-
1
-
-
0019521975
-
Neuromyopathy and vitamin E deficiency in man
-
Burck U, Goebel HH, et al: Neuromyopathy and vitamin E deficiency in man. Neuropediatrics 12:267-278, 1981
-
(1981)
Neuropediatrics
, vol.12
, pp. 267-278
-
-
Burck, U.1
Goebel, H.H.2
-
2
-
-
0027514838
-
Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping
-
Ben Hamida C, Doerflinger N, et al: Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping. Nat Genet 5:195-200, 1993
-
(1993)
Nat Genet
, vol.5
, pp. 195-200
-
-
Ben Hamida, C.1
Doerflinger, N.2
-
3
-
-
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, 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 43:2179-2183, 1993
-
(1993)
Neurology
, vol.43
, pp. 2179-2183
-
-
Ben Hamida, M.1
Belal, S.2
-
4
-
-
0031889483
-
Ataxia with isolated vitamin E deficiency: Heterogeneity of mutations and phenotypic variability in a large number of families
-
Cavalier L, Ouahchi K, et al: 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, 1998
-
(1998)
Am J Hum Genet
, vol.62
, pp. 301-310
-
-
Cavalier, L.1
Ouahchi, K.2
-
5
-
-
0030610585
-
Friedreich-like ataxia with retinitis pigmentosa caused by the His 101Gln mutation of the alpha-tocopherol transfer protein gene
-
Yokota T, Shiojiri T, et al: Friedreich-like ataxia with retinitis pigmentosa caused by the His 101Gln mutation of the alpha-tocopherol transfer protein gene. Ann Neurol 41:826-832, 1997
-
(1997)
Ann Neurol
, vol.41
, pp. 826-832
-
-
Yokota, T.1
Shiojiri, T.2
-
6
-
-
17144465611
-
Ataxia with isolated vitamin E deficiency and retinitis pigmentosa
-
Shimohata T, Date H, et al: Ataxia with isolated vitamin E deficiency and retinitis pigmentosa. Ann Neurol 43:273, 1998
-
(1998)
Ann Neurol
, vol.43
, pp. 273
-
-
Shimohata, T.1
Date, H.2
-
7
-
-
0037098629
-
Clinical comparison between AVED patients with 744 del A mutation and Friedreich ataxia with GAA expansion in 15 Moroccan families
-
Benomar A, Yahyaoui M, et al: 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, 2002
-
(2002)
J Neurol Sci
, vol.198
, pp. 25-29
-
-
Benomar, A.1
Yahyaoui, M.2
-
8
-
-
0030965366
-
Friedreich's ataxia with isolated vitamin E deficiency: A neuropathological study of a Tunisian patient
-
Larnaout A, Belal S, et al: Friedreich's ataxia with isolated vitamin E deficiency: A neuropathological study of a Tunisian patient. Acta Neuropathol (Berl) 93:633-637, 1997
-
(1997)
Acta Neuropathol (Berl)
, vol.93
, pp. 633-637
-
-
Larnaout, A.1
Belal, S.2
-
9
-
-
0032145061
-
Electrophysiology and nerve biopsy: Comparative study in Friedreich's ataxia and Friedreich's ataxia phenotype with vitamin E deficiency
-
Zouari M, Feki M, et al: Electrophysiology and nerve biopsy: Comparative study in Friedreich's ataxia and Friedreich's ataxia phenotype with vitamin E deficiency. Neuromuscul Disord 8:416-425, 1998
-
(1998)
Neuromuscul Disord
, vol.8
, pp. 416-425
-
-
Zouari, M.1
Feki, M.2
-
10
-
-
0021719188
-
A progressive neurological syndrome associated with an isolated vitamin E deficiency
-
Laplante P, Vanasse M, et al: A progressive neurological syndrome associated with an isolated vitamin E deficiency. Can J Neurol Sci 11 (Suppl 4):561-564, 1984
-
(1984)
Can J Neurol Sci
, vol.11
, Issue.SUPPL. 4
, pp. 561-564
-
-
Laplante, P.1
Vanasse, M.2
-
11
-
-
0023078341
-
Friedreich's disease: Variant form with vitamin E deficiency and normal fat absorption
-
Stumpf DA, Sokol R, et al: Friedreich's disease: Variant form with vitamin E deficiency and normal fat absorption. Neurology 37:68-74, 1987
-
(1987)
Neurology
, vol.37
, pp. 68-74
-
-
Stumpf, D.A.1
Sokol, R.2
-
12
-
-
0023194189
-
Adult-onset spinocerebellar syndrome with idiopathic vitamin E deficiency
-
Yokota T, Wada Y, et al: Adult-onset spinocerebellar syndrome with idiopathic vitamin E deficiency. Ann Neurol 22:84-87, 1987
-
(1987)
Ann Neurol
, vol.22
, pp. 84-87
-
-
Yokota, T.1
Wada, Y.2
-
14
-
-
0023788497
-
A treatable familial neuromyopathy with vitamin E deficiency, normal absorption, and evidence of increased consumption of vitamin E
-
Kohlschutter A, Hubner C, et al: A treatable familial neuromyopathy with vitamin E deficiency, normal absorption, and evidence of increased consumption of vitamin E. J Inherit Metab Dis 11 (Suppl 2):149-152, 1988
-
(1988)
J Inherit Metab Dis
, vol.11
, Issue.SUPPL. 2
, pp. 149-152
-
-
Kohlschutter, A.1
Hubner, C.2
-
15
-
-
0029081880
-
Familial isolated vitamin E deficiency. Extensive study of a large family with a 5-year therapeutic follow-up
-
Amiel J, Maziere JC, et al: Familial isolated vitamin E deficiency. Extensive study of a large family with a 5-year therapeutic follow-up. J Inherit Metabl Dis 18:333-340, 1995
-
(1995)
J Inherit Metabl Dis
, vol.18
, pp. 333-340
-
-
Amiel, J.1
Maziere, J.C.2
-
16
-
-
0032989008
-
Treatment of ataxia in isolated vitamin E deficiency caused by alpha-tocopherol transfer protein deficiency
-
Schuelke M, Mayatepek E, et al: Treatment of ataxia in isolated vitamin E deficiency caused by alpha-tocopherol transfer protein deficiency. J Pediatr 134:240-244, 1999
-
(1999)
J Pediatr
, vol.134
, pp. 240-244
-
-
Schuelke, M.1
Mayatepek, E.2
-
17
-
-
0021868458
-
Spinocerebellar degeneration associated with a selective defect of vitamin E absorption
-
Harding A, Matthews ES, et al: Spinocerebellar degeneration associated with a selective defect of vitamin E absorption. N Engl J Med 313:32-35, 1985
-
(1985)
N Engl J Med
, vol.313
, pp. 32-35
-
-
Harding, A.1
Matthews, E.S.2
-
18
-
-
0027378046
-
The neurologic syndrome of vitamin E deficiency: A significant cause of ataxia
-
Kayden HJ: The neurologic syndrome of vitamin E deficiency: A significant cause of ataxia. Neurology 43:2167-2169, 1993
-
(1993)
Neurology
, vol.43
, pp. 2167-2169
-
-
Kayden, H.J.1
-
19
-
-
0025733716
-
Purification and characterization of the alpha-tocopherol transfer protein from rat liver
-
Sato Y, Hagiwara K, et al: Purification and characterization of the alpha-tocopherol transfer protein from rat liver. FEBS Lett 288:41-45, 1991
-
(1991)
FEBS Lett
, vol.288
, pp. 41-45
-
-
Sato, Y.1
Hagiwara, K.2
-
20
-
-
0028871764
-
Adult-onset spinocerebellar dysfunction caused by a mutation in the gene for the alpha-tocopherol-transfer protein
-
Gotoda T, Arita M, et al: 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
-
(1995)
N Engl J Med
, vol.333
, pp. 1313-1318
-
-
Gotoda, T.1
Arita, M.2
-
21
-
-
0028876572
-
Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein
-
Ouahchi K, Arita M, et al: Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein. Nat Genet 9:141-145, 1995
-
(1995)
Nat Genet
, vol.9
, pp. 141-145
-
-
Ouahchi, K.1
Arita, M.2
-
22
-
-
0025138431
-
Impaired ability of patients with familial isolated vitamin E deficiency to incorporate alpha-tocopherol into lipoproteins secreted by the liver
-
Traber MG, Sokol RJ, et al: Impaired ability of patients with familial isolated vitamin E deficiency to incorporate alpha-tocopherol into lipoproteins secreted by the liver. J Clin Invest 85:397-407, 1990
-
(1990)
J Clin Invest
, vol.85
, pp. 397-407
-
-
Traber, M.G.1
Sokol, R.J.2
-
23
-
-
0027464942
-
Impaired discrimination between stereoisomers of alpha-tocopherol in patients with familial isolated vitamin E deficiency
-
Traber MG, Sokol RJ, et al: Impaired discrimination between stereoisomers of alpha-tocopherol in patients with familial isolated vitamin E deficiency. J Lipid Res 34:201-210, 1993
-
(1993)
J Lipid Res
, vol.34
, pp. 201-210
-
-
Traber, M.G.1
Sokol, R.J.2
-
24
-
-
0028077110
-
Human plasma vitamin E kinetics demonstrate rapid recycling of plasma RRR-alpha-tocopherol
-
Traber MG, Ramakrishnan R, et al: Human plasma vitamin E kinetics demonstrate rapid recycling of plasma RRR-alpha-tocopherol. Proc Natl Acad Sci U S A 91:10005-10008, 1994
-
(1994)
Proc Natl Acad Sci U S A
, vol.91
, pp. 10005-10008
-
-
Traber, M.G.1
Ramakrishnan, R.2
-
25
-
-
0028986393
-
Human alpha-tocopherol transfer protein: cDNA cloning, expression and chromosomal localization
-
Arita M, Sato Y, et al: Human alpha-tocopherol transfer protein: cDNA cloning, expression and chromosomal localization, Biochem J 306:437-443, 1995
-
(1995)
Biochem J
, vol.306
, pp. 437-443
-
-
Arita, M.1
Sato, Y.2
-
26
-
-
0032054375
-
Supplemental therapy in isolated vitamin E deficiency improves the peripheral neuropathy and prevents the progression of ataxia
-
Martinello F, Fardin P, et al: Supplemental therapy in isolated vitamin E deficiency improves the peripheral neuropathy and prevents the progression of ataxia. J Neurol Sci 156:177-179, 1998
-
(1998)
J Neurol Sci
, vol.156
, pp. 177-179
-
-
Martinello, F.1
Fardin, P.2
-
27
-
-
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 5:381-387, 1950
-
(1950)
Blood
, vol.5
, pp. 381-387
-
-
Bassen, F.A.1
Kornzweig, A.L.2
-
28
-
-
0000520494
-
Atypical retinitis pigmentosa, acanthocytosis, and heredode generative neuromuscular disease
-
Jampel RS, Falls HF: Atypical retinitis pigmentosa, acanthocytosis, and heredodegenerative neuromuscular disease. Arch Ophthalmol 59:818, 1958
-
(1958)
Arch Ophthalmol
, vol.59
, pp. 818
-
-
Jampel, R.S.1
Falls, H.F.2
-
29
-
-
0002214805
-
Abetalipoproteinemia
-
Klockgether T (ed). New York, Marcel Dekker
-
Kohlschutter A: Abetalipoproteinemia, in Klockgether T (ed): Handbook of Aaxia Disorders. New York, Marcel Dekker, 2000, pp 205-221
-
(2000)
Handbook of Aaxia Disorders
, pp. 205-221
-
-
Kohlschutter, A.1
-
30
-
-
0026470990
-
Absence of microsomal triglyceride transfer protein in individuals with abetalipoproteinemia
-
Wetterau JR, Aggerbeck LP, et al: Absence of microsomal triglyceride transfer protein in individuals with abetalipoproteinemia. Science 258:999-1001, 1992
-
(1992)
Science
, vol.258
, pp. 999-1001
-
-
Wetterau, J.R.1
Aggerbeck, L.P.2
-
31
-
-
0027428820
-
Cloning and gene defects in microsomal triglyceride transfer protein associated with abetalipoproteinaemia
-
Sharp D, Blinderman L, et al: Cloning and gene defects in microsomal triglyceride transfer protein associated with abetalipoproteinaemia. Nature 365:65-69, 1993
-
(1993)
Nature
, vol.365
, pp. 65-69
-
-
Sharp, D.1
Blinderman, L.2
-
32
-
-
0000683245
-
Disorders of the biogenesis and secretion of lipoproteins containing the B apolipo proteins
-
Scriver C, Beaudet A, Sly W, et al, (eds). New York, McGraw-Hill
-
Kane JP, Havel RJ: Disorders of the biogenesis and secretion of lipoproteins containing the B apolipoproteins, in Scriver C, Beaudet A, Sly W, et al, (eds): The Metabolic and Molecular Bases of Inherited Disease. New York, McGraw-Hill, 2001, pp 2717-2752
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 2717-2752
-
-
Kane, J.P.1
Havel, R.J.2
-
33
-
-
0002248566
-
Heredopathia atactica polyneuritiformis: A familial syndrome not hitherto described. A contribution to the clinical study of the hereditary disorders of the nervous system
-
Refsum S: Heredopathia atactica polyneuritiformis: A familial syndrome not hitherto described. A contribution to the clinical study of the hereditary disorders of the nervous system. Acta Psychiatr Scand Suppl 38:946, 1946
-
(1946)
Acta Psychiatr Scand Suppl
, vol.38
, pp. 946
-
-
Refsum, S.1
-
34
-
-
0001435689
-
Uber das Vorkommen der 3.7.11.15-Tetramethyl hexadecansäure (Phytansäure) in den Cholesterinestern und anderen Lipoidfraktionen der Organe bei einem Krankheitsfall unbekannter Genese (Verdacht auf Heredopathia Atactica Polyneuritiformis Refsum Syndrome)
-
Klenk E, Kahlke W: Uber das Vorkommen der 3.7.11.15-Tetramethyl hexadecansäure (Phytansäure) in den Cholesterinestern und anderen Lipoidfraktionen der Organe bei einem Krankheitsfall unbekannter Genese (Verdacht auf Heredopathia Atactica Polyneuritiformis Refsum Syndrome). Hoppe-Seyler Z Physiol Chem 333:133-139, 1963
-
(1963)
Hoppe-Seyler Z Physiol Chem
, vol.333
, pp. 133-139
-
-
Klenk, E.1
Kahlke, W.2
-
35
-
-
0002402552
-
Heredopathia atactica polyneuritiformis: Refsum disease
-
Klockgether T (ed). New York, Marcel Dekker
-
Gibberd FB, Wierzbicki AS: Heredopathia atactica polyneuritiformis: Refsum disease, in Klockgether T (ed): Handbook of Ataxia Disorders. New York, Marcel Dekker, 2000, pp 235-256
-
(2000)
Handbook of Ataxia Disorders
, pp. 235-256
-
-
Gibberd, F.B.1
Wierzbicki, A.S.2
-
36
-
-
84984777129
-
Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene
-
Jansen GA, Ofman F, et al: Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene. Nat Genet 17:190-193, 1997
-
(1997)
Nat Genet
, vol.17
, pp. 190-193
-
-
Jansen, G.A.1
Ofman, F.2
-
37
-
-
84984767118
-
Identification of PAHX, a Refsum disease gene
-
Mihalik SJ, Morrell JC, et al: Identification of PAHX, a Refsum disease gene. Nat Genet 17:185-189, 1997
-
(1997)
Nat Genet
, vol.17
, pp. 185-189
-
-
Mihalik, S.J.1
Morrell, J.C.2
-
38
-
-
0037318856
-
Identification of PEX7 as the second gene involved in Refsum disease
-
van den Brink DM, Brites P, et al: Identification of PEX7 as the second gene involved in Refsum disease. Am J Hum Genet 72:471-477, 2003
-
(2003)
Am J Hum Genet
, vol.72
, pp. 471-477
-
-
Van Den Brink, D.M.1
Brites, P.2
-
39
-
-
0011794514
-
A new syndrome of ophthalmoplegia hypoacusis, ataxia, hypotonia and athetosis (OHAHA)
-
Kallio AK, Jauhiainen T: A new syndrome of ophthalmoplegia hypoacusis, ataxia, hypotonia and athetosis (OHAHA). Adv Audiol 3:84-90, 1985
-
(1985)
Adv Audiol
, vol.3
, pp. 84-90
-
-
Kallio, A.K.1
Jauhiainen, T.2
-
40
-
-
0028089305
-
Infantile onset spinocerebellar ataxia with sensory neuropathy: A new inherited disease
-
Koskinen T, Santavuori P, et al: Infantile onset spinocerebellar ataxia with sensory neuropathy: A new inherited disease. J Neurol Sci 121:50-56, 1994
-
(1994)
J Neurol Sci
, vol.121
, pp. 50-56
-
-
Koskinen, T.1
Santavuori, P.2
-
41
-
-
0032569825
-
Infantile onset spinocerebellar ataxia with sensory neuropathy (IOSCA): Neuropathological features
-
Lonnqvist T, Paetau A, et al: Infantile onset spinocerebellar ataxia with sensory neuropathy (IOSCA): Neuropathological features. J Neurol Sci 161:57-65, 1998
-
(1998)
J Neurol Sci
, vol.161
, pp. 57-65
-
-
Lonnqvist, T.1
Paetau, A.2
-
42
-
-
0242488660
-
Infantile-onset spinocerebellar ataxia
-
Klockgether T (ed). New York, Marcel Dekker
-
Lonnqvist T, Paetau A, et al: Infantile-onset spinocerebellar ataxia, in Klockgether T (ed): Handbook of Ataxia Disorders. New York, Marcel Dekker, 2000, pp 293-309
-
(2000)
Handbook of Ataxia Disorders
, pp. 293-309
-
-
Lonnqvist, T.1
Paetau, A.2
-
43
-
-
0028949919
-
Random search for shared chromosomal regions in four affected individuals: The assignment of a new hereditary ataxia locus
-
Nikali K, Suomalainen A, et al: Random search for shared chromosomal regions in four affected individuals: The assignment of a new hereditary ataxia locus. Am J Hum Genet 56:1088-1095, 1995
-
(1995)
Am J Hum Genet
, vol.56
, pp. 1088-1095
-
-
Nikali, K.1
Suomalainen, A.2
-
44
-
-
0031568287
-
Toward cloning of a novel ataxia gene: Refined assignment and physical map of the IOSCA locus (SCA8) on 10q24
-
Nikali K, Isosomppi J, et al: Toward cloning of a novel ataxia gene: Refined assignment and physical map of the IOSCA locus (SCA8) on 10q24. Genomics 39:185-191, 1997
-
(1997)
Genomics
, vol.39
, pp. 185-191
-
-
Nikali, K.1
Isosomppi, J.2
-
45
-
-
0016159686
-
Optic and cochleovestibular degenerations in the hereditary ataxias. I. Clinicopathological and genetic aspects
-
van Bogaert L, Martin L: Optic and cochleovestibular degenerations in the hereditary ataxias. I. Clinicopathological and genetic aspects. Brain 97:15-40, 1974
-
(1974)
Brain
, vol.97
, pp. 15-40
-
-
Van Bogaert, L.1
Martin, L.2
-
46
-
-
0034513418
-
Homozygosity mapping of spinocerebellar ataxia with cerebellar atrophy and peripheral neuropathy to 9q33-34, and with hearing impairment and optic atrophy to 6p21-23
-
Bomont P, Watanabe M, et al: Homozygosity mapping of spinocerebellar ataxia with cerebellar atrophy and peripheral neuropathy to 9q33-34, and with hearing impairment and optic atrophy to 6p21-23. Eur J Hum Genet 8:986-990, 2000
-
(2000)
Eur J Hum Genet
, vol.8
, pp. 986-990
-
-
Bomont, P.1
Watanabe, M.2
-
47
-
-
0000210516
-
Congenital ocular motor apraxia and cerebellar degeneration: Report of two cases
-
Inoue N, Izumi K, et al: Congenital ocular motor apraxia and cerebellar degeneration: Report of two cases. Rinsho Shinkeigaku 11:855-861, 1971
-
(1971)
Rinsho Shinkeigaku
, vol.11
, pp. 855-861
-
-
Inoue, N.1
Izumi, K.2
-
48
-
-
0027716370
-
Abetalipoproteinemia is caused by defects of the gene encoding the 97 kDa subunit of a microsomal triglyceride transfer protein
-
Shoulders CC, Brett DJ, et al: Abetalipoproteinemia is caused by defects of the gene encoding the 97 kDa subunit of a microsomal triglyceride transfer protein. Hum Mol Genet 2:2109-2116, 1993
-
(1993)
Hum Mol Genet
, vol.2
, pp. 2109-2116
-
-
Shoulders, C.C.1
Brett, D.J.2
-
49
-
-
0023684502
-
Ataxia-ocular motor apraxia: A syndrome mimicking ataxia-telangiectasia
-
Aicardi J, Barbosa C, et al: Ataxia-ocular motor apraxia: A syndrome mimicking ataxia-telangiectasia. Ann Neurol 24:497-502, 1988
-
(1988)
Ann Neurol
, vol.24
, pp. 497-502
-
-
Aicardi, J.1
Barbosa, C.2
-
50
-
-
0035109757
-
Recessive ataxia with ocular apraxia: Review of 22 Portuguese patients
-
Barbot C, Coutinho P, et al: Recessive ataxia with ocular apraxia: Review of 22 Portuguese patients. Arch Neurol 58:201-205, 2001
-
(2001)
Arch Neurol
, vol.58
, pp. 201-205
-
-
Barbot, C.1
Coutinho, P.2
-
51
-
-
0035125621
-
Homozygosity mapping of Portuguese and Japanese forms of ataxia-oculomotor apraxia to 9p13, and evidence for genetic heterogeneity
-
Moreira MC, Barbot C, et al: Homozygosity mapping of Portuguese and Japanese forms of ataxia-oculomotor apraxia to 9p13, and evidence for genetic heterogeneity. Am J Hum Genet 68:501-508, 2001
-
(2001)
Am J Hum Genet
, vol.68
, pp. 501-508
-
-
Moreira, M.C.1
Barbot, C.2
-
52
-
-
0026980496
-
A hereditary ataxia associated with hypoalbuminemia and hyperlipidemia. A variant form of Friedreich's disease or a new clinical entity?
-
Uekawa K, Yuasa T, et al: A hereditary ataxia associated with hypoalbuminemia and hyperlipidemia. A variant form of Friedreich's disease or a new clinical entity? Rinsho Shinkeigaku 32:1067-1074, 1992
-
(1992)
Rinsho Shinkeigaku
, vol.32
, pp. 1067-1074
-
-
Uekawa, K.1
Yuasa, T.2
-
53
-
-
18044403702
-
Mapping of the second Friedreich's ataxia (FRDA2) locus to chromosome 9p23-p11: Evidence for further locus heterogeneity
-
Christodoulou K, Deymeer F, et al: Mapping of the second Friedreich's ataxia (FRDA2) locus to chromosome 9p23-p11: Evidence for further locus heterogeneity. Neurogenetics 3:127-132, 2001
-
(2001)
Neurogenetics
, vol.3
, pp. 127-132
-
-
Christodoulou, K.1
Deymeer, F.2
-
54
-
-
0034790947
-
Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene
-
Date H, Onodera O, et al: Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene. Nat Genet 29:184-188, 2001
-
(2001)
Nat Genet
, vol.29
, pp. 184-188
-
-
Date, H.1
Onodera, O.2
-
55
-
-
0034785531
-
The gene mutated in ataxia-ocular apraxia I encodes the new HIT/ Zn-finger protein aprataxin
-
Moreira MC, Barbot C, et al: The gene mutated in ataxia-ocular apraxia I encodes the new HIT/Zn-finger protein aprataxin. Nat Genet 29:189-193, 2001
-
(2001)
Nat Genet
, vol.29
, pp. 189-193
-
-
Moreira, M.C.1
Barbot, C.2
-
56
-
-
0037428228
-
DNA single-strand break repair and spinocerebellar ataxia
-
Caldecott KW: DNA single-strand break repair and spinocerebellar ataxia. Cell 112:7-10, 2003
-
(2003)
Cell
, vol.112
, pp. 7-10
-
-
Caldecott, K.W.1
-
57
-
-
0037432279
-
Phenotypic variability of aprataxin gene mutations
-
Tranchant C, Fleury M, et al: Phenotypic variability of aprataxin gene mutations. Neurology 60:868-870, 2003
-
(2003)
Neurology
, vol.60
, pp. 868-870
-
-
Tranchant, C.1
Fleury, M.2
-
58
-
-
18644386254
-
Mutation of TDPI, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy
-
Takashima HC, Boerkoel F, et al: Mutation of TDPI, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy Nat Genet 32:267-272, 2002
-
(2002)
Nat Genet
, vol.32
, pp. 267-272
-
-
Takashima, H.C.1
Boerkoel, F.2
-
59
-
-
15144353774
-
Familial spinocerebellar ataxia with cerebellar atrophy, peripheral neuropathy, and elevated level of serum creatine kinase, gamma-globulin, and alpha-fetoprotein
-
Watanabe M, Sugai Y, et al: Familial spinocerebellar ataxia with cerebellar atrophy, peripheral neuropathy, and elevated level of serum creatine kinase, gamma-globulin, and alpha-fetoprotein. Ann Neurol 44:265-269, 1998
-
(1998)
Ann Neurol
, vol.44
, pp. 265-269
-
-
Watanabe, M.1
Sugai, Y.2
-
60
-
-
0033754489
-
Autosomal recessive cerebellar ataxia with oculomotor apraxia (ataxia-telangiectasia-like syndrome) is linked to chromosome 9q34
-
Nemeth AH, Bochukova E, et al: Autosomal recessive cerebellar ataxia with oculomotor apraxia (ataxia-telangiectasia-like syndrome) is linked to chromosome 9q34. Am J Hum Genet 67:1320-1326, 2000
-
(2000)
Am J Hum Genet
, vol.67
, pp. 1320-1326
-
-
Nemeth, A.H.1
Bochukova, E.2
-
61
-
-
0028577584
-
A haplotype common to intermediate radiosensitivity variants of ataxia-telangiectasia in the UK
-
Taylor AM, McConville CM, et al: A haplotype common to intermediate radiosensitivity variants of ataxia-telangiectasia in the UK. Int J Radiat Biol 66(Suppl 6):S35-S41, 1994
-
(1994)
Int J Radiat Biol
, vol.66
, Issue.SUPPL. 6
-
-
Taylor, A.M.1
McConville, C.M.2
-
62
-
-
0030051855
-
Leukemia and lymphoma in ataxia telangiectasia
-
Taylor AM, Metcalfe JA, et al: Leukemia and lymphoma in ataxia telangiectasia. Blood 87:423-438, 1996
-
(1996)
Blood
, vol.87
, pp. 423-438
-
-
Taylor, A.M.1
Metcalfe, J.A.2
-
63
-
-
0017875301
-
Autosomal recessive spastic ataxia of Charlevoix-Saguenay
-
Bouchard JP. Barbeau A, et al: Autosomal recessive spastic ataxia of Charlevoix-Saguenay. Can J Neurol Sci 5:61-69, 1978
-
(1978)
Can J Neurol Sci
, vol.5
, pp. 61-69
-
-
Bouchard, J.P.1
Barbeau, A.2
-
64
-
-
0032190911
-
Autosomal recessive spastic ataxia of Charlevoix-Saguenay
-
Bouchard JP, Richter A, et al: Autosomal recessive spastic ataxia of Charlevoix-Saguenay. Neuromuscul Disord 8:474-479, 1998
-
(1998)
Neuromuscul Disord
, vol.8
, pp. 474-479
-
-
Bouchard, J.P.1
Richter, A.2
-
65
-
-
0034636165
-
Linkage to chromosome 13q11-12 of an autosomal recessive cerebellar ataxia in a Tunisian family
-
Mrissa N, Belal S, et al: Linkage to chromosome 13q11-12 of an autosomal recessive cerebellar ataxia in a Tunisian family. Neurology 54:1408-1414, 2000
-
(2000)
Neurology
, vol.54
, pp. 1408-1414
-
-
Mrissa, N.1
Belal, S.2
-
66
-
-
0018776321
-
Electroencephalographic findings in Friedreich's ataxia and autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)
-
Bouchard RW, Bouchard JP, et al: Electroencephalographic findings in Friedreich's ataxia and autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). Can J Neurol Sci 6:191-194, 1979
-
(1979)
Can J Neurol Sci
, vol.6
, pp. 191-194
-
-
Bouchard, R.W.1
Bouchard, J.P.2
-
67
-
-
0018751255
-
The neuropathy of Charlevoix-Saguenay ataxia: An electrophysiological and pathological study
-
Peyronnard JM, Charron L, et al: The neuropathy of Charlevoix-Saguenay ataxia: An electrophysiological and pathological study. Can J Neurol Sci 6:199-203, 1979
-
(1979)
Can J Neurol Sci
, vol.6
, pp. 199-203
-
-
Peyronnard, J.M.1
Charron, L.2
-
68
-
-
0033361944
-
Location score and haplotype analyses of the locus for autosomal recessive spastic ataxia of Charlevoix-Saguenay, in chromosome region 13q11
-
Richter A, Rioux JD, et al: Location score and haplotype analyses of the locus for autosomal recessive spastic ataxia of Charlevoix-Saguenay, in chromosome region 13q11. Am J Hum Genet 64:768-775, 1999
-
(1999)
Am J Hum Genet
, vol.64
, pp. 768-775
-
-
Richter, A.1
Rioux, J.D.2
-
69
-
-
0343384355
-
ARSACS, a spastic ataxia common in northeastern Quebec, is caused by mutations in a new gene encoding an 11.5-kb ORF
-
Engert JC, Berube P, et al: ARSACS, a spastic ataxia common in northeastern Quebec, is caused by mutations in a new gene encoding an 11.5-kb ORF. Nat Genet 24:120-125, 2000
-
(2000)
Nat Genet
, vol.24
, pp. 120-125
-
-
Engert, J.C.1
Berube, P.2
-
70
-
-
0034880657
-
Autosomal recessive spastic ataxia of Charlevoix-Saguenay in two unrelated Turkish families
-
Gucuyener K, Ozgul K, et al: Autosomal recessive spastic ataxia of Charlevoix-Saguenay in two unrelated Turkish families. Neuropediatrics 32:142-146, 2001
-
(2001)
Neuropediatrics
, vol.32
, pp. 142-146
-
-
Gucuyener, K.1
Ozgul, K.2
-
71
-
-
0038037554
-
Phenotypic features and genetic findings in sacsin related autosomal recessive ataxia in Tunisia
-
El Euch-Fayache G, Lalani I, et al: Phenotypic features and genetic findings in sacsin related autosomal recessive ataxia in Tunisia. Arch Neurol 60:982-988, 2003
-
(2003)
Arch Neurol
, vol.60
, pp. 982-988
-
-
El Euch-Fayache, G.1
Lalani, I.2
-
72
-
-
77957188127
-
A form of familial degeneration of the cerebellum
-
Holmes G: A form of familial degeneration of the cerebellum. Brain 30:466-489, 1907
-
(1907)
Brain
, vol.30
, pp. 466-489
-
-
Holmes, G.1
-
73
-
-
0016698740
-
Autosomal recessive syndrome of cerebellar ataxia and hypogonadotropic hypogonadism
-
Neuhauser G, Opitz JM: Autosomal recessive syndrome of cerebellar ataxia and hypogonadotropic hypogonadism. Clin Genet 7:426-434, 1975
-
(1975)
Clin Genet
, vol.7
, pp. 426-434
-
-
Neuhauser, G.1
Opitz, J.M.2
-
74
-
-
0019984512
-
Familial cerebellar ataxia and hypogonadotropic hypogonadism: Evidence for hypothalamic LHRH deficiency
-
Berciano J, Amado JA, et al: Familial cerebellar ataxia and hypogonadotropic hypogonadism: Evidence for hypothalamic LHRH deficiency. J Neurol Neurosurg Psychiatry 45:747-751, 1982
-
(1982)
J Neurol Neurosurg Psychiatry
, vol.45
, pp. 747-751
-
-
Berciano, J.1
Amado, J.A.2
-
75
-
-
0024450686
-
Spinocerebellar ataxia, hypogonadotropic hypogonadism, and choroidal dystrophy (Boucher-Neuhauser syndrome)
-
Limber ER, Bresnick GH, et al: Spinocerebellar ataxia, hypogonadotropic hypogonadism, and choroidal dystrophy (Boucher-Neuhauser syndrome). Am J Med Genet 33:409-414, 1989
-
(1989)
Am J Med Genet
, vol.33
, pp. 409-414
-
-
Limber, E.R.1
Bresnick, G.H.2
-
76
-
-
0030931365
-
Two sibs with chorioretinal dystrophy, hypogonadotrophic hypogonadism, and cerebellar ataxia: Boucher-Neuhauser syndrome
-
Rump R, Hamel BC, et al: Two sibs with chorioretinal dystrophy, hypogonadotrophic hypogonadism, and cerebellar ataxia: Boucher-Neuhauser syndrome. J Med Genet 34:767-771, 1997
-
(1997)
J Med Genet
, vol.34
, pp. 767-771
-
-
Rump, R.1
Hamel, B.C.2
-
77
-
-
0033544724
-
The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder
-
Stewart GS, Maser RS, et al: The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder. Cell 99:577-587, 1999
-
(1999)
Cell
, vol.99
, pp. 577-587
-
-
Stewart, G.S.1
Maser, R.S.2
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