-
1
-
-
0020641096
-
Classification of the hereditary ataxias and paraplegias
-
Harding A. Classification of the hereditary ataxias and paraplegias. Lancet 1 (1983) 1151-1155
-
(1983)
Lancet
, vol.1
, pp. 1151-1155
-
-
Harding, A.1
-
2
-
-
4544244896
-
Symptomatic and disease-modifying therapy for the progressive ataxias
-
Perlman S. Symptomatic and disease-modifying therapy for the progressive ataxias. Neurologist 10 (2004) 275-289
-
(2004)
Neurologist
, vol.10
, pp. 275-289
-
-
Perlman, S.1
-
3
-
-
11144356369
-
Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis
-
Schols L., Bauer P., Schmidt T., Schulte T., and Riess O. Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis. Lancet Neurol 3 (2004) 291-304
-
(2004)
Lancet Neurol
, vol.3
, pp. 291-304
-
-
Schols, L.1
Bauer, P.2
Schmidt, T.3
Schulte, T.4
Riess, O.5
-
4
-
-
0035178023
-
The complex clinical and genetic classification of inherited ataxias-II: autosomal recessive ataxias
-
Di Donato S., Gellera C., and Mariotti C. The complex clinical and genetic classification of inherited ataxias-II: autosomal recessive ataxias. Neurol Sci 22 (2001) 219-228
-
(2001)
Neurol Sci
, vol.22
, pp. 219-228
-
-
Di Donato, S.1
Gellera, C.2
Mariotti, C.3
-
6
-
-
0019521898
-
Early onset cerebellar ataxia with retained tendon reflexes: a clinical and genetic study of a disorder distinct from Friedreich's ataxia
-
Harding A. Early onset cerebellar ataxia with retained tendon reflexes: a clinical and genetic study of a disorder distinct from Friedreich's ataxia. J Neurol Neurosurg Psychiatry 44 (1981) 503-508
-
(1981)
J Neurol Neurosurg Psychiatry
, vol.44
, pp. 503-508
-
-
Harding, A.1
-
7
-
-
0032863136
-
Molecular pathogenesis of Friedreich ataxia
-
Pandolfo M. Molecular pathogenesis of Friedreich ataxia. Arch Neurol 56 (1999) 1201-1208
-
(1999)
Arch Neurol
, vol.56
, pp. 1201-1208
-
-
Pandolfo, M.1
-
8
-
-
0035470388
-
Molecular basis of Friedreich ataxia
-
Pandolfo M. Molecular basis of Friedreich ataxia. Mov Disord 16 (2001) 815-821
-
(2001)
Mov Disord
, vol.16
, pp. 815-821
-
-
Pandolfo, M.1
-
9
-
-
0030739437
-
Evolution of the Friedreich's ataxia trinucleotide repeat expansion: Founder effect and premutations
-
Cossee M., Schmitt M., Campuzano V., et al. Evolution of the Friedreich's ataxia trinucleotide repeat expansion: Founder effect and premutations. Proc Natl Acad Sci USA 94 (1997) 7452-7457
-
(1997)
Proc Natl Acad Sci USA
, vol.94
, pp. 7452-7457
-
-
Cossee, M.1
Schmitt, M.2
Campuzano, V.3
-
10
-
-
1842370633
-
Friedreich's ataxia
-
Schols L., Amoiridis G., Przuntek H., Frank G., Epplen J., and Epplen C. Friedreich's ataxia. Brain 120 (1997) 2131-2140
-
(1997)
Brain
, vol.120
, pp. 2131-2140
-
-
Schols, L.1
Amoiridis, G.2
Przuntek, H.3
Frank, G.4
Epplen, J.5
Epplen, C.6
-
12
-
-
0019782799
-
Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features
-
Harding A. Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features. Brain 104 (1981) 589-620
-
(1981)
Brain
, vol.104
, pp. 589-620
-
-
Harding, A.1
-
14
-
-
1542350111
-
Friedreich ataxia-update on pathogenesis and possible therapies
-
Voncken M., Ioannou P., and Delatycki M. Friedreich ataxia-update on pathogenesis and possible therapies. Neurogenetics 5 (2004) 1-8
-
(2004)
Neurogenetics
, vol.5
, pp. 1-8
-
-
Voncken, M.1
Ioannou, P.2
Delatycki, M.3
-
15
-
-
0036098482
-
Friedreich ataxia: effects of genetic understanding on clinical evaluation and therapy
-
Lynch D., Farmer J., Balcer L., and Wilson R. Friedreich ataxia: effects of genetic understanding on clinical evaluation and therapy. Arch Neurol 59 (2002) 743-747
-
(2002)
Arch Neurol
, vol.59
, pp. 743-747
-
-
Lynch, D.1
Farmer, J.2
Balcer, L.3
Wilson, R.4
-
17
-
-
13344270899
-
Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion
-
Campuzano V., Montermini L., Molto M., Pianese L., et al. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 271 (1996) 1423-1427
-
(1996)
Science
, vol.271
, pp. 1423-1427
-
-
Campuzano, V.1
Montermini, L.2
Molto, M.3
Pianese, L.4
-
18
-
-
0031941447
-
The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure
-
Bidichandani S., Ashizawa T., and Patel P. The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure. Am J Hum Genet 62 (1998) 111-121
-
(1998)
Am J Hum Genet
, vol.62
, pp. 111-121
-
-
Bidichandani, S.1
Ashizawa, T.2
Patel, P.3
-
19
-
-
0034660695
-
The GAA*TTC triplet repeat expanded in Friedreich's ataxia impedes transcription elongation by T7 RNA polymerase in a length and supercoil dependent manner
-
Grabczyk E., and Usdin K. The GAA*TTC triplet repeat expanded in Friedreich's ataxia impedes transcription elongation by T7 RNA polymerase in a length and supercoil dependent manner. Nucleic Acids Res 28 (2000) 2815-2822
-
(2000)
Nucleic Acids Res
, vol.28
, pp. 2815-2822
-
-
Grabczyk, E.1
Usdin, K.2
-
20
-
-
0034969491
-
Friedreich ataxia: from GAA triplet-repeat expansion to frataxin deficiency
-
Patel P., and Isaya G. Friedreich ataxia: from GAA triplet-repeat expansion to frataxin deficiency. Am J Hum Genet 69 (2001) 15-24
-
(2001)
Am J Hum Genet
, vol.69
, pp. 15-24
-
-
Patel, P.1
Isaya, G.2
-
21
-
-
0033120042
-
Sticky DNA: Self-association properties of long GAA*TTC repeats in R*R*Y triplex structures from Friedreich's ataxia
-
Sakamoto N., Chastain P., Parniewski P., et al. Sticky DNA: Self-association properties of long GAA*TTC repeats in R*R*Y triplex structures from Friedreich's ataxia. Mol Cell 3 (1999) 465-475
-
(1999)
Mol Cell
, vol.3
, pp. 465-475
-
-
Sakamoto, N.1
Chastain, P.2
Parniewski, P.3
-
22
-
-
0038458435
-
GAA expansion size and age at onset of Friedreich's ataxia
-
Mateo I., Llorca J., Volpini V., Corral J., Berciano J., and Combarros O. GAA expansion size and age at onset of Friedreich's ataxia. Neurology 61 (2003) 274-275
-
(2003)
Neurology
, vol.61
, pp. 274-275
-
-
Mateo, I.1
Llorca, J.2
Volpini, V.3
Corral, J.4
Berciano, J.5
Combarros, O.6
-
23
-
-
0342700237
-
Recent advances in the molecular pathogenesis of Friedreich ataxia
-
Puccio H., and Koenig M. Recent advances in the molecular pathogenesis of Friedreich ataxia. Hum Mol Genet 9 (2000) 887-892
-
(2000)
Hum Mol Genet
, vol.9
, pp. 887-892
-
-
Puccio, H.1
Koenig, M.2
-
24
-
-
17144467700
-
Phenotypic variability in Friedreich ataxia: role of the associated GAA triplet repeat expansion
-
Montermini L., Richter A., Morgan K., et al. Phenotypic variability in Friedreich ataxia: role of the associated GAA triplet repeat expansion. Ann Neurol 41 (1997) 675-682
-
(1997)
Ann Neurol
, vol.41
, pp. 675-682
-
-
Montermini, L.1
Richter, A.2
Morgan, K.3
-
25
-
-
0035135490
-
Limited somatic mosaicism for Friedreich's ataxia GAA triplet repeat expansions identified by small pool PCR in blood leukocytes
-
Hellenbroich Y., Schwinger E., and Zuhlke C. Limited somatic mosaicism for Friedreich's ataxia GAA triplet repeat expansions identified by small pool PCR in blood leukocytes. Acta Neurol Scand 103 (2001) 188-192
-
(2001)
Acta Neurol Scand
, vol.103
, pp. 188-192
-
-
Hellenbroich, Y.1
Schwinger, E.2
Zuhlke, C.3
-
26
-
-
9844222853
-
Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes
-
Campuzano V., Montermini L., Lutz Y., et al. Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes. Hum Mol Genet 6 (1997) 1771-1780
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1771-1780
-
-
Campuzano, V.1
Montermini, L.2
Lutz, Y.3
-
27
-
-
0033957174
-
Clinical, biochemical and molecular genetic correlations in Friedreich's ataxia
-
Bradley J., Blake J., Chamberlain S., Thomas P., Cooper J., and Schapira A. Clinical, biochemical and molecular genetic correlations in Friedreich's ataxia. Hum Mol Genet 9 (2000) 275-282
-
(2000)
Hum Mol Genet
, vol.9
, pp. 275-282
-
-
Bradley, J.1
Blake, J.2
Chamberlain, S.3
Thomas, P.4
Cooper, J.5
Schapira, A.6
-
28
-
-
0036472291
-
Assembly and iron-binding properties of human frataxin, the protein deficient in Friedreich ataxia
-
Cavadini P., O'Neill H., Benada O., and Isaya G. Assembly and iron-binding properties of human frataxin, the protein deficient in Friedreich ataxia. Hum Mol Genet 11 (2002) 217-227
-
(2002)
Hum Mol Genet
, vol.11
, pp. 217-227
-
-
Cavadini, P.1
O'Neill, H.2
Benada, O.3
Isaya, G.4
-
29
-
-
0033613262
-
Deficit of in vivo mitochondrial ATP production in patients with Friedreich ataxia
-
Lodi R., Copper J., Bradley J., et al. Deficit of in vivo mitochondrial ATP production in patients with Friedreich ataxia. Proc Natl Acad Sci USA 96 (1999) 11492-11495
-
(1999)
Proc Natl Acad Sci USA
, vol.96
, pp. 11492-11495
-
-
Lodi, R.1
Copper, J.2
Bradley, J.3
-
30
-
-
0030846021
-
Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin
-
Babcock M., de Silva D., Oaks R., et al. Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin. Science 276 (1997) 1709-1712
-
(1997)
Science
, vol.276
, pp. 1709-1712
-
-
Babcock, M.1
de Silva, D.2
Oaks, R.3
-
31
-
-
31544445770
-
Mitochondrial iron detoxification is a primary function of frataxin that limits oxidative damage and preserves cell longevity
-
Gakh O., Park S., Liu G., et al. Mitochondrial iron detoxification is a primary function of frataxin that limits oxidative damage and preserves cell longevity. Hum Mol Genet 15 (2006) 467-479
-
(2006)
Hum Mol Genet
, vol.15
, pp. 467-479
-
-
Gakh, O.1
Park, S.2
Liu, G.3
-
32
-
-
0034641851
-
Human frataxin maintains mitochondrial iron homeostasis in Saccharomyces cerevisiae
-
Cavadini P., Gellera C., Patel P., and Isaya G. Human frataxin maintains mitochondrial iron homeostasis in Saccharomyces cerevisiae. Hum Mol Genet 9 (2000) 2523-2530
-
(2000)
Hum Mol Genet
, vol.9
, pp. 2523-2530
-
-
Cavadini, P.1
Gellera, C.2
Patel, P.3
Isaya, G.4
-
33
-
-
0034192352
-
Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation
-
Cossee M., Puccio H., Gansmuller A., et al. Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation. Hum Mol Genet 9 (2000) 1219-1226
-
(2000)
Hum Mol Genet
, vol.9
, pp. 1219-1226
-
-
Cossee, M.1
Puccio, H.2
Gansmuller, A.3
-
34
-
-
0035491260
-
Rescue of the Friedreich's ataxia knockout mouse by human YAC transgenesis
-
Pook M., Al-Mahdawi S., Carroll C., et al. Rescue of the Friedreich's ataxia knockout mouse by human YAC transgenesis. Neurogenetics 3 (2001) 185-193
-
(2001)
Neurogenetics
, vol.3
, pp. 185-193
-
-
Pook, M.1
Al-Mahdawi, S.2
Carroll, C.3
-
35
-
-
0035138072
-
Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits
-
Puccio H., Simon D., Cossee M., et al. Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits. Nat Genet 27 (2001) 181-186
-
(2001)
Nat Genet
, vol.27
, pp. 181-186
-
-
Puccio, H.1
Simon, D.2
Cossee, M.3
-
36
-
-
12244303650
-
Frataxin and frataxin deficiency in Friedreich's ataxia
-
Wilson R. Frataxin and frataxin deficiency in Friedreich's ataxia. J Neurol Sci 207 (2003) 103-105
-
(2003)
J Neurol Sci
, vol.207
, pp. 103-105
-
-
Wilson, R.1
-
37
-
-
0041510563
-
Friedreich's ataxia: treatment within reach
-
Durr A. Friedreich's ataxia: treatment within reach. Lancet Neurol 1 (2002) 370-374
-
(2002)
Lancet Neurol
, vol.1
, pp. 370-374
-
-
Durr, A.1
-
38
-
-
20144389286
-
Antioxidant treatment of patients with Friedreich ataxia
-
Hart P., Lodi R., Rajagopalan B., et al. Antioxidant treatment of patients with Friedreich ataxia. Arch Neurol 62 (2005) 621-626
-
(2005)
Arch Neurol
, vol.62
, pp. 621-626
-
-
Hart, P.1
Lodi, R.2
Rajagopalan, B.3
-
39
-
-
0038187688
-
Idebenone treatment in Friedreich's ataxia: neurological, cardiac, and biochemical monitoring
-
Buyse G., Mertens L., Di Salvo G., et al. Idebenone treatment in Friedreich's ataxia: neurological, cardiac, and biochemical monitoring. Neurology 60 (2003) 1679-1681
-
(2003)
Neurology
, vol.60
, pp. 1679-1681
-
-
Buyse, G.1
Mertens, L.2
Di Salvo, G.3
-
40
-
-
0036221156
-
Idebenone and reduced cardiac hypertrophy in Friedreich's ataxia
-
Hausse A., Aggoun Y., Bonnet D., et al. Idebenone and reduced cardiac hypertrophy in Friedreich's ataxia. Heart 87 (2002) 346-349
-
(2002)
Heart
, vol.87
, pp. 346-349
-
-
Hausse, A.1
Aggoun, Y.2
Bonnet, D.3
-
41
-
-
0037849955
-
Idebenone treatment in Friedreich patients: one-year-long randomized placebo-controlled trial
-
Mariotti C., Solari A., Torta D., Marano L., Fiorentini C., and Di Donato S. Idebenone treatment in Friedreich patients: one-year-long randomized placebo-controlled trial. Neurology 60 (2003) 1676-1679
-
(2003)
Neurology
, vol.60
, pp. 1676-1679
-
-
Mariotti, C.1
Solari, A.2
Torta, D.3
Marano, L.4
Fiorentini, C.5
Di Donato, S.6
-
42
-
-
0033533071
-
Effect of idebenone on cardiomyopathy in Friedreich's ataxia: a preliminary study
-
Rustin P., von Kleist-Retzow J., Chantrel-Groussard K., Sidi D., Munnich A., and Rotig A. Effect of idebenone on cardiomyopathy in Friedreich's ataxia: a preliminary study. Lancet 354 (1999) 477-479
-
(1999)
Lancet
, vol.354
, pp. 477-479
-
-
Rustin, P.1
von Kleist-Retzow, J.2
Chantrel-Groussard, K.3
Sidi, D.4
Munnich, A.5
Rotig, A.6
-
43
-
-
2542556601
-
Idebenone delays the onset of cardiac functional alteration without correction of Fe-S enzymes deficit in a mouse model for Friedreich ataxia
-
Seznec H., Simon D., Monassier L., et al. Idebenone delays the onset of cardiac functional alteration without correction of Fe-S enzymes deficit in a mouse model for Friedreich ataxia. Hum Mol Genet 13 (2004) 1017-1024
-
(2004)
Hum Mol Genet
, vol.13
, pp. 1017-1024
-
-
Seznec, H.1
Simon, D.2
Monassier, L.3
-
44
-
-
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., Meggouh F., 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 (2002) 25-29
-
(2002)
J Neurol Sci
, vol.198
, pp. 25-29
-
-
Benomar, A.1
Yahyaoui, M.2
Meggouh, F.3
-
45
-
-
0031889483
-
Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families
-
Cavalier L., Ouahchi K., Katden H., 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 (1998) 301-310
-
(1998)
Am J Hum Genet
, vol.62
, pp. 301-310
-
-
Cavalier, L.1
Ouahchi, K.2
Katden, H.3
-
46
-
-
18844445901
-
Vitamin E deficiency ataxia with (744 del A) mutation on α-TTP gene: genetic and clinical peculiarities in Moroccan patients
-
Marzouki N., Benomar A., Yahyaoui M., et al. Vitamin E deficiency ataxia with (744 del A) mutation on α-TTP gene: genetic and clinical peculiarities in Moroccan patients. Eur J Med Genet 48 (2005) 21-28
-
(2005)
Eur J Med Genet
, vol.48
, pp. 21-28
-
-
Marzouki, N.1
Benomar, A.2
Yahyaoui, M.3
-
47
-
-
0027514838
-
Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping
-
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 5 (1996) 195-200
-
(1996)
Nat Genet
, vol.5
, pp. 195-200
-
-
Ben Hamida, C.1
Doerflinger, N.2
Belal, S.3
-
48
-
-
0028876572
-
Ataxia with isolated vitamin E deficiency is caused by mutations in the α-tocopherol transfer protein
-
Ouahchi K., Arita M., Kayden H., et al. Ataxia with isolated vitamin E deficiency is caused by mutations in the α-tocopherol transfer protein. Nat Genet 9 (1995) 141-145
-
(1995)
Nat Genet
, vol.9
, pp. 141-145
-
-
Ouahchi, K.1
Arita, M.2
Kayden, H.3
-
49
-
-
0033586250
-
Localization of α-tocopherol transfer protein in the brains of patients with ataxia with vitamin E deficiency and other oxidative stress related neurodegenerative disorders
-
Copp R., Wisniewski T., Hentati F., Larnaout A., Ben Hamida M., and Kayden H. Localization of α-tocopherol transfer protein in the brains of patients with ataxia with vitamin E deficiency and other oxidative stress related neurodegenerative disorders. Brain Res 822 (1999) 80-87
-
(1999)
Brain Res
, vol.822
, pp. 80-87
-
-
Copp, R.1
Wisniewski, T.2
Hentati, F.3
Larnaout, A.4
Ben Hamida, M.5
Kayden, H.6
-
50
-
-
0035726073
-
Effect of vitamin E supplementation in patients with ataxia with vitamin E deficiency
-
Gabsi S., Gouider-Khouja N., Belal S., et al. Effect of vitamin E supplementation in patients with ataxia with vitamin E deficiency. Eur J Neurol 8 (2001) 477-481
-
(2001)
Eur J Neurol
, vol.8
, pp. 477-481
-
-
Gabsi, S.1
Gouider-Khouja, N.2
Belal, S.3
-
51
-
-
0035910076
-
Delayed-onset ataxia in mice lacking alpha-tocopherol transfer protein: model for neuronal degeneration caused by chronic oxidative stress
-
Yokota T., Igarashi K., Uchihara T., et al. Delayed-onset ataxia in mice lacking alpha-tocopherol transfer protein: model for neuronal degeneration caused by chronic oxidative stress. Proc Natl Acad Sci USA 98 (2001) 15185-15190
-
(2001)
Proc Natl Acad Sci USA
, vol.98
, pp. 15185-15190
-
-
Yokota, T.1
Igarashi, K.2
Uchihara, T.3
-
52
-
-
0028834528
-
Mutations of the microsomal triglyceride-transfer-protein in abetalipoproteinemia
-
Narcisi T., Shoulders C., Chester S., et al. Mutations of the microsomal triglyceride-transfer-protein in abetalipoproteinemia. Am J Hum Genet 57 (1995) 1298-1310
-
(1995)
Am J Hum Genet
, vol.57
, pp. 1298-1310
-
-
Narcisi, T.1
Shoulders, C.2
Chester, S.3
-
53
-
-
0034145322
-
Microsomal triglyceride transfer protein (MTP) gene mutations in canadian subjects with abetalipoproteinemia
-
Wang J., and Hegele R. Microsomal triglyceride transfer protein (MTP) gene mutations in canadian subjects with abetalipoproteinemia. Hum Mutat 15 (2000) 294-295
-
(2000)
Hum Mutat
, vol.15
, pp. 294-295
-
-
Wang, J.1
Hegele, R.2
-
55
-
-
0033525712
-
Liver-specific inactivation of the abetalipoproteinemia gene completely abrogates very low density lipoprotein/low density lipoprotein production in a viable conditional knockout mouse
-
Chang B., Liao W., Li L., Nakamuta M., Mack D., and Chan L. Liver-specific inactivation of the abetalipoproteinemia gene completely abrogates very low density lipoprotein/low density lipoprotein production in a viable conditional knockout mouse. J Biol Chem 274 (1999) 6051-6055
-
(1999)
J Biol Chem
, vol.274
, pp. 6051-6055
-
-
Chang, B.1
Liao, W.2
Li, L.3
Nakamuta, M.4
Mack, D.5
Chan, L.6
-
56
-
-
1542724509
-
Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7)
-
Jansen G., Waterham H., and Wanders R. Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7). Hum Mutat 23 (2004) 209-218
-
(2004)
Hum Mutat
, vol.23
, pp. 209-218
-
-
Jansen, G.1
Waterham, H.2
Wanders, R.3
-
58
-
-
0033385080
-
Phytanic acid storage disease (Refsum's disease): clinical characteristics, pathophysiology and the role of therapeutic apheresis in its management
-
Weinstein R. Phytanic acid storage disease (Refsum's disease): clinical characteristics, pathophysiology and the role of therapeutic apheresis in its management. J Clin Apher 14 (1999) 181-184
-
(1999)
J Clin Apher
, vol.14
, pp. 181-184
-
-
Weinstein, R.1
-
59
-
-
0037318856
-
Identification of PEX7 as the second gene involved in Refsum disease
-
van den Brink D., Brites P., Haasjes J., et al. Identification of PEX7 as the second gene involved in Refsum disease. Am J Hum Genet 72 (2003) 471-477
-
(2003)
Am J Hum Genet
, vol.72
, pp. 471-477
-
-
van den Brink, D.1
Brites, P.2
Haasjes, J.3
-
60
-
-
0035782974
-
Pathogenesis of primary defects in mitochondrial ATP synthesis
-
Schon E., Santra S., Pallotti F., and Girvin M. Pathogenesis of primary defects in mitochondrial ATP synthesis. Semin Cell Dev Biol 12 (2001) 441-448
-
(2001)
Semin Cell Dev Biol
, vol.12
, pp. 441-448
-
-
Schon, E.1
Santra, S.2
Pallotti, F.3
Girvin, M.4
-
61
-
-
33646135550
-
The congenital disorders of glycoslyation: a multifaceted group of syndromes
-
Eklund E., and Freeze H. The congenital disorders of glycoslyation: a multifaceted group of syndromes. NeuroRx 3 (2006) 254-263
-
(2006)
NeuroRx
, vol.3
, pp. 254-263
-
-
Eklund, E.1
Freeze, H.2
-
62
-
-
0036415124
-
Glycosphingolipid lysosomal storage diseases: therapy and pathogenesis
-
Jeyakumar M., Butters T., Dwek R., and Platt F. Glycosphingolipid lysosomal storage diseases: therapy and pathogenesis. Neuropathol Appl Neurobio 28 (2002) 343-357
-
(2002)
Neuropathol Appl Neurobio
, vol.28
, pp. 343-357
-
-
Jeyakumar, M.1
Butters, T.2
Dwek, R.3
Platt, F.4
-
63
-
-
33746752726
-
Molecular analysis of the HEXA gene in Italian patients with infantile and late onset Tay-Sachs disease: detection of fourteen novel alleles
-
Montalvo A., Filocamo M., Vlahovicek K., et al. Molecular analysis of the HEXA gene in Italian patients with infantile and late onset Tay-Sachs disease: detection of fourteen novel alleles. Hum Mutat 26 (2005) 2-8
-
(2005)
Hum Mutat
, vol.26
, pp. 2-8
-
-
Montalvo, A.1
Filocamo, M.2
Vlahovicek, K.3
-
64
-
-
13844309674
-
Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients
-
Neudorfer O., Pastores G., Zeng B., Gianutsos J., Zarodd C., and Kolodny E. Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients. Genet Med 7 (2005) 119-123
-
(2005)
Genet Med
, vol.7
, pp. 119-123
-
-
Neudorfer, O.1
Pastores, G.2
Zeng, B.3
Gianutsos, J.4
Zarodd, C.5
Kolodny, E.6
-
65
-
-
10744226948
-
Late onset Tay-Sachs disease in mice with targeted disruption of the Hexa gene: behavioral changes and pathology of the central nervous system
-
Miklyaeva E., Dong W., Bureau A., et al. Late onset Tay-Sachs disease in mice with targeted disruption of the Hexa gene: behavioral changes and pathology of the central nervous system. Brain Res 1001 (2004) 37-50
-
(2004)
Brain Res
, vol.1001
, pp. 37-50
-
-
Miklyaeva, E.1
Dong, W.2
Bureau, A.3
-
66
-
-
0036403765
-
An inducible mouse model of late onset Tay-Sachs disease
-
Jeyakumar M., Smith D., Eliot-Smith E., et al. An inducible mouse model of late onset Tay-Sachs disease. Neurobiol Dis 10 (2002) 201-210
-
(2002)
Neurobiol Dis
, vol.10
, pp. 201-210
-
-
Jeyakumar, M.1
Smith, D.2
Eliot-Smith, E.3
-
67
-
-
0037378110
-
Central nervous system inflammation is a hallmark of pathogenesis in mouse models of GM1 and GM2 gangliosidosis
-
Jeyakumar M., Thomas R., Elliot-Smith E., et al. Central nervous system inflammation is a hallmark of pathogenesis in mouse models of GM1 and GM2 gangliosidosis. Brain 126 (2003) 974-987
-
(2003)
Brain
, vol.126
, pp. 974-987
-
-
Jeyakumar, M.1
Thomas, R.2
Elliot-Smith, E.3
-
68
-
-
33745112205
-
Substrate reduction therapy of glycosphingolipid storage disorders
-
Aerts J., Hollak C., Boot R., Groener J., and Maas M. Substrate reduction therapy of glycosphingolipid storage disorders. J Inherit Metab Dis 29 (2006) 449-456
-
(2006)
J Inherit Metab Dis
, vol.29
, pp. 449-456
-
-
Aerts, J.1
Hollak, C.2
Boot, R.3
Groener, J.4
Maas, M.5
-
69
-
-
33745925879
-
Effective gene therapy in an authentic model of Tay-Sachs-related diseases
-
Cachon-Gonzalez M., Wang S., Lynch A., Ziegler R., Cheng S., and Cox T. Effective gene therapy in an authentic model of Tay-Sachs-related diseases. Proc Natl Acad Sci USA 103 (2006) 10373-10378
-
(2006)
Proc Natl Acad Sci USA
, vol.103
, pp. 10373-10378
-
-
Cachon-Gonzalez, M.1
Wang, S.2
Lynch, A.3
Ziegler, R.4
Cheng, S.5
Cox, T.6
-
70
-
-
25144451226
-
Cerebrotendinous xanthomatosis. possible higher prevalence than previously recognized
-
Lorincz M., Rainier S., Thomas D., and Fink J. Cerebrotendinous xanthomatosis. possible higher prevalence than previously recognized. Arch Neurol 62 (2005) 1459-1463
-
(2005)
Arch Neurol
, vol.62
, pp. 1459-1463
-
-
Lorincz, M.1
Rainier, S.2
Thomas, D.3
Fink, J.4
-
71
-
-
0036216339
-
Cerebrotendinous xanthomatosis. a rare disease with diverse manifestations
-
Moghadasian M., Salen G., Frohlich J., and Scudamore C. Cerebrotendinous xanthomatosis. a rare disease with diverse manifestations. Arch Neurol 59 (2002) 527-529
-
(2002)
Arch Neurol
, vol.59
, pp. 527-529
-
-
Moghadasian, M.1
Salen, G.2
Frohlich, J.3
Scudamore, C.4
-
72
-
-
0034048587
-
Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis
-
Verrips A., Hoefsloot L., Steenbergen G., et al. Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis. Brain 123 (2000) 908-919
-
(2000)
Brain
, vol.123
, pp. 908-919
-
-
Verrips, A.1
Hoefsloot, L.2
Steenbergen, G.3
-
73
-
-
23644449234
-
Consequences of mutations in human DNA polymerase γ
-
Longley M., Graziewica M., Bienstock R., and Copeland W. Consequences of mutations in human DNA polymerase γ. Gene 354 (2005) 125-131
-
(2005)
Gene
, vol.354
, pp. 125-131
-
-
Longley, M.1
Graziewica, M.2
Bienstock, R.3
Copeland, W.4
-
74
-
-
33745713884
-
Phenotypic spectrum associated with mutations of the mitochondrial polymerase γ gene
-
Horvath R., Hudson G., Ferrari G., et al. Phenotypic spectrum associated with mutations of the mitochondrial polymerase γ gene. Brain 129 (2006) 1674-1684
-
(2006)
Brain
, vol.129
, pp. 1674-1684
-
-
Horvath, R.1
Hudson, G.2
Ferrari, G.3
-
75
-
-
20844442462
-
POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement
-
Van Goethem G., Luoma P., Rantamaki M., et al. POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement. Neurology 63 (2004) 1251-1257
-
(2004)
Neurology
, vol.63
, pp. 1251-1257
-
-
Van Goethem, G.1
Luoma, P.2
Rantamaki, M.3
-
76
-
-
0037306061
-
Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia
-
Van Goethem G., Martin J., Dermaut B., et al. Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia. Neuromuscul Disord 13 (2003) 133-142
-
(2003)
Neuromuscul Disord
, vol.13
, pp. 133-142
-
-
Van Goethem, G.1
Martin, J.2
Dermaut, B.3
-
77
-
-
16844382687
-
Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase γ mutations
-
Winterthun S., Ferrari G., He L., et al. Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase γ mutations. Neurology 64 (2005) 1204-1208
-
(2005)
Neurology
, vol.64
, pp. 1204-1208
-
-
Winterthun, S.1
Ferrari, G.2
He, L.3
-
78
-
-
0035949746
-
Adult-onset autosomal recessive ataxia with thalamic lesions in a Finnish family
-
Rantamaki M., Krahe R., Paetau A., Cormand B., Mononen I., and Udd B. Adult-onset autosomal recessive ataxia with thalamic lesions in a Finnish family. Neurology 57 (2001) 1043-1049
-
(2001)
Neurology
, vol.57
, pp. 1043-1049
-
-
Rantamaki, M.1
Krahe, R.2
Paetau, A.3
Cormand, B.4
Mononen, I.5
Udd, B.6
-
79
-
-
23944508509
-
Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin
-
Hakonen A., Heiskanen S., Juvonen V., et al. Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin. Am J Hum Genet 77 (2005) 430-441
-
(2005)
Am J Hum Genet
, vol.77
, pp. 430-441
-
-
Hakonen, A.1
Heiskanen, S.2
Juvonen, V.3
-
80
-
-
33745685519
-
The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases
-
Tzoulis C., Engelsen B., Telstad W., et al. The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases. Brain 129 (2006) 1685-1692
-
(2006)
Brain
, vol.129
, pp. 1685-1692
-
-
Tzoulis, C.1
Engelsen, B.2
Telstad, W.3
-
81
-
-
18644386254
-
Mutation of TDP1, encoding a topoisomerase I-dependant DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy
-
Takashima H., Boerkoel C., John J., et al. Mutation of TDP1, encoding a topoisomerase I-dependant DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy. Nat Genet 32 (2002) 267-272
-
(2002)
Nat Genet
, vol.32
, pp. 267-272
-
-
Takashima, H.1
Boerkoel, C.2
John, J.3
-
82
-
-
14544268980
-
Defective DNA single-strand break repair in spinocerebellar ataxia with axonal neuropathy-1
-
El-Khamisy S., Saifi G., Weinfeld M., et al. Defective DNA single-strand break repair in spinocerebellar ataxia with axonal neuropathy-1. Nature 434 (2005) 108-113
-
(2005)
Nature
, vol.434
, pp. 108-113
-
-
El-Khamisy, S.1
Saifi, G.2
Weinfeld, M.3
-
83
-
-
33749616036
-
TDP1-dependant DNA single-strand break repair and neurodegeneration
-
El-Khamisy S., and Caldecott K. TDP1-dependant DNA single-strand break repair and neurodegeneration. Mutagenesis 21 (2006) 219-224
-
(2006)
Mutagenesis
, vol.21
, pp. 219-224
-
-
El-Khamisy, S.1
Caldecott, K.2
-
84
-
-
0025184625
-
Clinical and genetic heterogeneity in early onset cerebellar ataxia with retained tendon reflexes
-
Filla A., De Michele G., Cavalcanti F., et al. Clinical and genetic heterogeneity in early onset cerebellar ataxia with retained tendon reflexes. J Neurol Neurosurg Psychiatry 53 (1990) 667-670
-
(1990)
J Neurol Neurosurg Psychiatry
, vol.53
, pp. 667-670
-
-
Filla, A.1
De Michele, G.2
Cavalcanti, F.3
-
85
-
-
23844433614
-
Molecular basis of ataxia telangiectasia and related diseases
-
Ball L., and Xiao W. Molecular basis of ataxia telangiectasia and related diseases. Acta Pharmacologica Sinica 26 (2005) 897-907
-
(2005)
Acta Pharmacologica Sinica
, vol.26
, pp. 897-907
-
-
Ball, L.1
Xiao, W.2
-
86
-
-
26244435498
-
Molecular pathology of ataxia telangiectasia
-
Taylor A., and Byrd P. Molecular pathology of ataxia telangiectasia. J Clin Pathol 58 (2005) 1009-1015
-
(2005)
J Clin Pathol
, vol.58
, pp. 1009-1015
-
-
Taylor, A.1
Byrd, P.2
-
87
-
-
4444339751
-
ATM and ataxia telangiectasia
-
McKinnon P. ATM and ataxia telangiectasia. EMBO Rep 5 (2004) 772-776
-
(2004)
EMBO Rep
, vol.5
, pp. 772-776
-
-
McKinnon, P.1
-
88
-
-
3242876404
-
Ataxia-telangiectasia, an evolving phenotype
-
Chun H., and Gatti R. Ataxia-telangiectasia, an evolving phenotype. DNA Repair (Amst) 3 (2004) 1187-1196
-
(2004)
DNA Repair (Amst)
, vol.3
, pp. 1187-1196
-
-
Chun, H.1
Gatti, R.2
-
89
-
-
0029057336
-
A single ataxia telangiectasia gene with a product similar to PI-3 kinase
-
Savitsky K., Bar-Shira A., Gilad S., et al. A single ataxia telangiectasia gene with a product similar to PI-3 kinase. Science 268 (1995) 1749-1753
-
(1995)
Science
, vol.268
, pp. 1749-1753
-
-
Savitsky, K.1
Bar-Shira, A.2
Gilad, S.3
-
90
-
-
33745823159
-
The ATM-mediated DNA-damage response: taking shape
-
Shiloh Y. The ATM-mediated DNA-damage response: taking shape. Trends Biochem Sci 31 (2006) 402-410
-
(2006)
Trends Biochem Sci
, vol.31
, pp. 402-410
-
-
Shiloh, Y.1
-
91
-
-
33646858848
-
Dual role of Nbs1 in the ataxia telangiectasia mutated-dependent DNA damage response
-
Lee J., and Lim D. Dual role of Nbs1 in the ataxia telangiectasia mutated-dependent DNA damage response. FEBS J 273 (2006) 1630-1636
-
(2006)
FEBS J
, vol.273
, pp. 1630-1636
-
-
Lee, J.1
Lim, D.2
-
92
-
-
3242889151
-
Ataxia-telangiectasia-like disorder (ATLD) - its clinical presentation and molecular basis
-
Taylor A., Groom A., and Byrd P. Ataxia-telangiectasia-like disorder (ATLD) - its clinical presentation and molecular basis. DNA Repair (Amst) 3 (2004) 1219-1225
-
(2004)
DNA Repair (Amst)
, vol.3
, pp. 1219-1225
-
-
Taylor, A.1
Groom, A.2
Byrd, P.3
-
93
-
-
18844394291
-
An essential function for NBS1 in the prevention of ataxia and cerebellar defects
-
Frappart P., Tong W., Demuth I., et al. An essential function for NBS1 in the prevention of ataxia and cerebellar defects. Nat Med 11 (2005) 484-490
-
(2005)
Nat Med
, vol.11
, pp. 484-490
-
-
Frappart, P.1
Tong, W.2
Demuth, I.3
-
94
-
-
15844426692
-
Atm-deficient mice: a paradigm of ataxia telangiectasia
-
Barlow C., Hirotsune S., Paylor R., et al. Atm-deficient mice: a paradigm of ataxia telangiectasia. Cell 86 (1996) 159-171
-
(1996)
Cell
, vol.86
, pp. 159-171
-
-
Barlow, C.1
Hirotsune, S.2
Paylor, R.3
-
95
-
-
0029844048
-
Targeted disruption of ATM leads to growth retardation, chromosomal fragmentation during meiosis, immune defects, and thymic lymphoma
-
Xu Y., Ashley T., Brainerd E., Bronson R., Meyn M., and Baltimore D. Targeted disruption of ATM leads to growth retardation, chromosomal fragmentation during meiosis, immune defects, and thymic lymphoma. Genes Dev 10 (1996) 2411-2422
-
(1996)
Genes Dev
, vol.10
, pp. 2411-2422
-
-
Xu, Y.1
Ashley, T.2
Brainerd, E.3
Bronson, R.4
Meyn, M.5
Baltimore, D.6
-
96
-
-
0034785531
-
The gene mutated in ataxia-ocular apraxia 1 encodes the HIT/Zn-finger protein aprataxin
-
Moreira M., Barbot C., Tachi N., et al. The gene mutated in ataxia-ocular apraxia 1 encodes the HIT/Zn-finger protein aprataxin. Nat Genet 29 (2001) 189-193
-
(2001)
Nat Genet
, vol.29
, pp. 189-193
-
-
Moreira, M.1
Barbot, C.2
Tachi, N.3
-
97
-
-
0034790947
-
Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene
-
Date H., Onodera O., Tanaka H., et al. Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene. Nat Genet 29 (2001) 184-188
-
(2001)
Nat Genet
, vol.29
, pp. 184-188
-
-
Date, H.1
Onodera, O.2
Tanaka, H.3
-
98
-
-
10444275312
-
Ataxia with oculomotor apraxia type 1 in southern Italy: late onset and variable phenotype
-
Criscuolo C., Mancini P., Sacca F., et al. Ataxia with oculomotor apraxia type 1 in southern Italy: late onset and variable phenotype. Neurology 63 (2004) 2173-2175
-
(2004)
Neurology
, vol.63
, pp. 2173-2175
-
-
Criscuolo, C.1
Mancini, P.2
Sacca, F.3
-
99
-
-
4644369308
-
Aprataxin gene mutations in Tunisian families
-
Amouri R., Moreira M., Zouari M., et al. Aprataxin gene mutations in Tunisian families. Neurology 63 (2004) 928-929
-
(2004)
Neurology
, vol.63
, pp. 928-929
-
-
Amouri, R.1
Moreira, M.2
Zouari, M.3
-
100
-
-
0344875066
-
Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies
-
Le Ber I., Moreira M., Rivaud-Pechoux S., et al. Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies. Brain 126 (2003) 2761-2772
-
(2003)
Brain
, vol.126
, pp. 2761-2772
-
-
Le Ber, I.1
Moreira, M.2
Rivaud-Pechoux, S.3
-
101
-
-
0037183505
-
Early-onset ataxia with oculomotor apraxia and hypoalbuminemia: the aprataxin gene mutations
-
Shimazaki H., Takiyama Y., Sakoe K., et al. Early-onset ataxia with oculomotor apraxia and hypoalbuminemia: the aprataxin gene mutations. Neurology 59 (2002) 590-595
-
(2002)
Neurology
, vol.59
, pp. 590-595
-
-
Shimazaki, H.1
Takiyama, Y.2
Sakoe, K.3
-
102
-
-
0035125621
-
Homozygosity mapping of Portuguese and Japanese forms of ataxia-oculomotor apraxia to 9p13, and evidence for genetic heterogeneity
-
Moreira M., Barbot C., Tachi N., 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 (2001) 501-508
-
(2001)
Am J Hum Genet
, vol.68
, pp. 501-508
-
-
Moreira, M.1
Barbot, C.2
Tachi, N.3
-
103
-
-
33744937625
-
Aprataxin forms a discrete branch in the HIT (histidine triad) superfamily of proteins with both DNA/RNA bindings and nucleotide hydrolase activities
-
Kijas A., Harris J., Harris J., and Lavin M. Aprataxin forms a discrete branch in the HIT (histidine triad) superfamily of proteins with both DNA/RNA bindings and nucleotide hydrolase activities. J Biol Chem 281 (2006) 13939-13948
-
(2006)
J Biol Chem
, vol.281
, pp. 13939-13948
-
-
Kijas, A.1
Harris, J.2
Harris, J.3
Lavin, M.4
-
104
-
-
15044357229
-
The novel human gene aprataxin is directly involved in DNA single-strand-break repair
-
Mosesso P., Piane M., Palitti F., Pepe G., Penna S., and Chessa L. The novel human gene aprataxin is directly involved in DNA single-strand-break repair. Cell Mol Life Sci 62 (2005) 485-491
-
(2005)
Cell Mol Life Sci
, vol.62
, pp. 485-491
-
-
Mosesso, P.1
Piane, M.2
Palitti, F.3
Pepe, G.4
Penna, S.5
Chessa, L.6
-
105
-
-
11144355513
-
Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients
-
Le Ber I., Bouslam N., Rivaud-Pechoux S., et al. Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients. Brain 127 (2004) 759-767
-
(2004)
Brain
, vol.127
, pp. 759-767
-
-
Le Ber, I.1
Bouslam, N.2
Rivaud-Pechoux, S.3
-
106
-
-
10744230604
-
Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2
-
Moreira M., Klur S., Watanabe M., et al. Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2. Nat Genet 36 (2004) 225-227
-
(2004)
Nat Genet
, vol.36
, pp. 225-227
-
-
Moreira, M.1
Klur, S.2
Watanabe, M.3
-
107
-
-
20044374998
-
Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy
-
Duquette A., Roddier K., McNabb-Baltar J., et al. Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy. Ann Neurol 57 (2005) 408-414
-
(2005)
Ann Neurol
, vol.57
, pp. 408-414
-
-
Duquette, A.1
Roddier, K.2
McNabb-Baltar, J.3
-
108
-
-
33646694334
-
Ataxia with oculomotor apraxia type 2: a clinical, pathologic, and genetic study
-
Criscuolo C., Chessa L., Di Giandomenico S., et al. Ataxia with oculomotor apraxia type 2: a clinical, pathologic, and genetic study. Neurology 66 (2006) 1207-1210
-
(2006)
Neurology
, vol.66
, pp. 1207-1210
-
-
Criscuolo, C.1
Chessa, L.2
Di Giandomenico, S.3
-
109
-
-
33745131439
-
Senataxin, the yeast Sen1p orthologue: characterization of a unique protein in which recessive mutations cause ataxia and dominant mutations cause motor neuron disease
-
Chen Y., Hashemi S., Anderson S., et al. Senataxin, the yeast Sen1p orthologue: characterization of a unique protein in which recessive mutations cause ataxia and dominant mutations cause motor neuron disease. Neurobiol Dis 23 (2006) 97-108
-
(2006)
Neurobiol Dis
, vol.23
, pp. 97-108
-
-
Chen, Y.1
Hashemi, S.2
Anderson, S.3
-
110
-
-
2342453900
-
Multiple protein/protein and protein/RNA interactions suggest roles for yeast DNA/RNA helicase Sen1p in transcription, transcription-coupled DNA repair, and RNA processing
-
Ursic D., Chinchilla K., Finkel J., and Culbertson M. Multiple protein/protein and protein/RNA interactions suggest roles for yeast DNA/RNA helicase Sen1p in transcription, transcription-coupled DNA repair, and RNA processing. Nucleic Acids Res 32 (2004) 2441-2452
-
(2004)
Nucleic Acids Res
, vol.32
, pp. 2441-2452
-
-
Ursic, D.1
Chinchilla, K.2
Finkel, J.3
Culbertson, M.4
-
111
-
-
2442658908
-
DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4)
-
Chen Y., Bennett C., Huynh H., et al. DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). Am J Hum Genet 74 (2004) 1128-1135
-
(2004)
Am J Hum Genet
, vol.74
, pp. 1128-1135
-
-
Chen, Y.1
Bennett, C.2
Huynh, H.3
-
112
-
-
0032190911
-
Autosomal recessive spastic ataxia of Charlevoix-Saguenay
-
Bouchard J., Richter A., Mathieu J., et al. Autosomal recessive spastic ataxia of Charlevoix-Saguenay. Neuromuscul Disord 8 (1998) 474-479
-
(1998)
Neuromuscul Disord
, vol.8
, pp. 474-479
-
-
Bouchard, J.1
Richter, A.2
Mathieu, J.3
-
113
-
-
0038037554
-
Phenotypic features and genetic findings in sacsin-related autosomal recessive ataxia in Tunisia
-
El Euch-Fayache G., Lalani I., Amouri R., et al. Phenotypic features and genetic findings in sacsin-related autosomal recessive ataxia in Tunisia. Arch Neurol 60 (2003) 982-988
-
(2003)
Arch Neurol
, vol.60
, pp. 982-988
-
-
El Euch-Fayache, G.1
Lalani, I.2
Amouri, R.3
-
114
-
-
0034636165
-
Linkage to chromosome 13q11-12 of an autosomal recessive cerebellar ataxia in a Tunisian family
-
Mrissa N., Belal S., Ben Hamida C., et al. Linkage to chromosome 13q11-12 of an autosomal recessive cerebellar ataxia in a Tunisian family. Neurology 54 (2000) 1408-1414
-
(2000)
Neurology
, vol.54
, pp. 1408-1414
-
-
Mrissa, N.1
Belal, S.2
Ben Hamida, C.3
-
115
-
-
5444228798
-
Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey
-
Richter A., Ozgul R., Poisson V., and Topaloglu H. Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey. Neurogenetics 5 (2004) 165-170
-
(2004)
Neurogenetics
, vol.5
, pp. 165-170
-
-
Richter, A.1
Ozgul, R.2
Poisson, V.3
Topaloglu, H.4
-
116
-
-
0343384355
-
ARSACS, a spastic ataxia common in northeastern Quebec, is caused by mutations in a new gene encoding an 11.5-kb ORF
-
Engert J., Berube P., Mercier J., 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 (2000) 120-125
-
(2000)
Nat Genet
, vol.24
, pp. 120-125
-
-
Engert, J.1
Berube, P.2
Mercier, J.3
-
117
-
-
9144241657
-
A novel mutation in SACS gene in a family from southern Italy
-
Criscuolo C., Banfi S., Orio M., et al. A novel mutation in SACS gene in a family from southern Italy. Neurology 62 (2004) 100-102
-
(2004)
Neurology
, vol.62
, pp. 100-102
-
-
Criscuolo, C.1
Banfi, S.2
Orio, M.3
-
118
-
-
27844446656
-
Novel Mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia
-
Criscuolo C., Sacca F., De Michele G., et al. Novel Mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia. Mov Disord 20 (2005) 1358-1361
-
(2005)
Mov Disord
, vol.20
, pp. 1358-1361
-
-
Criscuolo, C.1
Sacca, F.2
De Michele, G.3
-
119
-
-
9144226226
-
Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type
-
Grieco G., Malandrini A., Comanducci G., et al. Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type. Neurology 62 (2004) 103-106
-
(2004)
Neurology
, vol.62
, pp. 103-106
-
-
Grieco, G.1
Malandrini, A.2
Comanducci, G.3
-
120
-
-
0347236900
-
Identification of a SACS gene missense mutation in ARSACS
-
Ogawa T., Takiyama Y., Sakoe K., et al. Identification of a SACS gene missense mutation in ARSACS. Neurology 62 (2004) 107-109
-
(2004)
Neurology
, vol.62
, pp. 107-109
-
-
Ogawa, T.1
Takiyama, Y.2
Sakoe, K.3
-
121
-
-
18144430899
-
Sacsin-related autosomal recessive ataxia without prominent retinal myelinated fibers in Japan
-
Hara K., Onodera O., Endo M., et al. Sacsin-related autosomal recessive ataxia without prominent retinal myelinated fibers in Japan. Mov Disord 20 (2005) 380-382
-
(2005)
Mov Disord
, vol.20
, pp. 380-382
-
-
Hara, K.1
Onodera, O.2
Endo, M.3
-
122
-
-
27544440060
-
Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins twinkle and twinky
-
Nikali K., Suomalainen A., Saharinen J., et al. Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins twinkle and twinky. Hum Mol Genet 14 (2005) 2981-2990
-
(2005)
Hum Mol Genet
, vol.14
, pp. 2981-2990
-
-
Nikali, K.1
Suomalainen, A.2
Saharinen, J.3
-
123
-
-
0032569825
-
Infantile onset spinocerebellar ataxia with sensory neuropathy (IOSCA): neuropathological features
-
Lonnqvist T., Paetau A., Nikali K., von Boguslawski K., and Pihko H. Infantile onset spinocerebellar ataxia with sensory neuropathy (IOSCA): neuropathological features. J Neurol Sci 161 (1998) 57-65
-
(1998)
J Neurol Sci
, vol.161
, pp. 57-65
-
-
Lonnqvist, T.1
Paetau, A.2
Nikali, K.3
von Boguslawski, K.4
Pihko, H.5
-
124
-
-
0029925102
-
A cerebellar ataxia locus identified by DNA pooling to search for linkage disequilibrium in an isolated population from the Cayman Islands
-
Nystuen A., Benke P., Merren J., Stone E., and Sheffield V. A cerebellar ataxia locus identified by DNA pooling to search for linkage disequilibrium in an isolated population from the Cayman Islands. Hum Mol Genet 5 (1996) 525-531
-
(1996)
Hum Mol Genet
, vol.5
, pp. 525-531
-
-
Nystuen, A.1
Benke, P.2
Merren, J.3
Stone, E.4
Sheffield, V.5
-
125
-
-
0242361309
-
Mutations in a novel gene encoding a CRAL-TRIO domain cause human Cayman ataxia and ataxia/dystonia in the jittery mouse
-
Bomar J., Benke P., Slattery E., et al. Mutations in a novel gene encoding a CRAL-TRIO domain cause human Cayman ataxia and ataxia/dystonia in the jittery mouse. Nat Genet 35 (2003) 264-269
-
(2003)
Nat Genet
, vol.35
, pp. 264-269
-
-
Bomar, J.1
Benke, P.2
Slattery, E.3
-
126
-
-
33748789320
-
Brain-specific BNIP-2-homology protein Caytaxin relocalizes glutaminase to neurite terminals and reduces glutamate levels
-
Buschdorf J., Chew L., Zhang B., et al. Brain-specific BNIP-2-homology protein Caytaxin relocalizes glutaminase to neurite terminals and reduces glutamate levels. J Cell Sci 119 (2006) 3337-3350
-
(2006)
J Cell Sci
, vol.119
, pp. 3337-3350
-
-
Buschdorf, J.1
Chew, L.2
Zhang, B.3
-
127
-
-
14044258664
-
Marinesco-Sjogren syndrome in a male with mild dysmorphism
-
Slavotinek A., Goldman J., Weisiger K., et al. Marinesco-Sjogren syndrome in a male with mild dysmorphism. Am J Med Genet A 133 (2005) 197-201
-
(2005)
Am J Med Genet A
, vol.133
, pp. 197-201
-
-
Slavotinek, A.1
Goldman, J.2
Weisiger, K.3
-
128
-
-
28444474185
-
The gene disrupted in Marinesco-Sjogren syndrome encodes SIL1, an HSPA5 cochaperone
-
Anttonen A., Mahjneh I., Hamalainen R., et al. The gene disrupted in Marinesco-Sjogren syndrome encodes SIL1, an HSPA5 cochaperone. Nat Genet 37 (2005) 1309-1311
-
(2005)
Nat Genet
, vol.37
, pp. 1309-1311
-
-
Anttonen, A.1
Mahjneh, I.2
Hamalainen, R.3
-
129
-
-
28444497039
-
Mutations in SIL1 cause Marinesco-Sjogren syndrome, a cerebellar ataxia with cataract and myopathy
-
Senderek J., Krieger M., Stendel C., et al. Mutations in SIL1 cause Marinesco-Sjogren syndrome, a cerebellar ataxia with cataract and myopathy. Nat Genet 37 (2005) 1312-1314
-
(2005)
Nat Genet
, vol.37
, pp. 1312-1314
-
-
Senderek, J.1
Krieger, M.2
Stendel, C.3
|