-
1
-
-
0036589965
-
Myoclonic dystonia as unique presentation of isolated vitamin E deficiency in a young patient
-
DOI 10.1002/mds.10026
-
Angelini L, Erba A, Mariotti C, Gellera C, Ciano C, Nardocci N (2002) Myoclonic dystonia as unique presentation of isolated vitamin E deficiency in a young patient. Mov Disord 17(3):612-614 (Pubitemid 36040983)
-
(2002)
Movement Disorders
, vol.17
, Issue.3
, pp. 612-614
-
-
Angelini, L.1
Erba, A.2
Mariotti, C.3
Gellera, C.4
Ciano, C.5
Nardocci, N.6
-
2
-
-
76549131779
-
Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: Implications for clinical management
-
Epub 2009 May 14
-
Anheim M, Fleury M, Monga B, Laugel V, Chaigne D, Rodier G, Ginglinger E, Boulay C, Courtois S, Drouot N, Fritsch M, Delaunoy JP, Stoppa-Lyonnet D, Tranchant C, Koenig M (2010) Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management. Neurogenetics 11(1):1-12 (Epub 2009 May 14)
-
(2010)
Neurogenetics
, vol.11
, Issue.1
, pp. 1-12
-
-
Anheim, M.1
Fleury, M.2
Monga, B.3
Laugel, V.4
Chaigne, D.5
Rodier, G.6
Ginglinger, E.7
Boulay, C.8
Courtois, S.9
Drouot, N.10
Fritsch, M.11
Delaunoy, J.P.12
Stoppa-Lyonnet, D.13
Tranchant, C.14
Koenig, M.15
-
3
-
-
0034865703
-
Ataxia with isolated vitamin E deficiency: Case report and review of the literature
-
DOI 10.1097/00005176-200108000-00022
-
Aparicio JM, Belanger Quintana A, Suarez L, Mayo D, Benitez J, Diaz M, Escobar H (2001) Ataxia with isolated vitamin E deficiency: case report and review of the literature. J Pediatr Gastroenterol Nutr 33:206-210 (Pubitemid 32802823)
-
(2001)
Journal of Pediatric Gastroenterology and Nutrition
, vol.33
, Issue.2
, pp. 206-210
-
-
Aparicio, J.M.1
Belanger-Quintana, A.2
Suarez, L.3
Mayo, D.4
Benitez, J.5
Diaz, M.6
Escobar, H.7
-
4
-
-
0028986393
-
Human alpha-tocopherol transfer protein: CDNA cloning, expression and chromosomal localization
-
Arita M, Sato Y, Miyata A, Tanabe T, Takahashi E, Kayden HJ, Arai H, Inoue K (1995) Human alpha-tocopherol transfer protein: cDNA cloning, expression and chromosomal localization. Biochem J 306(Pt. 2):437-443
-
(1995)
Biochem J
, vol.306
, Issue.PART. 2
, pp. 437-443
-
-
Arita, M.1
Sato, Y.2
Miyata, A.3
Tanabe, T.4
Takahashi, E.5
Kayden, H.J.6
Arai, H.7
Inoue, K.8
-
5
-
-
67649300675
-
Ataxia with vitamin e deficiency (AVED): An example of the contribution of research in molecular genetic to counselling in Morocco
-
Epub 2008 Nov 26
-
Bellayou H, Dehbi H, Bourezgui M, Slassi I, Nadifi S (2009) Ataxia with vitamin E deficiency (AVED): an example of the contribution of research in molecular genetic to counselling in Morocco. Pathol Biol (Paris) 57(5):425-426 (Epub 2008 Nov 26)
-
(2009)
Pathol Biol (Paris)
, vol.57
, Issue.5
, pp. 425-426
-
-
Bellayou, H.1
Dehbi, H.2
Bourezgui, M.3
Slassi, I.4
Nadifi, S.5
-
6
-
-
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, Linder C, Reutenauer L, Dib C, Gyapay G, Vignal A, Le Paslier D, Cohen D et al (1993) Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping. Nat Genet 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
-
7
-
-
0037098629
-
Clinical comparison between AVED patients with 744 del a mutation and Friedreich ataxia with GAA expansion in 15 Moroccan families
-
DOI 10.1016/S0022-510X(02)00057-6, PII S0022510X02000576
-
Benomar A, Yahyaoui M, Meggouh F, Bouhouche A, Boutchich M, Bouslam N, Zaim A, Schmitt M, Belaidi H, Ouazzani R, Chkili T, Koenig M (2002) Clinical comparison between AVED patients with 744 del A mutation and Friedreich ataxia with GAA expansion in 15 Moroccan families. J Neurol Sci 198:25-29 (Pubitemid 38367351)
-
(2002)
Journal of the Neurological Sciences
, vol.198
, Issue.1-2
, pp. 25-29
-
-
Benomar, A.1
Yahyaoui, M.2
Meggouh, F.3
Bouhouche, A.4
Boutchich, M.5
Bouslam, N.6
Zaim, A.7
Schmitt, M.8
Belaidi, H.9
Ouazzani, R.10
Chkili, T.11
Koenig, M.12
-
8
-
-
58149102217
-
Autosomal recessive ataxia caused by three distinct gene defects in a single consanguineous family
-
Bouhlal Y, Zouari M, Kefi M, Ben Hamida C, Hentati F, Amouri R (2008) Autosomal recessive ataxia caused by three distinct gene defects in a single consanguineous family. J Neurogenet 22(2):139-148
-
(2008)
J Neurogenet
, vol.22
, Issue.2
, pp. 139-148
-
-
Bouhlal, Y.1
Zouari, M.2
Kefi, M.3
Ben Hamida, C.4
Hentati, F.5
Amouri, R.6
-
9
-
-
0019521975
-
Neuromyopathy and vitamin E deficiency in man
-
Burck U, Goebel HH, Kuhlendahl HD, Meier C, Goebel KM (1981) Neuromyopathy and vitamin E deficiency in man. Neuropediatrics 12:267-278 (Pubitemid 11046991)
-
(1981)
Neuropediatrics
, vol.12
, Issue.3
, pp. 267-278
-
-
Burck, U.1
Goebel, H.H.2
Kuhlendahl, H.D.3
-
10
-
-
0031889483
-
Ataxia with isolated vitamin E deficiency: Heterogeneity of mutations and phenotypic variability in a large number of families
-
DOI 10.1086/301699
-
Cavalier L, Ouahchi K, Kayden HJ, Di Donato S, Reutenauer L, Mandel JL, Koenig M (1998) Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families. Am J Hum Genet 62:301-310 (Pubitemid 28110772)
-
(1998)
American Journal of Human Genetics
, vol.62
, Issue.2
, pp. 301-310
-
-
Cavalier, L.1
Ouahchi, K.2
Kayden, H.J.3
Di Donato, S.4
Reutenauer, L.5
Mandel, J.-L.6
Koenig, M.7
-
11
-
-
0036897427
-
A family with spinocerebellar ataxia type 8 expansion and vitamin E deficiency ataxia
-
DOI 10.1001/archneur.59.12.1952
-
Cellini E, Piacentini S, Nacmias B, Forleo P, Tedde A, Bagnoli S, Ciantelli M, Sorbi S (2002) A family with spinocerebellar ataxia type 8 expansion and vitamin E deficiency ataxia. Arch Neurol 59:1952-1953 (Pubitemid 35424655)
-
(2002)
Archives of Neurology
, vol.59
, Issue.12
, pp. 1952-1953
-
-
Cellini, E.1
Piacentini, S.2
Nacmias, B.3
Forleo, P.4
Tedde, A.5
Bagnoli, S.6
Ciantelli, M.7
Sorbi, S.8
-
12
-
-
0035178023
-
The complex clinical and genetic classification of inherited ataxias. II. Autosomal recessive ataxias
-
DOI 10.1007/s100720100017
-
Di Donato S, Gallera C, Mariotti C (2001) The complex clinical and genetic classification of inherited ataxias II. Autosomal recessiva atraxias. Neurol Sci 22(3):219-228 (review) (Pubitemid 33085679)
-
(2001)
Neurological Sciences
, vol.22
, Issue.3
, pp. 219-228
-
-
Di Donato, S.1
Gellera, C.2
Mariotti, C.3
-
13
-
-
33744461838
-
Efficacious vitamin E treatment in a child with ataxia with isolated vitamin E deficiency
-
DOI 10.1007/s00431-006-0085-4
-
Doria-Lamba L, De Grandis E, Cristiani E, Fiocchi I, Montaldi L, Grosso P, Gellera C (2006) Efficacious vitamin E treatment in a child with ataxia with isolated vitamin E deficiency. Eur J Pediatr 165(7):494-495 (Epub 2006 Feb 21) (Pubitemid 43800533)
-
(2006)
European Journal of Pediatrics
, vol.165
, Issue.7
, pp. 494-495
-
-
Doria-Lamba, L.1
De Grandis, E.2
Cristiani, E.3
Fiocchi, I.4
Montaldi, L.5
Grosso, P.6
Gellera, C.7
-
14
-
-
33744499469
-
Recent advances in vitamin E metabolism and deficiency
-
DOI 10.1007/s00431-006-0084-5
-
Eggermont E (2006) Recent advances in vitamin E metabolism and deficiency. Eur J Pediatr 165(7):429-434 (Epub 2006 Feb 21, review) (Pubitemid 43800520)
-
(2006)
European Journal of Pediatrics
, vol.165
, Issue.7
, pp. 429-434
-
-
Eggermont, E.1
-
15
-
-
55749115433
-
A novel delins mutation in the alpha-TTP gene in a family segregating ataxia with isolated vitamin e deficiency
-
Fernández-Burriel M, Martínez-Rubio D, Lupo V, Pérez-Colosía V, Piñán-López E, Palau F, Espinós C (2008) A novel delins mutation in the alpha-TTP gene in a family segregating ataxia with isolated vitamin E deficiency. Pediatr Res 64(3):262-264
-
(2008)
Pediatr Res
, vol.64
, Issue.3
, pp. 262-264
-
-
Fernández-Burriel, M.1
Martínez-Rubio, D.2
Lupo, V.3
Pérez-Colosía, V.4
Piñán-López, E.5
Palau, F.6
Espinós, C.7
-
16
-
-
33846882183
-
Clinical features and molecular genetics of autosomal recessive cerebellar ataxias
-
DOI 10.1016/S1474-4422(07)70054-6, PII S1474442207700546
-
Fogel BL, Perlman S (2007) Clinical features and molecular genetics of autosomal recessive cerebellar ataxias. Lancet Neurol 6(3):245-257 (review) (Pubitemid 46228080)
-
(2007)
Lancet Neurology
, vol.6
, Issue.3
, pp. 245-257
-
-
Fogel, B.L.1
Perlman, S.2
-
17
-
-
0035726073
-
Effect of vitamin E supplementation in patients with ataxia with vitamin E deficiency
-
DOI 10.1046/j.1468-1331.2001.00273.x
-
Gabsi S, Gouider-Khouja N, Belal S, Fki M, Kefi M, Turki I, Ben Hamida M, Kayden H, Mebazaa R, Hentati F (2001) Effect of vitamin E supplementation in patients with ataxia with vitamin E deficiency. Eur J Neurol 8:477-481 (Pubitemid 34203442)
-
(2001)
European Journal of Neurology
, vol.8
, Issue.5
, pp. 477-481
-
-
Gabsi, S.1
Gouider-Khouja, N.2
Belal, S.3
Fki, M.4
Kefi, M.5
Turki, I.6
Ben Hamida, M.7
Kayden, H.8
Mebazaa, R.9
Hentati, F.10
-
18
-
-
58149117675
-
Reply to drug insight: Antioxidant therapy in inherited ataxias
-
E1; author reply E2
-
Gohil K, Azzi A (2008) Reply to drug insight: antioxidant therapy in inherited ataxias. Nat Clin Pract Neurol 4(7):E1; author reply E2
-
(2008)
Nat Clin Pract Neurol
, vol.4
, Issue.7
-
-
Gohil, K.1
Azzi, A.2
-
19
-
-
0028871764
-
Adult-onset spinocerebellar dysfunction caused by a mutation in the gene for the alpha-tocopherol-transfer protein
-
Gotoda T, Arita M, Arai H, Inoue K, Yokota T, Fukuo Y, Yazaki Y, Yamada N (1995) Adult-onset spinocerebellar dysfunction caused by a mutation in the gene for the alpha-tocopherol-transfer protein. N Engl J Med 333:1313-1318
-
(1995)
N Engl J Med
, vol.333
, pp. 1313-1318
-
-
Gotoda, T.1
Arita, M.2
Arai, H.3
Inoue, K.4
Yokota, T.5
Fukuo, Y.6
Yazaki, Y.7
Yamada, N.8
-
20
-
-
0029936866
-
Human α-tocopherol transfer protein: Gene structure and mutations in familial vitamin E deficiency
-
DOI 10.1002/ana.410390305
-
Hentati A, Deng HX, Hung WY, Nayer M, Ahmed MS, He X, Tim R, Stumpf DA, Siddique T (1996) Human alpha-tocopherol transfer protein: gene structure and mutations in familial vitamin E deficiency. Ann Neurol 39:295-300 (Pubitemid 26100752)
-
(1996)
Annals of Neurology
, vol.39
, Issue.3
, pp. 295-300
-
-
Hentati, A.1
Deng, H.-X.2
Hung, W.-Y.3
Nayer, M.4
Said Ahmed, M.5
He, X.6
Tim, R.7
Stumpf, D.A.8
Siddique, T.9
-
21
-
-
0033015723
-
Ataxia with isolated vitamin E deficiency: A Japanese family carrying a novel mutation in the α-tocopherol transfer protein gene
-
DOI 10.1002/1531-8249(199906)45:6<809::AID-ANA19>3.0.CO;2-9
-
Hoshino M, Masuda N, Ito Y, Murata M, Goto J, Sakurai M, Kanazawa I (1999) Ataxia with isolated vitamin E protei deficiency: a Japanese family carrying a novel mutation in the alphatocopherol transfer n gene. Ann Neurol 45(6):809-812 (Pubitemid 29260762)
-
(1999)
Annals of Neurology
, vol.45
, Issue.6
, pp. 809-812
-
-
Hoshino, M.1
Masuda, N.2
Ito, Y.3
Murata, M.4
Goto, J.5
Sakurai, M.6
Kanazawa, I.7
-
22
-
-
58149373393
-
Ataxia with vitamin e deficiency associated with deafness
-
Kara B, Uzümcü A, Uyguner O, Rosti RO, Koçbaş A, Ozmen M, Kayserili H (2008) Ataxia with vitamin E deficiency associated with deafness. Turk J Pediatr 50(5):471-475
-
(2008)
Turk J Pediatr
, vol.50
, Issue.5
, pp. 471-475
-
-
Kara, B.1
Uzümcü, A.2
Uyguner, O.3
Rosti, R.O.4
Koçbaş, A.5
Ozmen, M.6
Kayserili, H.7
-
23
-
-
67651250376
-
Ataxia with vitamin e deficiency in southeast Norway, case report
-
Koht J, Bjørnara KA, Jørum E, Tallaksen CM (2009) Ataxia with vitamin E deficiency in southeast Norway, case report. Acta Neurol Scand Suppl (189):42-45
-
(2009)
Acta Neurol Scand Suppl
, Issue.189
, pp. 42-45
-
-
Koht, J.1
Bjørnara, K.A.2
Jørum, E.3
Tallaksen, C.M.4
-
24
-
-
0342813045
-
Deciphering the cause of Friedreich ataxia
-
DOI 10.1016/S0959-4388(97)80090-6
-
Koenig M, Mandel JL (1997) Deciphering the cause of Friedreich ataxia. Curr Opin Neurobiol 7(5):689-694 (Pubitemid 27500830)
-
(1997)
Current Opinion in Neurobiology
, vol.7
, Issue.5
, pp. 689-694
-
-
Koenig, M.1
Mandel, J.-L.2
-
25
-
-
34347399046
-
The alpha-tocopherol transfer protein
-
Manor D, Morley S (2007) The alpha-tocopherol transfer protein. Vitam Horm 76:45-65
-
(2007)
Vitam Horm
, vol.76
, pp. 45-65
-
-
Manor, D.1
Morley, S.2
-
26
-
-
4344617804
-
Ataxia with isolated vitamin E deficiency: Neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families
-
Mariotti C, Gellera C, Rimoldi M, Mineri R, Uziel G, Zorzi G, Pareyson D, Piccolo G, Gambi D, Piacentini S, Squitieri F, Capra R, Castellotti B, Di Donato S (2004) Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families. Neurol Sci. 25:130-137 (Pubitemid 39136660)
-
(2004)
Neurological Sciences
, vol.25
, Issue.3
, pp. 130-137
-
-
Mariotti, C.1
Gellera, C.2
Rimondi, M.3
Mineri, R.4
Uziel, G.5
Zorzi, G.6
Pareyson, D.7
Piccolo, G.8
Gambi, D.9
Piacentini, S.10
Squitieri, F.11
Capra, R.12
Castelloti, B.13
Di Donato, S.14
-
27
-
-
0032054375
-
Supplemental therapy in isolated vitamin E deficiency improves the peripheral neuropathy and prevents the progression of ataxia
-
DOI 10.1016/S0022-510X(98)00038-0, PII S0022510X98000380
-
Martinello F, Fardin P, Ottina M, Ricchieri GL, Koening M, Cavalier L, Trevisan CP (1998) Supplemental therapy in isolated vitamin E deficiency improves the peripheral neuropathy and prevents the progression of ataxia. J Neurol Sci 156:177-179 (Pubitemid 28186471)
-
(1998)
Journal of the Neurological Sciences
, vol.156
, Issue.2
, pp. 177-179
-
-
Martinello, F.1
Fardin, P.2
Ottina, M.3
Ricchieri, G.L.4
Koenig, M.5
Cavalier, L.6
Trevisan, C.P.7
-
28
-
-
18844445901
-
Vitamin E deficiency ataxia with (744 del A) mutation on α-TTP gene: Genetic and clinical peculiarities in Moroccan patients
-
DOI 10.1016/j.ejmg.2005.01.014, PII S1769721205000200
-
Marzouki N, Benomar A, Yahyaoui M, Birouk N, Elouazzani M, Chkili T, Benlemlih M (2005) Vitamin E deficiency ataxia with (744 del A) mutation on alpha-TTP gene: genetic and clinical peculiarities in Moroccan patients. Eur J Med Genet. 48:21-28 (Pubitemid 40692224)
-
(2005)
European Journal of Medical Genetics
, vol.48
, Issue.1
, pp. 21-28
-
-
Marzouki, N.1
Benomar, A.2
Yahyaoui, M.3
Birouk, N.4
Elouazzani, M.5
Chkili, T.6
Benlemlih, M.7
-
29
-
-
0031845469
-
Assessment of the safety of supplementation with different amounts of vitamin E in healthy older adults
-
Meydani SN, Meydani M, Blumberg JB et al (1998) Assessment of the safety of supplementation with different amounts of vitamin E in healthy older adults. Am J Clin Nutr 68:311-318 (Pubitemid 28355648)
-
(1998)
American Journal of Clinical Nutrition
, vol.68
, Issue.2
, pp. 311-318
-
-
Meydani, S.N.1
Meydani, M.2
Blumberg, J.B.3
Leka, L.S.4
Pedrosa, M.5
Diamond, R.6
Schaefer, E.J.7
-
31
-
-
34347368866
-
Structure and function of alpha-tocopherol transfer protein: Implications for vitamin e metabolism and AVED
-
review
-
Min CK (2007) Structure and function of alpha-tocopherol transfer protein: implications for vitamin E metabolism and AVED. Vitam Horm 76:23-43 (review)
-
(2007)
Vitam Horm
, vol.76
, pp. 23-43
-
-
Min, C.K.1
-
32
-
-
31544464049
-
Utility of a fluorescent vitamin E analogue as a probe for tocopherol transfer protein activity
-
DOI 10.1021/bi052271y
-
Morley S, Cross V, Cecchini M, Nava P, Atkinson J, Manor D (2006) Utility of a fluorescent vitamin E analogue as a probe for tocopherol transfer protein activity. Biochemistry 45(4):1075-1081 (Pubitemid 43167174)
-
(2006)
Biochemistry
, vol.45
, Issue.4
, pp. 1075-1081
-
-
Morley, S.1
Cross, V.2
Cecchini, M.3
Nava, P.4
Atkinson, J.5
Manor, D.6
-
33
-
-
0028876572
-
Ataxia with isolated vitamin e deficiency is caused by mutations in the alphatocopherol transfer protein
-
Ouahchi K, Arita M, Kayden H, Hentati F, Ben Hamida M, Sokol R, Arai H, Inoue K, Mandel JL, Koenig M (1995) Ataxia with isolated vitamin E deficiency is caused by mutations in the alphatocopherol transfer protein. Nat Genet 9:141-145
-
(1995)
Nat Genet
, vol.9
, pp. 141-145
-
-
Ouahchi, K.1
Arita, M.2
Kayden, H.3
Hentati, F.4
Ben Hamida, M.5
Sokol, R.6
Arai, H.7
Inoue, K.8
Mandel, J.L.9
Koenig, M.10
-
34
-
-
34248181247
-
Autosomal recessive cerebellar ataxias
-
Palau F, Espinós C (2006) Autosomal recessive cerebellar ataxias. Orphanet J Rare Dis 1:47
-
(2006)
Orphanet J Rare Dis
, vol.1
, pp. 47
-
-
Palau, F.1
Espinós, C.2
-
35
-
-
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, Yokota T, Harino S, Suzuki J (2001) Clinicopathological report of retinitis pigmentosa with vitamin E deficiency caused by mutation of the alpha-tocopherol transfer protein gene. Jpn J Ophthalmol 45(6):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
-
36
-
-
34347226277
-
First case of ataxia with isolated vitamin E deficiency in the Netherlands
-
DOI 10.1016/j.parkreldis.2006.06.011, PII S1353802006001544
-
Ponten SC, Kwee ML, Wolters E Ch, Zijlmans JC (2007) First case of ataxia with isolated vitamin E deficiency in the Netherland. Parkinsonism Relat Disord 13(5):315-316 (Epub 2006 Oct 16) (Pubitemid 47002324)
-
(2007)
Parkinsonism and Related Disorders
, vol.13
, Issue.5
, pp. 315-316
-
-
Ponten, S.C.1
Kwee, M.L.2
Wolters, E.Ch.3
Zijlmans, J.C.M.4
-
37
-
-
33745828134
-
Biochemical consequences of heritable mutations in the α-tocopherol transfer protein
-
DOI 10.1021/bi060522c
-
Qian J, Atkinson J, Manor D (2006) Biochemical consequences of heritable mutations in the alpha-tocopherol transfer protein. Biochemistry 45(27):8236-8242 (Pubitemid 44036529)
-
(2006)
Biochemistry
, vol.45
, Issue.27
, pp. 8236-8242
-
-
Qian, J.1
Atkinson, J.2
Manor, D.3
-
38
-
-
35448981428
-
Vitamin E and neurodegenerative diseases
-
DOI 10.1016/j.mam.2007.01.004, PII S0098299707000143, Vitamin E: An Overview of Major Research Directions
-
Ricciarelli R, Argellati F, Pronzato MA, Domenicotti C (2007) Vitamin E and neurodegenerative diseases. Mol Aspects Med 28(5-6):591-606 (Epub 2007 Jan 11, review) (Pubitemid 47625531)
-
(2007)
Molecular Aspects of Medicine
, vol.28
, Issue.5-6
, pp. 591-606
-
-
Ricciarelli, R.1
Argellati, F.2
Pronzato, M.A.3
Domenicotti, C.4
-
39
-
-
0041665159
-
Ataxia with vitamin E deficiency and severe dystonia: Report of a case
-
DOI 10.1016/S0387-7604(03)00054-8
-
Roubertie A, Biolsi B, Rivier F, Humbertclaude V, Cheminal R, Echenne B (2003) Ataxia with vitamin E deficiency and severe dystonia: report of a case. Brain Dev 25(6):442-445 (Pubitemid 36945431)
-
(2003)
Brain and Development
, vol.25
, Issue.6
, pp. 442-445
-
-
Roubertie, A.1
Biolsi, B.2
Rivier, F.3
Humbertclaude, V.4
Cheminal, R.5
Echenne, B.6
-
40
-
-
0027228282
-
Primary structure of α-tocopherol transfer protein from rat liver. Homology with cellular retinaldehyde-binding protein
-
Sato Y, Arai H, Miyata A, Tokita S, Yamamoto K, Tanabe T, Inoue K (1993) Primary structure of alpha-tocopherol transfer protein from rat liver. Homology with cellular retinaldehydebinding protein. J Biol Chem. 268:17705-17710 (Pubitemid 23260275)
-
(1993)
Journal of Biological Chemistry
, vol.268
, Issue.24
, pp. 17705-17710
-
-
Sato, Y.1
Arai, H.2
Miyata, A.3
Tokita, S.4
Yamamoto, K.5
Tanabe, T.6
Inoue, K.7
-
41
-
-
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 (1999) Treatment of ataxia in isolated vitamin E deficiency caused by a-tocopherol transfer protein deficiency. J Pediatr 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
-
42
-
-
0034727631
-
Ataxia with vitamin e deficiency: Biochemical effects of malcompliance with vitamin e therapy
-
Schuelke M, Finckh B, Sistermans EA, Ausems MG, Hübner C, von Moers A (2000) Ataxia with vitamin E deficiency: biochemical effects of malcompliance with vitamin E therapy. Neurology 55(10):1584-1586
-
(2000)
Neurology
, vol.55
, Issue.10
, pp. 1584-1586
-
-
Schuelke, M.1
Finckh, B.2
Sistermans, E.A.3
Ausems, M.G.4
Hübner, C.5
Von Moers, A.6
-
43
-
-
17144465611
-
Ataxia with isolated vitamin E deficiency and retinitis pigmentosa [2]
-
Shimohata T, Date H, Ishiguro H, Suzuki T, Takano H, Tanaka H, Tsuji S, Hirota K (1998) Ataxia with isolated vitamin E deficiency and retinitis pigmentosa. Ann Neurol 43:273 (Pubitemid 28110134)
-
(1998)
Annals of Neurology
, vol.43
, Issue.2
, pp. 273
-
-
Shimohata, T.1
Date, H.2
Ishiguro, H.3
Suzuki, T.4
Takano, H.5
Tanaka, H.6
Tsuji, S.7
Hirota, K.8
-
44
-
-
45449123054
-
Isolated vitamin e deficiency in the absence of fat malabsorption familial and sporadic cases: Characterization and investigation of causes
-
Sokol RJ, Kayden HJ, Bettis DB, Traber MG, Neville H, Ringel S et al (1988) Isolated vitamin E deficiency in the absence of fat malabsorption familial and sporadic cases: characterization and investigation of causes. J Lab Clin Med 111:548-559
-
(1988)
J Lab Clin Med
, vol.111
, pp. 548-559
-
-
Sokol, R.J.1
Kayden, H.J.2
Bettis, D.B.3
Traber, M.G.4
Neville, H.5
Ringel, S.6
-
45
-
-
0030850990
-
α-Tocopherol transfer protein gene: Exon skipping of all transcripts causes ataxia
-
Tamaru Y, Hirano M, Kusaka H, Ito H, Imai T, Ueno S (1997) alpha-Tocopherol transfer protein gene: exon skipping of all transcripts causes ataxia. Neurology 49(2):584-588 (Pubitemid 27368906)
-
(1997)
Neurology
, vol.49
, Issue.2
, pp. 584-588
-
-
Tamaru, Y.1
Hirano, M.2
Kusaka, H.3
Ito, H.4
Imai, T.5
Ueno, S.6
-
46
-
-
77956762805
-
Regulation of human plasma vitamin e
-
review
-
Traber MG (1997) Regulation of human plasma vitamin E. Adv Pharmacol 38:49-63 (review)
-
(1997)
Adv Pharmacol
, vol.38
, pp. 49-63
-
-
Traber, M.G.1
-
47
-
-
0033910697
-
Ataxia caused by mutations in the α-tocopherol transfer protein gene
-
DOI 10.1136/jnnp.69.2.254
-
Usuki F, Maruyama K (2000) Ataxia caused by mutations in the alpha-tocopherol transfer protein gene. J Neurol Neurosurg Psychiatry 69:254-256 (Pubitemid 30466036)
-
(2000)
Journal of Neurology Neurosurgery and Psychiatry
, vol.69
, Issue.2
, pp. 254-256
-
-
Usuki, F.1
Maruyama, K.2
-
48
-
-
0023194189
-
Adult-onset spinocerebellar syndrome with idiopathic vitamin E deficiency
-
DOI 10.1002/ana.410220119
-
Yokota T, Wada Y, Furukawa T, Tsukagoshi H, Uchihara T, Watabiki S (1987) Adult-onset spinocerebellar syndrome with idiopathic vitamin E deficiency. Ann Neurol 22:84-87 (Pubitemid 17088753)
-
(1987)
Annals of Neurology
, vol.22
, Issue.1
, pp. 84-87
-
-
Yokota, T.1
Wada, Y.2
Furukawa, T.3
-
49
-
-
0029975810
-
Retinitis pigmentosa and ataxia caused by a mutation in the gene for the α-tocopherol-transfer protein [5]
-
DOI 10.1056/NEJM199612053352315
-
Yokota T, Shiojiri T, Gotoda T, Arai H (1996) Retinitis pigmentosa and ataxia caused by a mutation in the gene for the a-tocopherol transfer protein. N Engl J Med 335:1770-1771 (Pubitemid 26399359)
-
(1996)
New England Journal of Medicine
, vol.335
, Issue.23
, pp. 1770-1771
-
-
Yokota, T.1
Shiojiri, T.2
Gotoda, T.3
Arai, H.4
-
50
-
-
0030610585
-
101Gln mutation of the α-tocopherol transfer protein gene
-
DOI 10.1002/ana.410410621
-
Yokota T, Shiojiri T, Gotoda T (1997) Friedreich-like ataxia with retinitis pigmentosa caused by the His101Gln mutation of a-tocopherol transfer protein gene. Ann Neurol 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
-
51
-
-
0034059016
-
Postmortem study of ataxia with retinitis pigmentosa by mutation of the α-tocopherol transfer protein gene
-
DOI 10.1136/jnnp.68.4.521
-
Yokota T, Uchihara T, Kumagai J, Shiojiri T, Pang JJ, Arita M (2000) Postmortem study of ataxia with retinitis pigmentosa by mutation of the a-tocopherol transfer protein gene. J Neurol Neurosurg Psychiatry 68(4):521-525 (Pubitemid 30248758)
-
(2000)
Journal of Neurology Neurosurgery and Psychiatry
, vol.68
, Issue.4
, pp. 521-525
-
-
Yokota, T.1
Uchihara, T.2
Kumagai, J.3
Shiojiri, T.4
Pang, J.J.5
Arita, M.6
Arai, H.7
Hayashi, M.8
Kiyosawa, M.9
Okeda, R.10
Mizusawa, H.11
-
52
-
-
35448977648
-
Vitamin E: An overview of major research directions
-
Epub 2007 Jun 2
-
Zingg JM (2007) Vitamin E: an overview of major research directions. Mol Aspects Med 28(5-6):400-422 (Epub 2007 Jun 2)
-
(2007)
Mol Aspects Med
, vol.28
, Issue.5-6
, pp. 400-422
-
-
Zingg, J.M.1
|