-
1
-
-
0029821176
-
Clinical and genetic abnormalities in patients with Friedreich's ataxia
-
Durr A, Cossee M, Agid Y et al: Clinical and genetic abnormalities in patients with Friedreich's ataxia. N Engl J Med. 1996; 335(16):1169-75
-
(1996)
N Engl J Med
, vol.335
, Issue.16
, pp. 1169-1175
-
-
Durr, A.1
Cossee, M.2
Agid, Y.3
-
2
-
-
0021067564
-
The heart disease of Friedreich's ataxia: A clinical and electrocardiographic study of 115 patients, with an analysis of serial electrocardiographic changes in 30 cases
-
Harding AE, Hewer RL: The heart disease of Friedreich's ataxia: a clinical and electrocardiographic study of 115 patients, with an analysis of serial electrocardiographic changes in 30 cases. Q J Med 1983; 52:489-502
-
(1983)
Q J Med
, vol.52
, pp. 489-502
-
-
Harding, A.E.1
Hewer, R.L.2
-
3
-
-
0018956881
-
The incidence and nature of visual pathway involvement in Friedreich's ataxia. A clinical and visual evoked potential study of 22 patients
-
Carroll WM, Kriss A, Baraitser M, Barrett G, Halliday AM: The incidence and nature of visual pathway involvement in Friedreich's ataxia. A clinical and visual evoked potential study of 22 patients. Brain 1980; 103(2):413-34
-
(1980)
Brain
, vol.103
, Issue.2
, pp. 413-434
-
-
Carroll, W.M.1
Kriss, A.2
Baraitser, M.3
Barrett, G.4
Halliday, A.M.5
-
4
-
-
0021346679
-
Neuro-otological abnormalities in Friedreich's ataxia
-
EH J, Prasher D, Rudge P: Neuro-otological abnormalities in Friedreich's ataxia. J Neurol Neurosurg Psychiatry 1984; 47(1):26-32
-
(1984)
J Neurol Neurosurg Psychiatry
, vol.47
, Issue.1
, pp. 26-32
-
-
Eh, J.1
Prasher, D.2
Rudge, P.3
-
5
-
-
8544240144
-
The Friedreich ataxia GAA triplet repeat: Premutation and normal alleles
-
Montermini L, Andermann E, Labuda M et al: The Friedreich ataxia GAA triplet repeat: premutation and normal alleles. Hum Mol Genet 1997; 6(8):1261-6
-
(1997)
Hum Mol Genet
, vol.6
, Issue.8
, pp. 1261-1266
-
-
Montermini, L.1
Andermann, E.2
Labuda, M.3
-
6
-
-
0032756146
-
Clinical and genetic study of Friedreich ataxia in an Australian population
-
Delatycki MB, Paris DB, Gardner RJ et al: Clinical and genetic study of Friedreich ataxia in an Australian population. Am J Med Genet 87(2):168-74
-
Am J Med Genet
, vol.87
, Issue.2
, pp. 168-174
-
-
Delatycki, M.B.1
Paris, D.B.2
Gardner, R.J.3
-
7
-
-
0029757676
-
The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia
-
Filla A, De Michele G, Cavalcanti F et al: The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia. Am J Hum Genet. 1996; 59(3):554-60
-
(1996)
Am J Hum Genet
, vol.59
, Issue.3
, pp. 554-560
-
-
Filla, A.1
De Michele, G.2
Cavalcanti, F.3
-
8
-
-
0023802480
-
Glucose metabolism alterations in Friedreich's ataxia
-
Finocchiaro G, Baio G, Micossi P et al: Glucose metabolism alterations in Friedreich's ataxia. Neurology 1988; 38(8):1292-6
-
(1988)
Neurology
, vol.38
, Issue.8
, pp. 1292-1296
-
-
Finocchiaro, G.1
Baio, G.2
Micossi, P.3
-
9
-
-
0027534291
-
Evidence for abnormal regulation of insulin receptors in Friedreich's ataxia
-
Fantus IG, Seni MH, Andermann E: Evidence for abnormal regulation of insulin receptors in Friedreich's ataxia. J Clin Endocrinol Metab 1993; 76(1):60-3
-
(1993)
J Clin Endocrinol Metab
, vol.76
, Issue.1
, pp. 60-63
-
-
Fantus, I.G.1
Seni, M.H.2
Andermann, E.3
-
10
-
-
85047690706
-
Frataxin deficiency in pancreatic islets causes diabetes due to loss of beta cell mass
-
Ristow M, Mulder H, Pomplun D et al: Frataxin deficiency in pancreatic islets causes diabetes due to loss of beta cell mass. J Clin Invest 2003; 112(4):527-34
-
(2003)
J Clin Invest
, vol.112
, Issue.4
, pp. 527-534
-
-
Ristow, M.1
Mulder, H.2
Pomplun, D.3
-
11
-
-
0031919090
-
An association between NIDDM and a GAA trinucleotide repeat polymorphism in the X25/frataxin (Friedreich's ataxia) gene
-
Ristow M, Giannakidou E, Hebinck J et al: An association between NIDDM and a GAA trinucleotide repeat polymorphism in the X25/frataxin (Friedreich's ataxia) gene. Diabetes 1998; 47(5):851-4.
-
(1998)
Diabetes
, vol.47
, Issue.5
, pp. 851-854
-
-
Ristow, M.1
Giannakidou, E.2
Hebinck, J.3
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