usher, C.1
-
8
-
-
0020619770
-
Usher syndrome: Definition and estimate of prevalence from two high-risk populations
-
Boughman JA, Vernon M, Shaver KA. Usher syndrome: definition and estimate of prevalence from two high-risk populations. J Chronic Dis. 1983;36:595-603. (Pubitemid 13026053)
-
(1983)
Journal of Chronic Diseases
, vol.36
, Issue.8
, pp. 595-603
-
-
Boughman, J.A.1
Vernon, M.2
Shaver, K.A.3
-
9
-
-
0037925829
-
Retinitis pigmentosa and allied disorders
-
Ryan S, ed.. 4th ed. Philadelphia PA: Elsevier
-
Weleber R, Gregory-Evans K. Retinitis pigmentosa and allied disorders. In: Ryan S, ed. Retina. 4th ed. Philadelphia, PA: Elsevier; 2006:432-433.
-
(2006)
Retina
, pp. 432-433
-
-
Weleber, R.1
Gregory-Evans, K.2
-
10
-
-
77954161995
-
Genetics and pathological mechanisms of usher syndrome
-
Yan D, Liu XZ. Genetics and pathological mechanisms of Usher syndrome. J Hum Genet. 2010;55:327-335.
-
(2010)
J. Hum. Genet.
, vol.55
, pp. 327-335
-
-
Yan, D.1
Liu, X.Z.2
-
13
-
-
0001539825
-
Geschwisterpaar mit adiposgenitaler dystrophie
-
Biedl A. Geschwisterpaar mit adiposgenitaler Dystrophie. Dtsch Med Woschenschr. 1922;48:1630.
-
(1922)
Dtsch. Med. Woschenschr.
, vol.48
, pp. 1630
-
-
Biedl, A.1
-
14
-
-
0033062278
-
New criteria for improved diagnosis of Bardet-Biedl syndrome: Results of a population survey
-
Beales PL, Elcioglu N, Woolf AS, et al. New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey. J Med Genet. 1999;36:437-446. (Pubitemid 29267741)
-
(1999)
Journal of Medical Genetics
, vol.36
, Issue.6
, pp. 437-446
-
-
Beales, P.L.1
Elcioglu, N.2
Woolf, A.S.3
Parker, D.4
Flinter, F.A.5
-
15
-
-
80052941208
-
Molecular analysis of bardet-biedl syndrome families:Report of 21novel mutations in 10 genes
-
Chen J, Smaoui N, Hammer M, et al. Molecular analysis of Bardet-Biedl syndrome families:report of 21novel mutations in 10 genes. Invest Ophthalmol Vis Sci. 2011; 52:5317-5324.
-
(2011)
Invest. Ophthalmol. Vis. Sci.
, vol.52
, pp. 5317-5324
-
-
Chen, J.1
Smaoui, N.2
Hammer, M.3
-
16
-
-
77953879123
-
The conserved bardet-biedl syndrome proteins assemble a coat that traffics membrane proteins to cilia
-
Jin H, White SR, Shida T, et al. The conserved Bardet-Biedl syndrome proteins assemble a coat that traffics membrane proteins to cilia. Cell. 2010;141:1208-1219.
-
(2010)
Cell.
, vol.141
, pp. 1208-1219
-
-
Jin, H.1
White, S.R.2
Shida, T.3
-
17
-
-
33144456230
-
Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function
-
DOI 10.1093/hmg/ddi468
-
Yen HJ, Tayeh MK, Mullins RF, et al. Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function. Hum Mol Genet. 2006;15:667-677. (Pubitemid 43264692)
-
(2006)
Human Molecular Genetics
, vol.15
, Issue.5
, pp. 667-677
-
-
Yen, H.-J.1
Tayeh, M.K.2
Mullins, R.F.3
Stone, E.M.4
Sheffield, V.C.5
Slusarski, D.C.6
-
18
-
-
33749054088
-
Bardet-Biedl syndrome: An emerging pathomechanism of intracellular transport
-
DOI 10.1007/s00018-006-6180-x
-
Blacque OE, Leroux MR. Bardet-Biedl syndrome: an emerging pathomechanism of intracellular transport. Cell Mol Life Sci. 2006;63:2145-2161. (Pubitemid 44465688)
-
(2006)
Cellular and Molecular Life Sciences
, vol.63
, Issue.18
, pp. 2145-2161
-
-
Blacque, O.E.1
Leroux, M.R.2
-
20
-
-
0000784877
-
Juvenile familial nephropathy with tapetoretinal degeneration a new oculorenal dystrophy
-
Senior B, Friedmann AI, Braudo JL. Juvenile familial nephropathy with tapetoretinal degeneration. A new oculorenal dystrophy. Am J Ophthalmol. 1961;52:625-633.
-
(1961)
Am. J. Ophthalmol.
, vol.52
, pp. 625-633
-
-
Senior, B.1
Friedmann, A.I.2
Braudo, J.L.3
-
23
-
-
33645774086
-
AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome
-
Parisi MA, Doherty D, Eckert ML, et al. AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome. J Med Genet. 2006;43:334-339.
-
(2006)
J. Med. Genet.
, vol.43
, pp. 334-339
-
-
Parisi, M.A.1
Doherty, D.2
Eckert, M.L.3
-
24
-
-
28844460656
-
Cilia and centrosomes: A unifying pathogenic concept for cystic kidney disease?
-
DOI 10.1038/nrg1727
-
Hildebrandt F, Otto E. Cilia and centrosomes: a unifying pathogenic concept for cystic kidney disease? Nat Rev Genet. 2005;6:928-940. (Pubitemid 41778699)
-
(2005)
Nature Reviews Genetics
, vol.6
, Issue.12
, pp. 928-940
-
-
Hildebrandt, F.1
Otto, E.2
-
25
-
-
0041592700
-
Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination
-
DOI 10.1038/ng1217
-
Otto EA, Schermer B, Obara T, et al. Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination. Nat Genet. 2003;34:413-420. (Pubitemid 36935334)
-
(2003)
Nature Genetics
, vol.34
, Issue.4
, pp. 413-420
-
-
Otto, E.A.1
Schermer, B.2
Obara, T.3
O'Toole, J.F.4
Hiller, K.S.5
Mueller, A.M.6
Ruf, R.G.7
Hoefele, J.8
Beekmann, F.9
Landau, D.10
Foreman, J.W.11
Goodship, J.A.12
Strachan, T.13
Kispert, A.14
Wolf, M.T.15
Gagnadoux, M.F.16
Nivet, H.17
Antignac, C.18
Walz, G.19
Drummond, I.A.20
Benzing, T.21
Hildebrandt, F.22
more..
-
26
-
-
33748056457
-
Nephrocystin specifically localizes to the transition zone of renal and respiratory cilia and photoreceptor connecting cilia
-
DOI 10.1681/ASN.2005121351
-
Fliegauf M, Horvath J, von Schnakenburg C, et al. Nephrocystin specifically localizes to the transition zone of renal and respiratory cilia and photoreceptor connecting cilia. J Am Soc Nephrol. 2006;17:2424-2433. (Pubitemid 44300958)
-
(2006)
Journal of the American Society of Nephrology
, vol.17
, Issue.9
, pp. 2424-2433
-
-
Fliegauf, M.1
Horvath, J.2
Von Schnakenburg, C.3
Olbrich, H.4
Muller, D.5
Thumfart, J.6
Schermer, B.7
Pazour, G.J.8
Neumann, H.P.H.9
Zentgraf, H.10
Benzing, T.11
Omran, H.12
-
27
-
-
56049117868
-
Genetic and physical interaction between the NPHP5 and NPHP6 gene products
-
Schafer T, Putz M, Lienkamp S, et al. Genetic and physical interaction between the NPHP5 and NPHP6 gene products. Hum Mol Genet. 2008;17:3655-3662.
-
(2008)
Hum. Mol. Genet.
, vol.17
, pp. 3655-3662
-
-
Schafer, T.1
Putz, M.2
Lienkamp, S.3
-
28
-
-
78651271750
-
Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and senior-loken syndrome
-
Stone EM, Cideciyan AV, Aleman TS, et al. Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome. Arch Ophthalmol. 2011;129:81-87.
-
(2011)
Arch. Ophthalmol.
, vol.129
, pp. 81-87
-
-
Stone, E.M.1
Cideciyan, A.V.2
Aleman, T.S.3
-
29
-
-
33748664605
-
Mutations in the CEP290 (NPHP6) gene are a frequent cause of leber congenital amaurosis
-
DOI 10.1086/507318
-
den Hollander AI, Koenekoop RK, Yzer S, et al. Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. Am J Hum Genet. 2006; 79:556-561. (Pubitemid 44384265)
-
(2006)
American Journal of Human Genetics
, vol.79
, Issue.3
, pp. 556-561
-
-
Den Hollander, A.I.1
Koenekoop, R.K.2
Yzer, S.3
Lopez, I.4
Arends, M.L.5
Voesenek, K.E.J.6
Zonneveld, M.N.7
Strom, T.M.8
Meitinger, T.9
Brunner, H.G.10
Hoyng, C.B.11
Van Den Born, L.I.12
Rohrschneider, K.13
Cremers, F.P.M.14
-
30
-
-
79952578905
-
Cone photoreceptors are the main targets for gene therapy of NPHP5 IQCB1 or NPHP6 CEP290 blindness: Generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy
-
Cideciyan AV, Rachel RA, Aleman TS, et al. Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy. Hum Mol Genet. 2011;20:1411-1423.
-
(2011)
Hum. Mol. Genet.
, vol.20
, pp. 1411-1423
-
-
Cideciyan, A.V.1
Rachel, R.A.2
Aleman, T.S.3
-
32
-
-
17844367633
-
Subcellular localization of ALMS1 supports involvement of centrosome and basal body dysfunction in the pathogenesis of obesity, insulin resistance, and type 2 diabetes
-
DOI 10.2337/diabetes.54.5.1581
-
Hearn T, Spalluto C, Phillips VJ, et al. Subcellular localization of ALMS1 supports involvement of centrosome and basal body dysfunction in the pathogenesis of obesity, insulin resistance, and type 2 diabetes. Diabetes. 2005;54:1581-1587. (Pubitemid 40586693)
-
(2005)
Diabetes
, vol.54
, Issue.5
, pp. 1581-1587
-
-
Hearn, T.1
Spalluto, C.2
Phillips, V.J.3
Renforth, G.L.4
Copin, N.5
Hanley, N.A.6
Wilson, D.I.7
-
33
-
-
33846507060
-
A role for alstrom syndrome protein alms1 in kidney ciliogenesis and cellular quiescence
-
Li G, Vega R, Nelms K, et al. A role for Alstrom syndrome protein, alms1, in kidney ciliogenesis and cellular quiescence. PLoS Genet. 2007;3:e8.
-
(2007)
PLoS Genet.
, vol.3
-
-
Li, G.1
Vega, R.2
Nelms, K.3
-
34
-
-
79955035357
-
Clinical insights gained from eight new cases and review of reported cases with Jeune syndrome asphyxiating thoracic dystrophy
-
Keppler-Noreuil KM, Adam MP, Welch J, et al. Clinical insights gained from eight new cases and review of reported cases with Jeune syndrome (asphyxiating thoracic dystrophy). Am J Med Genet A. 2011;155A:1021-1032.
-
(2011)
Am. J. Med. Genet. A.
, vol.155 A
, pp. 1021-1032
-
-
Keppler-Noreuil, K.M.1
Adam, M.P.2
Welch, J.3
-
35
-
-
34249792368
-
IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy
-
DOI 10.1038/ng2038, PII NG2038
-
Beales PL, Bland E, Tobin JL, et al. IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy. Nat Genet. 2007;39:727-729. (Pubitemid 46848589)
-
(2007)
Nature Genetics
, vol.39
, Issue.6
, pp. 727-729
-
-
Beales, P.L.1
Bland, E.2
Tobin, J.L.3
Bacchelli, C.4
Tuysuz, B.5
Hill, J.6
Rix, S.7
Pearson, C.G.8
Kai, M.9
Hartley, J.10
Johnson, C.11
Irving, M.12
Elcioglu, N.13
Winey, M.14
Tada, M.15
Scambler, P.J.16
-
36
-
-
85027936614
-
Lysosomal storage diseases: Diagnostic confirmation and management of presymptomatic individuals
-
Wang RY, Bodamer OA, Watson MS, et al. Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals. Genet Med. 2011;13: 457-484.
-
(2011)
Genet. Med.
, vol.13
, pp. 457-484
-
-
Wang, R.Y.1
Bodamer, O.A.2
Watson, M.S.3
-
37
-
-
14144255733
-
Lysosomal storage disorders
-
DOI 10.1111/j.1365-2141.2004.05293.x
-
Vellodi A. Lysosomal storage disorders. Br J Haematol. 2005;128:413-431. (Pubitemid 40283160)
-
(2005)
British Journal of Haematology
, vol.128
, Issue.4
, pp. 413-431
-
-
Vellodi, A.1
-
39
-
-
33646418438
-
The ocular features of the mucopolysaccharidoses
-
DOI 10.1038/sj.eye.6701921, PII 6701921
-
Ashworth JL, Biswas S, Wraith E, et al. The ocular features of the mucopolysaccharidoses. Eye (Lond). 2006;20:553-563. (Pubitemid 43674991)
-
(2006)
Eye
, vol.20
, Issue.5
, pp. 553-563
-
-
Ashworth, J.L.1
Biswas, S.2
Wraith, E.3
Lloyd, I.C.4
-
40
-
-
0028916610
-
The mucopolysaccharidoses: A clinical review and guide to management
-
Wraith JE. The mucopolysaccharidoses: a clinical review and guide to management. Arch Dis Child. 1995;72:263-267.
-
(1995)
Arch. Dis. Child.
, vol.72
, pp. 263-267
-
-
Wraith, J.E.1
-
41
-
-
30544441076
-
Mucopolysaccharidoses and the eye
-
DOI 10.1016/j.survophthal.2005.11.007, PII S0039625705001980
-
Ashworth JL, Biswas S, Wraith E, et al. Mucopolysaccharidoses and the eye. Surv Ophthalmol. 2006;51:1-17. (Pubitemid 43083370)
-
(2006)
Survey of Ophthalmology
, vol.51
, Issue.1
, pp. 1-17
-
-
Ashworth, J.L.1
Biswas, S.2
Wraith, E.3
Lloyd, I.C.4
-
43
-
-
0033585476
-
Prevalence of lysosomal storage disorders
-
DOI 10.1001/jama.281.3.249
-
Meikle PJ, Hopwood JJ, Clague AE, et al. Prevalence of lysosomal storage disorders. JAMA. 1999;281:249-254. (Pubitemid 29058114)
-
(1999)
Journal of the American Medical Association
, vol.281
, Issue.3
, pp. 249-254
-
-
Meikle, P.J.1
Hopwood, J.J.2
Clague, A.E.3
Carey, W.F.4
-
44
-
-
0027210798
-
Photoreceptor degeneration and altered distribution of interphotoreceptor matrix proteoglycans in the mucopolysaccharidosis VII mouse
-
DOI 10.1006/exer.1993.1067
-
Lazarus HS, Sly WS, Kyle JW, et al. Photoreceptor degeneration and altered distribution of interphotoreceptor matrix proteoglycans in the mucopolysaccharidosis VII mouse. Exp Eye Res. 1993;56:531-541. (Pubitemid 23175151)
-
(1993)
Experimental Eye Research
, vol.56
, Issue.5
, pp. 531-541
-
-
Lazarus, H.S.1
Sly, W.S.2
Kyle, J.W.3
Hageman, G.S.4
-
45
-
-
79955007802
-
Diagnosis and management of ophthalmological features in patients with mucopolysaccharidosis
-
Ferrari S, Ponzin D, Ashworth JL, et al. Diagnosis and management of ophthalmological features in patients with mucopolysaccharidosis. Br J Ophthalmol. 2011;95: 613-619.
-
(2011)
Br. J. Ophthalmol.
, vol.95
, pp. 613-619
-
-
Ferrari, S.1
Ponzin, D.2
Ashworth, J.L.3
-
46
-
-
0030567921
-
Brief report: Clinical and biochemical manifestations of hyaluronidase deficiency
-
DOI 10.1056/NEJM199610033351405
-
Natowicz MR, Short MP, Wang Y, et al. Clinical and biochemical manifestations of hyaluronidase deficiency. N Engl J Med. 1996;335:1029-1033. (Pubitemid 26338733)
-
(1996)
New England Journal of Medicine
, vol.335
, Issue.14
, pp. 1029-1033
-
-
Natowicz, M.R.1
Short, M.P.2
Wang, Y.3
Dickersin, G.R.4
Gebhardt, M.C.5
Rosenthal, D.I.6
Sims, K.B.7
Rosenberg, A.E.8
-
48
-
-
0029935872
-
Mucopolysaccharidosis type IVA (Morquio syndrome): A clinical review
-
DOI 10.1007/BF01799267
-
Northover H, Cowie RA, Wraith JE. Mucopolysaccharidosis type IVA (Morquio syndrome): a clinical review. J Inherit Metab Dis. 1996;19:357-365. (Pubitemid 26185528)
-
(1996)
Journal of Inherited Metabolic Disease
, vol.19
, Issue.3
, pp. 357-365
-
-
Northover, H.1
Cowie, R.A.2
Wraith, J.E.3
-
49
-
-
0023039096
-
Electroretinographic findings in the mucopolysaccharidoses
-
Caruso RC, Kaiser-Kupfer MI, Muenzer J, et al. Electroretinographic findings in the mucopolysaccharidoses. Ophthalmology. 1986;93:1612-1616. (Pubitemid 17216940)
-
(1986)
Ophthalmology
, vol.93
, Issue.12
, pp. 1612-1616
-
-
Caruso, R.C.1
Kaiser-Kupfer, M.I.2
Muenzer, J.3
-
50
-
-
0013811925
-
Electroretinography and fundus oculi findings in hurlers disease and allied mucopolysaccharidoses
-
Gills JP, Hobson R, Hanley WB, et al. Electroretinography and fundus oculi findings in Hurler's disease and allied mucopolysaccharidoses. Arch Ophthalmol. 1965;74: 596-603.
-
(1965)
Arch. Ophthalmol.
, vol.74
, pp. 596-603
-
-
Gills, J.P.1
Hobson, R.2
Hanley, W.B.3
-
51
-
-
0020405072
-
Metabolic tapetoretinal degeneration
-
Francois J. Metabolic tapetoretinal degeneration. Annee Ther Clin Ophtalmol. 1982;33:123-137.
-
(1982)
Annee. Ther. Clin. Ophtalmol.
, vol.33
, pp. 123-137
-
-
Francois, J.1
-
52
-
-
0021836139
-
Retinal involvement in Morquio's syndrome (MPS IV)
-
Dangel ME, Tsou BH. Retinal involvement in Morquio's syndrome (MPS IV). Ann Ophthalmol. 1985;17:349-354. (Pubitemid 15040374)
-
(1985)
Annals of Ophthalmology
, vol.17
, Issue.6
, pp. 349-354
-
-
Dangel, M.E.1
Tsou, B.H.P.2
-
53
-
-
77958454803
-
A systematic review of new advances in the management of mucopolysaccharidosis VI maroteaux-lamy syndrome: Focus on galsulfase
-
El Dib RP, Pastores GM. A systematic review of new advances in the management of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): focus on galsulfase. Biologics. 2009;3:459-468.
-
(2009)
Biologics.
, vol.3
, pp. 459-468
-
-
El Dib, R.P.1
Pastores, G.M.2
-
54
-
-
33845343984
-
Sphingolipid metabolism diseases
-
DOI 10.1016/j.bbamem.2006.05.027, PII S0005273606002069, Sphingolipids, Apoptosis and Disease
-
Kolter T, Sandhoff K. Sphingolipid metabolism diseases. Biochim Biophys Acta. 2006;1758:2057-2079. (Pubitemid 44879358)
-
(2006)
Biochimica et Biophysica Acta - Biomembranes
, vol.1758
, Issue.12
, pp. 2057-2079
-
-
Kolter, T.1
Sandhoff, K.2
-
55
-
-
7744243018
-
Recent advances in the biochemistry and genetics of sphingolipidoses
-
DOI 10.1016/j.braindev.2004.01.005, PII S0387760404000397
-
Ozkara HA. Recent advances in the biochemistry and genetics of sphingolipidoses. Brain Dev. 2004;26:497-505. (Pubitemid 39463340)
-
(2004)
Brain and Development
, vol.26
, Issue.8
, pp. 497-505
-
-
Ozkara, H.A.1
-
57
-
-
0013920671
-
Retinopathy in a case of farbers lipogranulomatosis
-
Cogan DG, Kuwabara T, Moser H, et al. Retinopathy in a case of Farber's lipogranulomatosis. Arch Ophthalmol. 1966;75:752-757.
-
(1966)
Arch. Ophthalmol.
, vol.75
, pp. 752-757
-
-
Cogan, D.G.1
Kuwabara, T.2
Moser, H.3
-
59
-
-
0023461239
-
Cherry red spot in association with galactosylceramide-beta-galactosidase deficiency
-
Hofman KJ, Naidu S, Moser HW, et al. Cherry red spot in association with galactosylceramide-beta-galactosidase deficiency. J Inherit Metab Dis. 1987;10:273-274.
-
(1987)
J. Inherit. Metab. Dis.
, vol.10
, pp. 273-274
-
-
Hofman, K.J.1
Naidu, S.2
Moser, H.W.3
-
60
-
-
3042604514
-
Ocular manifestations of Niemann-Pick disease type B
-
DOI 10.1016/j.ophtha.2003.10.034, PII S0161642004001836
-
McGovern MM, Wasserstein MP, Aron A, et al. Ocular manifestations of Niemann- Pick disease type B. Ophthalmology. 2004;111:1424-1427. (Pubitemid 38844847)
-
(2004)
Ophthalmology
, vol.111
, Issue.7
, pp. 1424-1427
-
-
McGovern, M.M.1
Wasserstein, M.P.2
Aron, A.3
Desnick, R.J.4
Schuchman, E.H.5
Brodie, S.E.6
-
61
-
-
0021885022
-
The cherry-red spot in Tay-Sachs and other storage diseases
-
DOI 10.1002/ana.410170409
-
Kivlin JD, Sanborn GE, Myers GG. The cherry-red spot in Tay-Sachs and other storage diseases. Ann Neurol. 1985;17:356-360. (Pubitemid 15079062)
-
(1985)
Annals of Neurology
, vol.17
, Issue.4
, pp. 356-360
-
-
Kivlin, J.D.1
Sanborn, G.E.2
Myers, G.G.3
-
63
-
-
67649419305
-
Towards understanding the neuronal ceroid lipofuscinoses
-
Kohlschutter A, Schulz A. Towards understanding the neuronal ceroid lipofuscinoses. Brain Dev. 2009;31:499-502.
-
(2009)
Brain Dev.
, vol.31
, pp. 499-502
-
-
Kohlschutter, A.1
Schulz, A.2
-
64
-
-
79951552729
-
Interactions of the proteins of neuronal ceroid lipofuscinosis: Clues to function
-
Getty AL, Pearce DA. Interactions of the proteins of neuronal ceroid lipofuscinosis: clues to function. Cell Mol Life Sci. 2011;68:453-474.
-
(2011)
Cell Mol. Life Sci.
, vol.68
, pp. 453-474
-
-
Getty, A.L.1
Pearce, D.A.2
-
65
-
-
33846415064
-
Neuronal ceroid lipofuscinosis: A common pathway?
-
DOI 10.1203/pdr.0b013e31802d8a4a, PII 0000645020070200000005
-
Persaud-Sawin DA, Mousallem T, Wang C, et al. Neuronal ceroid lipofuscinosis: a common pathway? Pediatr Res. 2007;61:146-152. (Pubitemid 46146870)
-
(2007)
Pediatric Research
, vol.61
, Issue.2
, pp. 146-152
-
-
Persaud-Sawin, D.-A.1
Mousallem, T.2
Wang, C.3
Zucker, A.4
Kominami, E.5
Boustany, R.-M.N.6
-
66
-
-
0034279355
-
CLN-encoded proteins do not interact with each other
-
Zhong NA, Moroziewicz DN, Ju W, et al. CLN-encoded proteins do not interact with each other. Neurogenetics. 2000;3:41-44.
-
(2000)
Neurogenetics.
, vol.3
, pp. 41-44
-
-
Zhong, N.A.1
Moroziewicz, D.N.2
Ju, W.3
-
67
-
-
66349091977
-
Funduscopic and angiographic appearance in the neuronal ceroid lipofuscinoses
-
Hainsworth DP, Liu GT, Hamm CW, et al. Funduscopic and angiographic appearance in the neuronal ceroid lipofuscinoses. Retina. 2009;29:657-668.
-
(2009)
Retina
, vol.29
, pp. 657-668
-
-
Hainsworth, D.P.1
Liu, G.T.2
Hamm, C.W.3
-
68
-
-
4744361095
-
Electroretinographic and clinicopathologic correlations of retinal dysfunction in infantile neuronal ceroid lipofuscinosis (infantile Batten disease)
-
DOI 10.1016/j.ymgme.2004.06.019, PII S1096719204001702, ASHG 2004 Meeting Toronto
-
Weleber RG, Gupta N, Trzupek KM, et al. Electroretinographic and clinicopathologic correlations of retinal dysfunction in infantile neuronal ceroid lipofuscinosis (infantile Batten disease). Mol Genet Metab. 2004;83:128-137. (Pubitemid 39311287)
-
(2004)
Molecular Genetics and Metabolism
, vol.83
, Issue.1-2
, pp. 128-137
-
-
Weleber, R.G.1
Gupta, N.2
Trzupek, K.M.3
Wepner, M.S.4
Kurz, D.E.5
Milam, A.H.6
-
69
-
-
70350454889
-
Autofluorescence and infrared retinal imaging in patients and obligate carriers with neuronal ceroid lipofuscinosis
-
Kelly JP, Weiss AH, Rowell G, et al. Autofluorescence and infrared retinal imaging in patients and obligate carriers with neuronal ceroid lipofuscinosis. Ophthalmic Genet. 2009;30:190-198.
-
(2009)
Ophthalmic. Genet.
, vol.30
, pp. 190-198
-
-
Kelly, J.P.1
Weiss, A.H.2
Rowell, G.3
-
70
-
-
0031869908
-
The dystrophic retina in multisystem disorders: The electroretinogram in neuronal ceroid lipofuscinoses
-
Weleber RG. The dystrophic retina in multisystem disorders: the electroretinogram in neuronal ceroid lipofuscinoses. Eye (Lond). 1998;12:(Part 3b):580-590. (Pubitemid 28356668)
-
(1998)
Eye
, vol.12
, Issue.3 B
, pp. 580-590
-
-
Weleber, R.G.1
-
72
-
-
0022531459
-
Zellweger syndrome: Diagnostic assays, syndrome delineation, and potential therapy
-
Wilson GN, Holmes RG, Custer J, et al. Zellweger syndrome: diagnostic assays, syndrome delineation, and potential therapy. Am J Med Genet. 1986;24:69-82. (Pubitemid 16033541)
-
(1986)
American Journal of Medical Genetics
, vol.24
, Issue.1
, pp. 69-82
-
-
Wilson, G.N.1
Holmes, R.G.2
Custer, J.3
-
73
-
-
0019973378
-
Tapetoretinal degeneration in the cerebro-hepato-renal (Zellweger's) syndrome
-
Garner A, Fielder AR, Primavesi R, et al. Tapetoretinal degeneration in the cerebrohepato- renal (Zellweger's) syndrome. Br J Ophthalmol. 1982;66:422-431. (Pubitemid 12085658)
-
(1982)
British Journal of Ophthalmology
, vol.66
, Issue.7
, pp. 422-431
-
-
Garner, A.1
Fielder, A.R.2
Primavesi, R.3
Stevens, A.4
-
74
-
-
0019782010
-
Zellweger syndrome. Lenticular opacities indicating carrier status and lens abnormalities characteristic of homozygotes
-
Hittner HM, Kretzer FL, Mehta RS. Zellweger syndrome. Lenticular opacities indicating carrier status and lens abnormalities characteristic of homozygotes. Arch Ophthalmol. 1981;99:1977-1982. (Pubitemid 12228337)
-
(1981)
Archives of Ophthalmology
, vol.99
, Issue.11
, pp. 1977-1982
-
-
Hittner, H.M.1
Kretzer, F.L.2
Mehta, R.S.3
-
75
-
-
0000228425
-
Disorders of peroxisome biogenesis
-
Scriver CRBA, Sly WS et al eds 6th ed. New York: McGraw-Hill;
-
Lazarow PB, Moser HW. Disorders of peroxisome biogenesis. In: Scriver CRBA, Sly WS, et al, eds. The Metabolic Basis of Inherited Disease. 6th ed. New York: McGraw-Hill; 1989: 1479-1509.
-
(1989)
Metabolic Basis of Inherited Disease
, pp. 1479-1509
-
-
Lazarow, P.B.1
Moser, H.W.2
-
76
-
-
0029031733
-
Peroxisomal bifunctional enzyme complex deficiency with associated retinal findings
-
Eustis HS, Curry T, Superneau DW. Peroxisomal bifunctional enzyme complex deficiency with associated retinal findings. J Pediatr Ophthalmol Strabismus. 1995;32:125-127.
-
(1995)
J. Pediatr. Ophthalmol. Strabismus.
, vol.32
, pp. 125-127
-
-
Eustis, H.S.1
Curry, T.2
Superneau, D.W.3
-
78
-
-
0020701174
-
Ocular histopathologic studies of neonatal and childhood adrenoleukodystrophy
-
Cohen SM, Green WR, de la Cruz ZC, et al. Ocular histopathologic studies of neonatal and childhood adrenoleukodystrophy. Am J Ophthalmol. 1983;95:82-96. (Pubitemid 13174296)
-
(1983)
American Journal of Ophthalmology
, vol.95
, Issue.1
, pp. 82-96
-
-
Cohen, S.M.Z.1
Green, W.R.2
De La Cruz, Z.C.3
-
79
-
-
0022654796
-
Dysmorphic syndrome with phytanic acid oxidase deficiency, abnormal very long chain fatty acids, and pipecolic acidemia: Studies in four children
-
Budden SS, Kennaway NG, Buist NR, et al. Dysmorphic syndrome with phytanic acid oxidase deficiency, abnormal very long chain fatty acids, and pipecolic acidemia: studies in four children. J Pediatr. 1986;108:33-39. (Pubitemid 16126029)
-
(1986)
Journal of Pediatrics
, vol.108
, Issue.1
, pp. 33-39
-
-
Budden, S.S.1
Kennaway, N.G.2
Buist, N.R.M.3
-
80
-
-
0021136630
-
Ophthalmic manifestations of infantile phytanic acid storage disease
-
Weleber RG, Tongue AC, Kennaway NG, et al. Ophthalmic manifestations of infantile phytanic acid storage disease. Arch Ophthalmol. 1984;102:1317-1321. (Pubitemid 14071834)
-
(1984)
Archives of Ophthalmology
, vol.102
, Issue.9
, pp. 1317-1321
-
-
Weleber, R.G.1
Tongue, A.C.2
Kennaway, N.G.3
-
81
-
-
82455223273
-
Infantile refsums diseas
-
WT Gold DH, ed. Philadelphia: JB Lippincott Co;
-
Weleber RGKN. Infantile Refsum's disease. In: WT Gold DH, ed. The Eye in Systemic Disease. Philadelphia: JB Lippincott Co; 1990: 409-411.
-
(1990)
Eye in Systemic Disease
, pp. 409-411
-
-
Weleber, R.G.K.N.1
-
82
-
-
0001293272
-
Refsum disease
-
Scriver CRBA, Sly WS, et al, eds 7th ed. New York: McGraw-Hill Inc;
-
Steinberg D. Refsum disease. In: Scriver CRBA, Sly WS, et al, eds. The Metabolic and Molecular Bases of Inherited Disease. 7th ed. New York: McGraw-Hill Inc; 1995: 2351-2369.
-
(1995)
Metabolic and Molecular Bases of Inherited Disease
, pp. 2351-2369
-
-
Steinberg, D.1
-
83
-
-
1542724509
-
Molecular Basis of Refsum Disease: Sequence Variations in Phytanoyl-CoA Hydroxylase (PHYH) and the PTS2 Receptor (PEX7)
-
DOI 10.1002/humu.10315
-
Jansen GA, Waterham HR, Wanders RJ. Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7). Hum Mutat. 2004;23:209-218. (Pubitemid 38337884)
-
(2004)
Human Mutation
, vol.23
, Issue.3
, pp. 209-218
-
-
Jansen, G.A.1
Waterham, H.R.2
Wanders, R.J.A.3
-
84
-
-
0002248566
-
Heredopathia atactica polyneuritiformis: A familial syndrome not hitherto described
-
Refsum S. Heredopathia atactica polyneuritiformis: a familial syndrome not hitherto described. Acta Pyschiatr Scand. 1946;38:(suppl):1-303.
-
(1946)
Acta. Pyschiatr. Scand.
, vol.38
, pp. 1-303
-
-
Refsum, S.1
-
85
-
-
0019829746
-
Retinitis pigmentosa and allied diseases: Applications of electroretinographic testing
-
DOI 10.1007/BF00139576
-
Berson EL. Retinitis pigmentosa and allied diseases: applications of electroretinographic testing. Int Ophthalmol. 1981;4:7-22. (Pubitemid 11027365)
-
(1981)
International Ophthalmology
, vol.4
, Issue.1-2
, pp. 7-22
-
-
Berson, E.L.1
-
86
-
-
0017560529
-
Heredopathia atactica polyneuritiformis hexadecanoic acid storage disease refsums disease definition treatment and pathogenesis a short review
-
Refsum S. Heredopathia atactica polyneuritiformis. Hexadecanoic acid storage disease (Refsum's disease). Definition, treatment and pathogenesis. A short review. Psychiatr Neurol Med Psychol Beih. 1977;22-23:11-18.
-
(1977)
Psychiatr. Neurol. Med. Psychol. Beih.
, vol.22-23
, pp. 11-18
-
-
Refsum, S.1
-
87
-
-
0027532282
-
Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters
-
DOI 10.1038/361726a0
-
Mosser J, Douar AM, Sarde CO, et al. Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters. Nature. 1993;361: 726-730. (Pubitemid 23070480)
-
(1993)
Nature
, vol.361
, Issue.6414
, pp. 726-730
-
-
Mosser, J.1
Douar, A.-M.2
Sarde, C.-O.3
Kioschis, P.4
Feil, R.5
Moser, H.6
Poustka, A.-M.7
Mandel, J.-L.8
Aubourg, P.9
-
88
-
-
0028890665
-
Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein
-
Ligtenberg MJ, Kemp S, Sarde CO, et al. Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein. Am J Hum Genet. 1995;56:44-50.
-
(1995)
Am. J. Hum. Genet.
, vol.56
, pp. 44-50
-
-
Ligtenberg, M.J.1
Kemp, S.2
Sarde, C.O.3
-
89
-
-
0002277381
-
X-linked adrenoleukodystrophy
-
Scriver CRBA, Sly WS, et al, eds 7th ed. New York: McGraw-Hill Inc;
-
Moser H, Smith KD, Moser AB. X-linked adrenoleukodystrophy. In: Scriver CRBA, Sly WS, et al, eds. The Metabolic and Molecular Bases of Inherited Disease. 7th ed. New York: McGraw-Hill Inc; 1995: 2325-2349.
-
(1995)
Metabolic and Molecular Bases of Inherited Disease
, pp. 2325-2349
-
-
Moser, H.1
Smith, K.D.2
Moser, A.B.3
-
90
-
-
0026410751
-
Clinical aspects of adrenoleukodystrophy and adrenomyeloneuropathy
-
Moser HW, Moser AB, Naidu S, et al. Clinical aspects of adrenoleukodystrophy and adrenomyeloneuropathy. Dev Neurosci. 1991;13:254-261.
-
(1991)
Dev. Neurosci.
, vol.13
, pp. 254-261
-
-
Moser, H.W.1
Moser, A.B.2
Naidu, S.3
-
91
-
-
0016829831
-
Adrenoleukodystrophy a clinical and pathological study of 17 cases
-
Schaumburg HH, Powers JM, Raine CS, et al. Adrenoleukodystrophy. A clinical and pathological study of 17 cases. Arch Neurol. 1975;32:577-591.
-
(1975)
Arch. Neurol.
, vol.32
, pp. 577-591
-
-
Schaumburg, H.H.1
Powers, J.M.2
Raine, C.S.3
-
92
-
-
0034810289
-
Potential environmental and host participants in the early white matter lesion of adreno-leukodystrophy: Morphologic evidence for CD8 cytotoxic T cells, cytolysis of oligodendrocytes, and CD1-mediated lipid antigen presentation
-
Ito M, Blumberg BM, Mock DJ, et al. Potential environmental and host participants in the early white matter lesion of adreno-leukodystrophy: morphologic evidence for CD8 cytotoxic T cells, cytolysis of oligodendrocytes, and CD1-mediated lipid antigen presentation. J Neuropathol Exp Neurol. 2001;60:1004-1019. (Pubitemid 32924126)
-
(2001)
Journal of Neuropathology and Experimental Neurology
, vol.60
, Issue.10
, pp. 1004-1019
-
-
Ito, M.1
Blumberg, B.M.2
Mock, D.J.3
Goodman, A.D.4
Moser, A.B.5
Moser, H.W.6
Smith, K.D.7
Powers, J.M.8
-
93
-
-
0022365812
-
The retinopathy of primary hyperoxaluria
-
DOI 10.1097/00006982-198500530-00003
-
Traboulsi EI, el-Baba F, Barakat AY, et al. The retinopathy of primary hyperoxaluria. Retina. 1985;5:151-153. (Pubitemid 16214705)
-
(1985)
Retina
, vol.5
, Issue.3
, pp. 151-153
-
-
Traboulsi, E.I.1
El-Baba, F.2
Barakat, A.Y.3
Faris, B.M.4
-
94
-
-
1642341366
-
Mitochondriopathies
-
DOI 10.1046/j.1351-5101.2003.00728.x
-
Finsterer J. Mitochondriopathies. Eur J Neurol. 2004;11:163-186. (Pubitemid 38373033)
-
(2004)
European Journal of Neurology
, vol.11
, Issue.3
, pp. 163-186
-
-
Finsterer, J.1
-
95
-
-
36849091403
-
Mitochondrial disease: A practical approach for primary care physicians
-
DOI 10.1542/peds.2007-0391
-
Haas RH, Parikh S, Falk MJ, et al. Mitochondrial disease: a practical approach for primary care physicians. Pediatrics. 2007;120:1326-1333. (Pubitemid 350223685)
-
(2007)
Pediatrics
, vol.120
, Issue.6
, pp. 1326-1333
-
-
Haas, R.H.1
Parikh, S.2
Falk, M.J.3
Saneto, R.P.4
Wolf, N.I.5
Darin, N.6
Cohen, B.H.7
-
97
-
-
77957325795
-
Neurodevelopmental manifestations of mitochondrial disease
-
Falk MJ. Neurodevelopmental manifestations of mitochondrial disease. J Dev Behav Pediatr. 2010;31:610-621.
-
(2010)
J. Dev. Behav. Pediatr.
, vol.31
, pp. 610-621
-
-
Falk, M.J.1
-
99
-
-
84924635809
-
Retinitis pigmentosa external ophthalmophegia and complete heart block: Unusual syndrome with histologic study in one of two cases
-
Kearns TP, Sayre GP. Retinitis pigmentosa, external ophthalmophegia, and complete heart block: unusual syndrome with histologic study in one of two cases. AMA Arch Ophthalmol. 1958;60:280-289.
-
(1958)
AMA Arch. Ophthalmol.
, vol.60
, pp. 280-289
-
-
Kearns, T.P.1
Sayre, G.P.2
-
100
-
-
74549124431
-
Ophthalmological findings in children and young adults with genetically verified mitochondrial disease
-
Gronlund MA, Honarvar AK, Andersson S, et al. Ophthalmological findings in children and young adults with genetically verified mitochondrial disease. Br J Ophthalmol. 2010;94:121-127.
-
(2010)
Br. J. Ophthalmol.
, vol.94
, pp. 121-127
-
-
Gronlund, M.A.1
Honarvar, A.K.2
Andersson, S.3
-
101
-
-
79952277707
-
Multisystem disorder in late-onset chronic progressive external ophthalmoplegia
-
Pfeffer G, Sirrs S, Wade NK, et al. Multisystem disorder in late-onset chronic progressive external ophthalmoplegia. Can J Neurol Sci. 2011;38:119-123.
-
(2011)
Can. J. Neurol. Sci.
, vol.38
, pp. 119-123
-
-
Pfeffer, G.1
Sirrs, S.2
Wade, N.K.3
-
102
-
-
0031932272
-
Retinal manifestations in mitochondrial diseases associated with mitochondrial DNA mutation
-
Isashiki Y, Nakagawa M, Ohba N, et al. Retinal manifestations in mitochondrial diseases associated with mitochondrial DNA mutation. Acta Ophthalmol Scand. 1998;76:6-13. (Pubitemid 28120592)
-
(1998)
Acta Ophthalmologica Scandinavica
, vol.76
, Issue.1
, pp. 6-13
-
-
Isashiki, Y.1
Nakagawa, M.2
Ohba, N.3
Kamimura, K.4
Sakoda, Y.5
Higuchi, I.6
Izumo, S.7
Osame, M.8
-
103
-
-
0022344135
-
The retinal manifestations of mitochondrial myopathy. A study of 22 cases
-
Mullie MA, Harding AE, Petty RK, et al. The retinal manifestations of mitochondrial myopathy. A study of 22 cases. Arch Ophthalmol. 1985;103:1825-1830. (Pubitemid 16172017)
-
(1985)
Archives of Ophthalmology
, vol.103
, Issue.12
, pp. 1825-1830
-
-
Mullie, M.A.1
Harding, A.E.2
Petty, R.K.H.3
-
104
-
-
0029835610
-
Common missense mutation G1528C in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: Characterization and expression of the mutant protein, mutation analysis on genomic DNA and chromosomal localization of the mitochondrial trifunctional protein α subunit gene
-
IJlst L, Ruiter JP, Hoovers JM, et al. Common missense mutation G1528C in longchain 3-hydroxyacyl-CoA dehydrogenase deficiency. Characterization and expression of the mutant protein, mutation analysis on genomic DNA and chromosomal localization of the mitochondrial trifunctional protein alpha subunit gene. J Clin Invest. 1996;98:1028-1033. (Pubitemid 26293322)
-
(1996)
Journal of Clinical Investigation
, vol.98
, Issue.4
, pp. 1028-1033
-
-
Ijlst, L.1
Ruiter, J.P.N.2
Hoovers, J.M.N.3
Jakobs, M.E.4
Wanders, R.J.A.5
-
105
-
-
0026558042
-
Human liver long-chain 3-hydroxyacylcoenzyme a dehydrogenase is a multifunctional membrane-bound beta-oxidation enzyme of mitochondria
-
Carpenter K, Pollitt RJ, Middleton B. Human liver long-chain 3-hydroxyacylcoenzyme A dehydrogenase is a multifunctional membrane-bound beta-oxidation enzyme of mitochondria. Biochem Biophys Res Commun. 1992;183:443-448.
-
(1992)
Biochem. Biophys. Res. Commun.
, vol.183
, pp. 443-448
-
-
Carpenter, K.1
Pollitt, R.J.2
Middleton, B.3
-
106
-
-
0025868680
-
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
-
Jackson S, Bartlett K, Land J, et al. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Pediatr Res. 1991;29:406-411.
-
(1991)
Pediatr. Res.
, vol.29
, pp. 406-411
-
-
Jackson, S.1
Bartlett, K.2
Land, J.3
-
107
-
-
0026565361
-
Peripheral sensory-motor polyneuropathy pigmentary retinopathy and fatal cardiomyopathy in long-chain 3-hydroxyacyl- CoA dehydrogenase deficiency
-
Bertini E, Dionisi-Vici C, Garavaglia B, et al. Peripheral sensory-motor polyneuropathy, pigmentary retinopathy, and fatal cardiomyopathy in long-chain 3-hydroxyacyl- CoA dehydrogenase deficiency. Eur J Pediatr. 1992;151:121-126.
-
(1992)
Eur. J. Pediatr.
, vol.151
, pp. 121-126
-
-
Bertini, E.1
Dionisi-Vici, C.2
Garavaglia, B.3
-
108
-
-
0024353075
-
Sudden infant death and long-chain 3-hydroxyacyl-CoA dehydrogenase
-
Wanders RJ, Duran M, Ijlst L, et al. Sudden infant death and long-chain 3-hydroxyacyl-CoA dehydrogenase. Lancet. 1989;2:52-53. (Pubitemid 19158198)
-
(1989)
Lancet
, vol.2
, Issue.8653
, pp. 52-53
-
-
Wanders, R.J.A.1
Duran, M.2
Ijlst, L.3
De Jager, J.P.4
Van Gennip, A.H.5
Jakobs, C.6
Dorland, L.7
Van Sprang, F.J.8
-
109
-
-
0030992132
-
Retinal dystrophy in long chain 3-hydroxy-acyl-coA dehydrogenase deficiency
-
Schrijver-Wieling I, van Rens GH, Wittebol-Post D, et al. Retinal dystrophy in long chain 3-hydroxy-acyl-coA dehydrogenase deficiency. Br J Ophthalmol. 1997;81:291-294. (Pubitemid 27196758)
-
(1997)
British Journal of Ophthalmology
, vol.81
, Issue.4
, pp. 291-294
-
-
Schrijver-Wieling, I.1
Van Rens, G.H.M.B.2
Wittebol-Post, D.3
Smeitink, J.A.M.4
De Jager, J.P.5
De Klerk, H.B.C.6
Van Lith, G.H.M.7
-
111
-
-
34250878426
-
Expandable DNA repeats and human disease
-
DOI 10.1038/nature05977, PII NATURE05977
-
Mirkin SM. Expandable DNA repeats and human disease. Nature. 2007;447: 932-940. (Pubitemid 46975760)
-
(2007)
Nature
, vol.447
, Issue.7147
, pp. 932-940
-
-
Mirkin, S.M.1
-
112
-
-
77949775195
-
Repeat expansion disease: Progress and puzzles in disease pathogenesis
-
La Spada AR, Taylor JP. Repeat expansion disease: progress and puzzles in disease pathogenesis. Nat Rev Genet. 2010;11:247-258.
-
(2010)
Nat. Rev. Genet.
, vol.11
, pp. 247-258
-
-
La Spada, A.R.1
Taylor, J.P.2
-
113
-
-
25844438495
-
Repeat instability: Mechanisms of dynamic mutations
-
DOI 10.1038/nrg1689
-
Pearson CE, Nichol Edamura K, Cleary JD. Repeat instability: mechanisms of dynamic mutations. Nat Rev Genet. 2005;6:729-742. (Pubitemid 41400831)
-
(2005)
Nature Reviews Genetics
, vol.6
, Issue.10
, pp. 729-742
-
-
Pearson, C.E.1
Edamura, K.N.2
Cleary, J.D.3
-
114
-
-
70349125892
-
Neuro-ophthalmologic features of spinocerebellar ataxia type 7
-
Miller RC, Tewari A, Miller JA, et al. Neuro-ophthalmologic features of spinocerebellar ataxia type 7. J Neuroophthalmol. 2009;29:180-186.
-
(2009)
J. Neuroophthalmol.
, vol.29
, pp. 180-186
-
-
Miller, R.C.1
Tewari, A.2
Miller, J.A.3
-
115
-
-
65849122227
-
Molecular pathogenesis and cellular pathology of spinocerebellar ataxia type 7 neurodegeneration
-
Garden GA, La Spada AR. Molecular pathogenesis and cellular pathology of spinocerebellar ataxia type 7 neurodegeneration. Cerebellum. 2008;7:138-149.
-
(2008)
Cerebellum.
, vol.7
, pp. 138-149
-
-
Garden, G.A.1
La Spada, A.R.2
-
116
-
-
78049246333
-
Ophthalmologic features of the common spinocerebellar ataxias
-
Pula JH, Gomez CM, Kattah JC. Ophthalmologic features of the common spinocerebellar ataxias. Curr Opin Ophthalmol. 2010;21:447-453.
-
(2010)
Curr. Opin. Ophthalmol.
, vol.21
, pp. 447-453
-
-
Pula, J.H.1
Gomez, C.M.2
Kattah, J.C.3
-
117
-
-
18144383821
-
Anatomical and functional characteristics in atrophic maculopathy associated with spinocerebellar ataxia type 7
-
DOI 10.1016/j.ajo.2004.10.055
-
Ahn JK, Seo JM, Chung H, et al. Anatomical and functional characteristics in atrophic maculopathy associated with spinocerebellar ataxia type 7. Am J Ophthalmol. 2005;139:923-925. (Pubitemid 40614788)
-
(2005)
American Journal of Ophthalmology
, vol.139
, Issue.5
, pp. 923-925
-
-
Jae, K.A.1
Seo, J.-M.2
Chung, H.3
Hyeong, G.Y.4
-
118
-
-
0842345576
-
Spinocerebellar ataxia type 7 associated with pigmentary retinal dystrophy
-
DOI 10.1038/sj.ejhg.5201108
-
Michalik A, Martin JJ, Van Broeckhoven C. Spinocerebellar ataxia type 7 associated with pigmentary retinal dystrophy. Eur J Hum Genet. 2004;12:2-15. (Pubitemid 38180965)
-
(2004)
European Journal of Human Genetics
, vol.12
, Issue.1
, pp. 2-15
-
-
Michalik, A.1
Martin, J.-J.2
Van Broeckhoven, C.3
-
119
-
-
61749090887
-
Macular dysfunction and morphology in spinocerebellar ataxia type 7 SCA 7
-
Hugosson T, Granse L, Ponjavic V, et al. Macular dysfunction and morphology in spinocerebellar ataxia type 7 (SCA 7). Ophthalmic Genet. 2009;30:1-6.
-
(2009)
Ophthalmic. Genet.
, vol.30
, pp. 1-6
-
-
Hugosson, T.1
Granse, L.2
Ponjavic, V.3
-
120
-
-
0036353062
-
Spinocerebellar ataxia type 7 (SCA7) shows a cone-rod dystrophy phenotype
-
DOI 10.1006/exer.2002.1169
-
Aleman TS, Cideciyan AV, Volpe NJ, et al. Spinocerebellar ataxia type 7 (SCA7) shows a cone-rod dystrophy phenotype. Exp Eye Res. 2002;74:737-745. (Pubitemid 34948373)
-
(2002)
Experimental Eye Research
, vol.74
, Issue.6
, pp. 737-745
-
-
Aleman, T.S.1
Cideciyan, A.V.2
Volpe, N.J.3
Stevanin, G.4
Brice, A.5
Jacobson, S.G.6
-
121
-
-
21444450805
-
Clinical and molecular aspects of the myotonic dystrophies: A review
-
DOI 10.1002/mus.20301
-
Machuca-Tzili L, Brook D, Hilton-Jones D. Clinical and molecular aspects of the myotonic dystrophies: a review. Muscle Nerve. 2005;32:1-18. (Pubitemid 40917885)
-
(2005)
Muscle and Nerve
, vol.32
, Issue.1
, pp. 1-18
-
-
Machuca-Tzili, L.1
Brook, D.2
Hilton-Jones, D.3
-
123
-
-
0026603841
-
Myotonic dystrophy mutation: an unstable CTG repeat in the 30 untranslated region of the gene
-
Mahadevan M, Tsilfidis C, Sabourin L, et al. Myotonic dystrophy mutation: an unstable CTG repeat in the 30 untranslated region of the gene. Science. 1992;255:12 53-1255.
-
(1992)
Science
, vol.255
, Issue.12
, pp. 53-1255
-
-
Mahadevan, M.1
Tsilfidis, C.2
Sabourin, L.3
-
124
-
-
0035800434
-
Myotonic dystrophy type 2 caused by a CCTG expansion in intron I of ZNF9
-
DOI 10.1126/science.1062125
-
Liquori CL, Ricker K, Moseley ML, et al. Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Science. 2001;293:864-867. (Pubitemid 32743976)
-
(2001)
Science
, vol.293
, Issue.5531
, pp. 864-867
-
-
Liquori, C.L.1
Ricker, K.2
Moseley, M.L.3
Jacobsen, J.F.4
Kress, W.5
Naylor, S.L.6
Day, J.W.7
Ranum, L.P.W.8
-
125
-
-
2342461060
-
Myotonic Dystrophy: RNA Pathogenesis Comes into Focus
-
DOI 10.1086/383590
-
Ranum LP, Day JW. Myotonic dystrophy: RNA pathogenesis comes into focus. Am J Hum Genet. 2004;74:793-804. (Pubitemid 38568955)
-
(2004)
American Journal of Human Genetics
, vol.74
, Issue.5
, pp. 793-804
-
-
Ranum, L.P.W.1
Day, J.W.2
-
126
-
-
0037465516
-
Myotonic dystrophy type 2: Molecular, diagnostic and clinical spectrum
-
Day JW, Ricker K, Jacobsen JF, et al. Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum. Neurology. 2003;60:657-664. (Pubitemid 36246086)
-
(2003)
Neurology
, vol.60
, Issue.4
, pp. 657-664
-
-
Day, J.W.1
Ricker, K.2
Jacobsen, J.F.3
Rasmussen, L.J.4
Dick, K.A.5
Kress, W.6
Schneider, C.7
Koch, M.C.8
Beilman, G.J.9
Harrison, A.R.10
Dalton, J.C.11
Ranum, L.P.W.12
-
127
-
-
0027212456
-
Retinal changes in myotonic dystrophy: Clinical and follow-up evaluation
-
Kimizuka Y, Kiyosawa M, Tamai M, et al. Retinal changes in myotonic dystrophy. Clinical and follow-up evaluation. Retina. 1993;13:129-135. (Pubitemid 23177777)
-
(1993)
Retina
, vol.13
, Issue.2
, pp. 129-135
-
-
Kimizuka, Y.1
Kiyosawa, M.2
Tamai, M.3
Takase, S.4
-
129
-
-
77950940259
-
Spontaneous bilateral lamellar macular holes and foveal schisis associated with myotonic dystrophy type 1
-
Krishnan R, Lochhead J. Spontaneous bilateral lamellar macular holes and foveal schisis associated with myotonic dystrophy type 1. Clin Exp Ophthalmol. 2010;38:82-84.
-
(2010)
Clin. Exp. Ophthalmol.
, vol.38
, pp. 82-84
-
-
Krishnan, R.1
Lochhead, J.2
-
130
-
-
79851490879
-
Spontaneous bilateral lamellar macular holes and foveal schisis associated with myotonic dystrophy type 1: Comment
-
author reply 9
-
Chauhan D, Georgalas I. Spontaneous bilateral lamellar macular holes and foveal schisis associated with myotonic dystrophy type 1: comment. Clin Exp Ophthalmol. 2011;39:88-89; author reply 9.
-
(2011)
Clin. Exp. Ophthalmol.
, vol.39
, pp. 88-89
-
-
Chauhan, D.1
Georgalas, I.2
-
131
-
-
79955014012
-
A comprehensive description of the severity groups in cockayne syndrome
-
Natale V. A comprehensive description of the severity groups in Cockayne syndrome. Am J Med Genet A. 2011;155A:1081-1095.
-
(2011)
Am. J. Med. Genet. A.
, vol.155 A
, pp. 1081-1095
-
-
Natale, V.1
-
132
-
-
42249101874
-
Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum Cockayne syndrome and trichothiodystrophy
-
Kleijer WJ, Laugel V, Berneburg M, et al. Incidence of DNA repair deficiency disorders in western Europe: xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy. DNA Repair (Amst). 2008;7:744-750.
-
(2008)
DNA Repair Amst.
, vol.7
, pp. 744-750
-
-
Kleijer, W.J.1
Laugel, V.2
Berneburg, M.3
-
133
-
-
3142739449
-
DNA damage stabilizes interaction of CSB with the transcription elongation machinery
-
DOI 10.1083/jcb.200401056
-
van den Boom V, Citterio E, Hoogstraten D, et al. DNA damage stabilizes interaction of CSB with the transcription elongation machinery. J Cell Biol. 2004;166:27-36. (Pubitemid 38931914)
-
(2004)
Journal of Cell Biology
, vol.166
, Issue.1
, pp. 27-36
-
-
Van Den Boom, V.1
Citterio, E.2
Hoogstraten, D.3
Zotter, A.4
Egly, J.-M.5
Van Cappellen, W.A.6
Hoeijmakers, J.H.J.7
Houtsmuller, A.B.8
Vermeulen, W.9
-
134
-
-
0031891880
-
Molecular analysis of mutations in the CSB (ERCC6) gene in patients with cockayne syndrome
-
DOI 10.1086/301686
-
Mallery DL, Tanganelli B, Colella S, et al. Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome. Am J Hum Genet. 1998;62: 77-85. (Pubitemid 28093837)
-
(1998)
American Journal of Human Genetics
, vol.62
, Issue.1
, pp. 77-85
-
-
Mallery, D.L.1
Tanganelli, B.2
Colella, S.3
Steingrimsdottir, H.4
Van Gool, A.J.5
Troelstra, C.6
Stefanini, M.7
Lehmann, A.R.8
-
135
-
-
0002362694
-
Dwarfism with retinal atrophy and deafness
-
Cockayne EA. Dwarfism with retinal atrophy and deafness. Arch Dis Child. 1936;11:1-8.
-
(1936)
Arch. Dis. Child.
, vol.11
, pp. 1-8
-
-
Cockayne, E.A.1
-
136
-
-
0037253076
-
Ocular manifestations in the inherited DNA repair disorders
-
DOI 10.1016/S0039-6257(02)00400-9, PII S0039625702004009
-
Dollfus H, Porto F, Caussade P, et al. Ocular manifestations in the inherited DNA repair disorders. Surv Ophthalmol. 2003;48:107-122. (Pubitemid 36138824)
-
(2003)
Survey of Ophthalmology
, vol.48
, Issue.1
, pp. 107-122
-
-
Dollfus, H.1
Porto, F.2
Caussade, P.3
Speeg-Schatz, C.4
Sahel, J.5
Grosshans, E.6
Flament, J.7
Sarasin, A.8
-
138
-
-
0020620561
-
Histopathology of the eye in cockaynes syndrome
-
Levin PS, Green WR, Victor DI, et al. Histopathology of the eye in Cockayne's syndrome. Arch Ophthalmol. 1983;101:1093-1097.
-
(1983)
Arch. Ophthalmol.
, vol.101
, pp. 1093-1097
-
-
Levin, P.S.1
Green, W.R.2
Victor, D.I.3
-
139
-
-
0025292712
-
Identification of mutations in the COL4A5 collagen gene in alport syndrome
-
Barker DF, Hostikka SL, Zhou J, et al. Identification of mutations in the COL4A5 collagen gene in Alport syndrome. Science. 1990;248:1224-1227.
-
(1990)
Science
, vol.248
, pp. 1224-1227
-
-
Barker, D.F.1
Hostikka, S.L.2
Zhou, J.3
-
140
-
-
0025174012
-
Identification of a distinct type IV collagen alpha chain with restricted kidney distribution and assignment of its gene to the locus of X chromosome-linked alport syndrome
-
USA.
-
Hostikka SL, Eddy RL, Byers MG, et al. Identification of a distinct type IV collagen alpha chain with restricted kidney distribution and assignment of its gene to the locus of X chromosome-linked Alport syndrome. Proc Natl Acad Sci USA. 1990;87: 1606-1610.
-
(1990)
Proc. Natl. Acad. Sci.
, vol.87
, pp. 1606-1610
-
-
Hostikka, S.L.1
Eddy, R.L.2
Byers, M.G.3
-
141
-
-
0030913337
-
The clinical spectrum of type IV collagen mutations
-
DOI 10.1002/(SICI)1098-1004(1997)9:6<477::AID-HUMU1>3.0.CO;2-#
-
Lemmink HH, Schroder CH, Monnens LA, et al. The clinical spectrum of type IV collagen mutations. Hum Mutat. 1997;9:477-499. (Pubitemid 27250812)
-
(1997)
Human Mutation
, vol.9
, Issue.6
, pp. 477-499
-
-
Lemmink, H.H.1
Schroder, C.H.2
Monnens, L.A.H.3
Smeets, H.J.M.4
-
142
-
-
65249093635
-
Autosomal dominant alport syndrome: Molecular analysis of the COL4A4 gene and clinical outcome
-
Marcocci E, Uliana V, Bruttini M, et al. Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome. Nephrol Dial Transplant. 2009;24:1464-1471.
-
(2009)
Nephrol. Dial. Transplant.
, vol.24
, pp. 1464-1471
-
-
Marcocci, E.1
Uliana, V.2
Bruttini, M.3
-
143
-
-
23144432647
-
Alport syndrome in southern Sweden
-
Persson U, Hertz JM, Wieslander J, et al. Alport syndrome in southern Sweden. Clin Nephrol. 2005;64:85-90. (Pubitemid 41079003)
-
(2005)
Clinical Nephrology
, vol.64
, Issue.2
, pp. 85-90
-
-
Persson, U.1
Hertz, J.M.2
Wieslander, J.3
Segelmark, M.4
-
144
-
-
0029825683
-
Alport's syndrome in 78 patients: Epidemiological and clinical study
-
Pajari H, Kaariainen H, Muhonen T, et al. Alport's syndrome in 78 patients: epidemiological and clinical study. Acta Paediatr. 1996;85:1300-1306. (Pubitemid 26382376)
-
(1996)
Acta Paediatrica, International Journal of Paediatrics
, vol.85
, Issue.11
, pp. 1300-1306
-
-
Pajari, H.1
Kaariainen, H.2
Muhonen, T.3
Koskimies, O.4
-
145
-
-
72749118815
-
Molecular testing for adult type Alport syndrome
-
Pont-Kingdon G, Sumner K, Gedge F, et al. Molecular testing for adult type Alport syndrome. BMC Nephrol. 2009;10:38.
-
(2009)
BMC Nephrol.
, vol.10
, pp. 38
-
-
Pont-Kingdon, G.1
Sumner, K.2
Gedge, F.3
-
146
-
-
0031473018
-
Alport syndrome. A review of the ocular manifestations
-
Colville DJ, Savige J. Alport syndrome. A review of the ocular manifestations. Ophthalmic Genet. 1997;18:161-173. (Pubitemid 28039523)
-
(1997)
Ophthalmic Genetics
, vol.18
, Issue.4
, pp. 161-173
-
-
Colville, D.J.1
Savige, J.2
-
147
-
-
0020626685
-
Ocular manifestations of Alport's syndrome: A hereditary disorder of basement membranes?
-
Govan JA. Ocular manifestations of Alport's syndrome: a hereditary disorder of basement membranes? Br J Ophthalmol. 1983;67:493-503. (Pubitemid 13028249)
-
(1983)
British Journal of Ophthalmology
, vol.67
, Issue.8
, pp. 493-503
-
-
Govan, J.A.A.1
-
148
-
-
72449157447
-
Retinal findings in patients with alport syndrome: Expanding the clinical spectrum
-
Fawzi AA, Lee NG, Eliott D, et al. Retinal findings in patients with Alport Syndrome: expanding the clinical spectrum. Br J Ophthalmol. 2009;93:1606-1611.
-
(2009)
Br. J. Ophthalmol.
, vol.93
, pp. 1606-1611
-
-
Fawzi, A.A.1
Lee, N.G.2
Eliott, D.3
-
149
-
-
77949889531
-
Retinal basement membrane abnormalities and the retinopathy of alport syndrome
-
Savige J, Liu J, DeBuc DC, et al. Retinal basement membrane abnormalities and the retinopathy of Alport syndrome. Invest Ophthalmol Vis Sci. 2010;51: 1621-1627.
-
(2010)
Invest. Ophthalmol. Vis. Sci.
, vol.51
, pp. 1621-1627
-
-
Savige, J.1
Liu, J.2
DeBuc, D.C.3
-
150
-
-
33846020929
-
Characterization of the peripheral retinopathy in X-linked and autosomal recessive Alport syndrome
-
DOI 10.1093/ndt/gfl607, Special Issue on Pediatric Overweight
-
Shaw EA, Colville D, Wang YY, et al. Characterization of the peripheral retinopathy in X-linked and autosomal recessive Alport syndrome. Nephrol Dial Transplant. 2007;22:104-108. (Pubitemid 46050334)
-
(2007)
Nephrology Dialysis Transplantation
, vol.22
, Issue.1
, pp. 104-108
-
-
Shaw, E.A.1
Colville, D.2
Wang, Y.Y.3
Zhang, K.W.4
Dagher, H.5
Fassett, R.6
Guymer, R.7
Savige, J.8
-
152
-
-
0001327424
-
Malformation of the erythrocytes in a case of atypical retinitis pigmentosa
-
Bassen FA, Kornzweig AL. Malformation of the erythrocytes in a case of atypical retinitis pigmentosa. Blood. 1950;5:381-387.
-
(1950)
Blood
, vol.5
, pp. 381-387
-
-
Bassen, F.A.1
Kornzweig, A.L.2
-
153
-
-
47349123253
-
Abetalipoproteinemia: Two case reports and literature review
-
Zamel R, Khan R, Pollex RL, et al. Abetalipoproteinemia: two case reports and literature review. Orphanet J Rare Dis. 2008;3:19.
-
(2008)
Orphanet. J. Rare. Dis.
, vol.3
, pp. 19
-
-
Zamel, R.1
Khan, R.2
Pollex, R.L.3
-
154
-
-
0027716370
-
Abetalipoproteinemia is caused by defects of the gene encoding the 97 kDa subunit of a microsomal triglyceride transfer protein
-
Shoulders CC, Brett DJ, Bayliss JD, et al. Abetalipoproteinemia is caused by defects of the gene encoding the 97 kDa subunit of a microsomal triglyceride transfer protein. Hum Mol Genet. 1993;2:2109-2116. (Pubitemid 24003406)
-
(1993)
Human Molecular Genetics
, vol.2
, Issue.12
, pp. 2109-2116
-
-
Shoulders, C.C.1
Brett, D.J.2
Bayliss, J.D.3
Narcisi, T.M.E.4
Jarmuz, A.5
Grantham, T.T.6
Leoni, P.R.D.7
Bhattacharya, S.8
Pease, R.J.9
Cullen, P.M.10
Levi, S.11
Byfield, P.G.H.12
Purkiss, P.13
Scott, J.14
-
155
-
-
0347595514
-
Treatment of retinal and choroidal degenerations and dystrophies: Current status and prospects for gene-based therapy
-
DOI 10.1016/S0896-1549(03)00072-5
-
Weleber RG, Kurz DE, Trzupek KM. Treatment of retinal and choroidal degenerations and dystrophies: current status and prospects for gene-based therapy. Ophthalmol Clin North Am. 2003;16:583-593vii. (Pubitemid 38044993)
-
(2003)
Ophthalmology Clinics of North America
, vol.16
, Issue.4
, pp. 583-593
-
-
Weleber, R.G.1
Kurz, D.E.2
Trzupek, K.M.3
-
156
-
-
0022449983
-
Oral vitamin E supplements can prevent the retinopathy of abetalipoproteinaemia
-
Runge P, Muller DP, McAllister J, et al. Oral vitamin E supplements can prevent the retinopathy of abetalipoproteinaemia. Br J Ophthalmol. 1986;70:166-173. (Pubitemid 16086753)
-
(1986)
British Journal of Ophthalmology
, vol.70
, Issue.3
, pp. 166-173
-
-
Runge, P.1
Muller, D.P.R.2
McAllister, J.3
-
158
-
-
0023407033
-
Angioid streaks associated with abetalipoproteinemia case report
-
Duker JS, Belmont J, Bosley TM. Angioid streaks associated with abetalipoproteinemia. Case report. Arch Ophthalmol. 1987;105:1173-1174.
-
(1987)
Arch. Ophthalmol.
, vol.105
, pp. 1173-1174
-
-
Duker, J.S.1
Belmont, J.2
Bosley, T.M.3
-
159
-
-
0028603311
-
Angioid streaks associated with abetalipoproteinemia
-
Gorin MB, Paul TO, Rader DJ. Angioid streaks associated with abetalipoproteinemia. Ophthalmic Genet. 1994;15:151-159.
-
(1994)
Ophthalmic. Genet.
, vol.15
, pp. 151-159
-
-
Gorin, M.B.1
Paul, T.O.2
Rader, D.J.3
-
160
-
-
0027430101
-
Friedreich's ataxia phenotype not linked to chromosome 9 and associated with selective autosomal recessive vitamin E deficiency in two inbred Tunisian families
-
Ben Hamida M, Belal S, Sirugo G, et al. Friedreich's ataxia phenotype not linked to chromosome 9 and associated with selective autosomal recessive vitamin E deficiency in two inbred Tunisian families. Neurology. 1993;43:2179-2183. (Pubitemid 23346943)
-
(1993)
Neurology
, vol.43
, Issue.11
, pp. 2179-2183
-
-
Hamida, M.B.1
Belal, S.2
Sirugo, G.3
Hamida, C.B.4
Panayides, K.5
Ionannou, P.6
Beckmann, J.7
Mandel, J.L.8
Hentati, F.9
Koenig, M.10
Middleton, L.11
-
161
-
-
0027514838
-
Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping
-
DOI 10.1038/ng1093-195
-
Ben Hamida C, Doerflinger N, Belal S, et al. Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping. Nat Genet. 1993;5:195-200. (Pubitemid 23293458)
-
(1993)
Nature Genetics
, vol.5
, Issue.2
, pp. 195-200
-
-
Hamida, C.B.1
Doerflinger, N.2
Belal, S.3
Linder, C.4
Reutenauer, L.5
Dib, C.6
Gyapay, G.7
Vignal, A.8
Le Paslier, D.9
Cohen, D.10
Pandolfo, M.11
Mokini, V.12
Novelli, G.13
Hentati, F.14
Hamida, M.B.15
Mandel, J.-L.16
Koenig, M.17
-
162
-
-
0042594614
-
The molecular basis of vitamin E retention: Structure of human α-tocopherol transfer protein
-
DOI 10.1016/S0022-2836(03)00724-1
-
Meier R, Tomizaki T, Schulze-Briese C, et al. The molecular basis of vitamin E retention: structure of human alpha-tocopherol transfer protein. J Mol Biol. 2003;331:725-734. (Pubitemid 36937156)
-
(2003)
Journal of Molecular Biology
, vol.331
, Issue.3
, pp. 725-734
-
-
Meier, R.1
Tomizaki, T.2
Schulze-Briese, C.3
Baumann, U.4
Stocker, A.5
-
163
-
-
0028876572
-
Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein
-
Ouahchi K, Arita M, Kayden H, et al. Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein. Nat Genet. 1995;9: 141-145.
-
(1995)
Nat. Genet.
, vol.9
, pp. 141-145
-
-
Ouahchi, K.1
Arita, M.2
Kayden, H.3
-
165
-
-
0035689695
-
Clinicopathological report of retinitis pigmentosa with vitamin E deficiency caused by mutation of the α-tocopherol transfer protein gene
-
DOI 10.1016/S0021-5155(01)00425-7, PII S0021515501004257
-
Pang J, Kiyosawa M, Seko Y, et al. Clinicopathological report of retinitis pigmentosa with vitamin E deficiency caused by mutation of the alpha-tocopherol transfer protein gene. Jpn J Ophthalmol. 2001;45:672-676. (Pubitemid 34081789)
-
(2001)
Japanese Journal of Ophthalmology
, vol.45
, Issue.6
, pp. 672-676
-
-
Pang, J.1
Kiyosawa, M.2
Seko, Y.3
Yokota, T.4
Harino, S.5
Suzuki, J.6
-
166
-
-
0030610585
-
101Gln mutation of the α-tocopherol transfer protein gene
-
DOI 10.1002/ana.410410621
-
Yokota T, Shiojiri T, Gotoda T, et al. Friedreich-like ataxia with retinitis pigmentosa caused by the His101Gln mutation of the alpha-tocopherol transfer protein gene. Ann Neurol. 1997;41:826-832. (Pubitemid 27249190)
-
(1997)
Annals of Neurology
, vol.41
, Issue.6
, pp. 826-832
-
-
Yokota, T.1
Shiojiri, T.2
Gotoda, T.3
Arita, M.4
Arai, H.5
Ohga, T.6
Kanda, T.7
Suzuki, J.8
Imai, T.9
Matsumoto, H.10
Harino, S.11
Kiyosawa, M.12
Mizusawa, H.13
Inoue, K.14
-
167
-
-
0032989008
-
Treatment of ataxia in isolated vitamin E deficiency caused by α- tocopherol transfer protein deficiency
-
DOI 10.1016/S0022-3476(99)70424-5
-
Schuelke M, Mayatepek E, Inter M, et al. Treatment of ataxia in isolated vitamin E deficiency caused by alpha-tocopherol transfer protein deficiency. J Pediatr. 1999;134:240-244. (Pubitemid 29089053)
-
(1999)
Journal of Pediatrics
, vol.134
, Issue.2
, pp. 240-244
-
-
Schuelke, M.1
Mayatepek, E.2
Inter, M.3
Becker, M.4
Pfeiffer, E.5
Speer, A.6
Hubner, C.7
Finckh, B.8
-
168
-
-
73749086315
-
Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria cblC type and utility of methionine as a secondary screening analyte
-
Weisfeld-Adams JD, Morrissey MA, Kirmse BM, et al. Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte. Mol Genet Metab. 2010;99:116-123.
-
(2010)
Mol. Genet. Metab.
, vol.99
, pp. 116-123
-
-
Weisfeld-Adams, J.D.1
Morrissey, M.A.2
Kirmse, B.M.3
-
170
-
-
29444451094
-
Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type
-
DOI 10.1038/ng1683
-
Lerner-Ellis JP, Tirone JC, Pawelek PD, et al. Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type. Nat Genet. 2006;38: 93-100. (Pubitemid 43011888)
-
(2006)
Nature Genetics
, vol.38
, Issue.1
, pp. 93-100
-
-
Lerner-Ellis, J.P.1
Tirone, J.C.2
Pawelek, P.D.3
Dore, C.4
Atkinson, J.L.5
Watkins, D.6
Morel, C.F.7
Fujiwara, T.M.8
Moras, E.9
Hosack, A.R.10
Dunbar, G.V.11
Antonicka, H.12
Forgetta, V.13
Dobson, C.M.14
Leclerc, D.15
Gravel, R.A.16
Shoubridge, E.A.17
Coulton, J.W.18
Lepage, P.19
Rommens, J.M.20
Morgan, K.21
Rosenblatt, D.S.22
more..
-
171
-
-
0030843127
-
Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC)
-
DOI 10.1023/A:1005353530303
-
Rosenblatt DS, Aspler AL, Shevell MI, et al. Seashore MR. Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC). J Inherit Metab Dis. 1997;20:528-538. (Pubitemid 27354848)
-
(1997)
Journal of Inherited Metabolic Disease
, vol.20
, Issue.4
, pp. 528-538
-
-
Rosenblatt, D.S.1
Aspler, A.L.2
Shevell, M.I.3
Pletcher, B.A.4
Fenton, W.A.5
Seashore, M.R.6
-
172
-
-
23844492956
-
Maculopathy and retinal degeneration in cobalamin C methylmalonic aciduria and homocystinuria
-
DOI 10.1001/archopht.123.8.1143
-
Tsina EK, Marsden DL, Hansen RM, et al. Maculopathy and retinal degeneration in cobalamin C methylmalonic aciduria and homocystinuria. Arch Ophthalmol. 2005; 123:1143-1146. (Pubitemid 41159315)
-
(2005)
Archives of Ophthalmology
, vol.123
, Issue.8
, pp. 1143-1146
-
-
Tsina, E.K.1
Marsden, D.L.2
Hansen, R.M.3
Fulton, A.B.4
-
173
-
-
33645097806
-
The natural history of retinal degeneration in association with cobalamin C cbl C disease
-
Schimel AM, Mets MB. The natural history of retinal degeneration in association with cobalamin C (cbl C) disease. Ophthalmic Genet. 2006;27:9-14.
-
(2006)
Ophthalmic. Genet.
, vol.27
, pp. 9-14
-
-
Schimel, A.M.1
Mets, M.B.2
-
174
-
-
78349294253
-
Methylmalonic aciduria and homocystinuriaassociated maculopathy
-
(Lond).
-
Francis JH, Rao L, Rosen RB. Methylmalonic aciduria and homocystinuriaassociated maculopathy. Eye (Lond). 2010;24:1731-1732.
-
(2010)
Eye
, vol.24
, pp. 1731-1732
-
-
Francis, J.H.1
Rao, L.2
Rosen, R.B.3
|