-
1
-
-
0017845477
-
Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production
-
Allgrove J, Clayden GS, Grant DB, Macaulay JC (1978) Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production. Lancet 1:1284-1286 (Pubitemid 8363526)
-
(1978)
Lancet
, vol.1
, Issue.8077
, pp. 1284-1286
-
-
Allgrove, J.1
Clayden, G.S.2
Grant, D.B.3
Macaulay, J.C.4
-
2
-
-
0035253397
-
Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene
-
Handschug K, Sperling S, Yoon SJ, Hennig S, Clark AJ, Huebner A (2001) Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene. Hum Mol Genet 10:283-290 (Pubitemid 32123986)
-
(2001)
Human Molecular Genetics
, vol.10
, Issue.3
, pp. 283-290
-
-
Handschug, K.1
Sperling, S.2
Yoon, S.-J.K.3
Hennig, S.4
Clark, A.J.L.5
Huebner, A.6
-
4
-
-
0038299041
-
Allgrove or 4 ''A'' syndrome: An autosomal recessive syndrome causing multisystem neurological disease
-
Kimber J, McLean BN, Prevett M, Hammans SR (2003) Allgrove or 4 ''A'' syndrome: an autosomal recessive syndrome causing multisystem neurological disease. J Neurol Neurosurg Psychiatry 74:654-657
-
(2003)
J Neurol Neurosurg Psychiatry
, vol.74
, pp. 654-657
-
-
Kimber, J.1
McLean, B.N.2
Prevett, M.3
Hammans, S.R.4
-
5
-
-
0036896407
-
Clinical and genetic characterization of families with triple A (Allgrove) syndrome
-
Houlden H, Smith S, De Carvalho M, Blake J, Mathias C, Wood NW, Reilly MM (2002) Clinical and genetic characterization of families with triple A (Allgrove) syndrome. Brain 125:2681-2690 (Pubitemid 35423517)
-
(2002)
Brain
, vol.125
, Issue.12
, pp. 2681-2690
-
-
Houlden, H.1
Smith, S.2
De Carvalho, M.3
Blake, J.4
Mathias, C.5
Wood, N.W.6
Reilly, M.M.7
-
6
-
-
0035140120
-
Allgrove syndrome in adulthood
-
DOI 10.1002/1097-4598(2001 02)24:2<292::A ID-MUS160>3.0.CO;2-X
-
Bentes C, Santos-Bento M, de Sá J, de Lurdes Sales Luís L, de Carvalho M (2001) Allgrove syndrome in adulthood. Muscle Nerve 24:292-296 (Pubitemid 32105827)
-
(2001)
Muscle and Nerve
, vol.24
, Issue.2
, pp. 292-296
-
-
Bentes, C.1
Santos-Bento, M.2
De Sa, J.3
De Luis, M.L.S.4
De Carvalho, M.5
-
7
-
-
0027324668
-
Neurological and adrenal dysfunction in the adrenal insufficiency/ alacrima/achalasia (3A) syndrome
-
Grant DB, Barnes ND, Dumic M, Ginalska-Malinowska M, Milla PJ, von Petrykowski W, Rowlatt RJ, Steendijk R, Wales JH, Werder E (1993) Neurological and adrenal dysfunction in the adrenal insufficiency/alacrima/achalasia (3A) syndrome. Arch Dis Child 68:779-782 (Pubitemid 23199867)
-
(1993)
Archives of Disease in Childhood
, vol.68
, Issue.6
, pp. 779-782
-
-
Grant, D.B.1
Barnes, N.D.2
Dumic, M.3
Ginalska-Malinowska, M.4
Milla, P.J.5
Petrykowski, V.W.6
Rowlatt, R.J.7
Steendijk, R.8
Wales, J.H.K.9
Werder, E.10
-
8
-
-
0028950105
-
The "4A" syndrome: Adrenocortical insufficiency associated with achalasia, alacrima, autonomic and other neurological abnormalities
-
Gazarian M, Cowell CT, Bonney M, Grigor WG (1995) The ''4A'' syndrome: adrenocortical insufficiency associated with achalasia, alacrima, autonomic and other neurological abnormalities. Eur J Pediatr 154:18-23
-
(1995)
Eur J Pediatr
, vol.154
, pp. 18-23
-
-
Gazarian, M.1
Cowell, C.T.2
Bonney, M.3
Grigor, W.G.4
-
9
-
-
77956672211
-
Adult or late-onset triple A syndrome: Case report and literature review
-
Nakamura K, Yoshida K, Yoshinaga T, Kodaira M, Shimojima Y, Takei Y, Morita H, Kayanuma K, Ikeda S (2010) Adult or late-onset triple A syndrome: case report and literature review. J Neurol Sci 297:85-88
-
(2010)
J Neurol Sci
, vol.297
, pp. 85-88
-
-
Nakamura, K.1
Yoshida, K.2
Yoshinaga, T.3
Kodaira, M.4
Shimojima, Y.5
Takei, Y.6
Morita, H.7
Kayanuma, K.8
Ikeda, S.9
-
10
-
-
54449091038
-
Lateonset triple A syndrome: A risk of overlooked or delayed diagnosis and management
-
Salmaggi A, Zirilli L, Pantaleoni C, De Joanna G, Del Sorbo F, Koehler K, Krumbholz M, Huebner A, Rochira V (2008) Lateonset triple A syndrome: a risk of overlooked or delayed diagnosis and management. Horm Res 70:364-372
-
(2008)
Horm Res
, vol.70
, pp. 364-372
-
-
Salmaggi, A.1
Zirilli, L.2
Pantaleoni, C.3
De Joanna, G.4
Del Sorbo, F.5
Koehler, K.6
Krumbholz, M.7
Huebner, A.8
Rochira, V.9
-
11
-
-
0033763096
-
Mutant WD-repeat protein in triple- A syndrome
-
Tullio-Pelet A, Salomon R, Hadj-Rabia S, Mugnier C, de Laet MH, Chaouachi B, Bakiri F, Brottier P, Cattolico L, Penet C, Bégeot M, Naville D, Nicolino M, Chaussain JL, Weissenbach J, Munnich A, Lyonnet S (2000) Mutant WD-repeat protein in triple- A syndrome. Nat Genet 26:332-335
-
(2000)
Nat Genet
, vol.26
, pp. 332-335
-
-
Tullio-Pelet, A.1
Salomon, R.2
Hadj-Rabia, S.3
Mugnier, C.4
De Laet, M.H.5
Chaouachi, B.6
Bakiri, F.7
Brottier, P.8
Cattolico, L.9
Penet, C.10
Bégeot, M.11
Naville, D.12
Nicolino, M.13
Chaussain, J.L.14
Weissenbach, J.15
Munnich, A.16
Lyonnet, S.17
-
12
-
-
8844285989
-
Two cases of allgrove syndrome with mutations in the AAAS gene
-
DOI 10.1507/endocrj.51.473
-
Kinjo S, Takemoto M, Miyako K, Kohno H, Tanaka T, Katsumata N (2004) Two cases of Allgrove syndrome with mutations in the AAAS gene. Endocr J 51:473-477 (Pubitemid 39536355)
-
(2004)
Endocrine Journal
, vol.51
, Issue.5
, pp. 473-477
-
-
Kinjo, S.1
Takemoto, M.2
Miyako, K.3
Kohno, H.4
Tanaka, T.5
Katsumata, N.6
-
13
-
-
33646094484
-
A novel AAAS gene mutation (p R194X) in a patient with triple A syndrome
-
Dusek T, Korsic M, Koehler K, Perkovic Z, Huebner A, Korsic M (2006) A novel AAAS gene mutation (p.R194X) in a patient with triple A syndrome. Horm Res 65:171-176
-
(2006)
Horm Res
, vol.65
, pp. 171-176
-
-
Dusek, T.1
Korsic, M.2
Koehler, K.3
Perkovic, Z.4
Huebner, A.5
Korsic, M.6
-
14
-
-
0037177071
-
Progressive bulbospinal amyotrophy in Triple A syndrome with AAAS gene mutation
-
Goizet C, Catargi B, Tison F, Tullio-Pelet A, Hadj-Rabia S, Pujol F, Lagueny A, Lyonnet S, Lacombe D (2002) Progressive bulbospinal amyotrophy in triple A syndrome with AAAS gene mutation. Neurology 58:962-965 (Pubitemid 34242077)
-
(2002)
Neurology
, vol.58
, Issue.6
, pp. 962-965
-
-
Goizet, C.1
Catargi, B.2
Tison, F.3
Tullio-Pelet, A.4
Hadj-Rabia, S.5
Pujol, F.6
Lagueny, A.7
Lyonnet, S.8
Lacombe, D.9
-
15
-
-
38049059887
-
Case report of adult-onset Allgrove syndrome
-
Gilio F, Di Rezze S, Conte A, Frasca V, Iacovelli E, Marini Bettolo C, Gabriele M, Giacomelli E, Pizzuti A, Pirro C, Fattapposta F, Habib FI, Prencipe M, Inghilleri M (2007) Case report of adult-onset Allgrove syndrome. Neurol Sci 28:331-335
-
(2007)
Neurol Sci
, vol.28
, pp. 331-335
-
-
Gilio, F.1
Di Rezze, S.2
Conte, A.3
Frasca, V.4
Iacovelli, E.5
Marini Bettolo, C.6
Gabriele, M.7
Giacomelli, E.8
Pizzuti, A.9
Pirro, C.10
Fattapposta, F.11
Habib, F.I.12
Prencipe, M.13
Inghilleri, M.14
-
16
-
-
0037058783
-
Progressive bulbospinal amyotrophy in triple A syndrome with AAAS gene mutation [4] (multiple letters)
-
de Carvalho M, Houlden H (2002) Progressive bulbospinal amyotrophy in triple A syndrome with AAAS gene mutation. Neurology 59:1823 (Pubitemid 35424486)
-
(2002)
Neurology
, vol.59
, Issue.11
, pp. 1823
-
-
De Carvalho, M.1
Houlden, H.2
Goizet, C.3
Lacombe, D.4
-
17
-
-
0042131835
-
Triple A syndrome: Genotype-phenotype assessment
-
DOI 10.1034/j.1399-0004.2003.00070.x
-
Prpic I, Huebner A, Persic M, Handschug K, Pavletic M (2003) Triple A syndrome: genotype-phenotype assessment. Clin Genet 63:415-417 (Pubitemid 36944085)
-
(2003)
Clinical Genetics
, vol.63
, Issue.5
, pp. 415-417
-
-
Prpic, I.1
Huebner, A.2
Persic, M.3
Handschug, K.4
Pavletic, M.5
-
18
-
-
52649160351
-
Triple A syndrome mimicking ALS
-
Strauss M, Koehler K, Krumbholz M, Huebner A, Zierz S, Deschauer M (2008) Triple A syndrome mimicking ALS. Amyotroph Lateral Scler 9:315-317
-
(2008)
Amyotroph Lateral Scler
, vol.9
, pp. 315-317
-
-
Strauss, M.1
Koehler, K.2
Krumbholz, M.3
Huebner, A.4
Zierz, S.5
Deschauer, M.6
-
19
-
-
33748673800
-
Allgrove syndrome with features of familial dysautonomia: A novel mutation in the AAAS gene
-
DOI 10.1080/08035250500538999, PII KG47166465372241
-
Ismail EA, Tulliot-Pelet A, Mohsen AM, Al-Saleh Q (2006) Allgrove syndrome with features of familial dysautonomia: a novel mutation in the AAAS gene. Acta Paediatr 95:1140-1143 (Pubitemid 44385123)
-
(2006)
Acta Paediatrica, International Journal of Paediatrics
, vol.95
, Issue.9
, pp. 1140-1143
-
-
Ismail, E.A.1
Tulliot-Pelet, A.2
Mohsen, A.M.3
Al-Saleh, Q.4
-
20
-
-
0023144717
-
Familial achalasia associated with adrenocortical insufficiency, alacrima, and neurological abnormalities
-
DOI 10.1002/ajmg.1320260319
-
Ehrich E, Aranoff G, Johnson WG (1987) Familial achalasia associated with adrenocortical insufficiency, alacrima, and neurological abnormalities. Am J Med Genet 26:637-644 (Pubitemid 17024091)
-
(1987)
American Journal of Medical Genetics
, vol.26
, Issue.3
, pp. 637-644
-
-
Ehrich, E.1
Aranoff, G.2
Johnson, W.G.3
-
21
-
-
0026019711
-
Allgrove syndrome: An autosomal recessive syndrome of ACTH insensitivity, achalasia and alacrima
-
Moore PS, Couch RM, Perry YS, Shuckett EP, Winter JS (1991) Allgrove syndrome: an autosomal recessive syndrome of ACTH insensitivity, achalasia and alacrima. Clin Endocrinol 34:107-114
-
(1991)
Clin Endocrinol
, vol.34
, pp. 107-114
-
-
Moore, P.S.1
Couch, R.M.2
Perry, Y.S.3
Shuckett, E.P.4
Winter, J.S.5
-
22
-
-
4544262205
-
Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAAS gene: A case report
-
Brooks BP, Kleta R, Caruso RC, Stuart C, Ludlow J, Stratakis CA (2004) Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAAS gene: a case report. BMC Ophthalmol 4:7
-
(2004)
BMC Ophthalmol
, vol.4
, pp. 7
-
-
Brooks, B.P.1
Kleta, R.2
Caruso, R.C.3
Stuart, C.4
Ludlow, J.5
Stratakis, C.A.6
-
23
-
-
56749097504
-
Axonal neuropathy with unusual pattern of amyotrophy and alacrima associated with a novel AAAS mutation p.Leu430Phe
-
Koehler K, Brockmann K, Krumbholz M, Kind B, Bönnemann C, Gärtner J, Huebner A (2008) Axonal neuropathy with unusual pattern of amyotrophy and alacrima associated with a novel AAAS mutation p.Leu430Phe. Eur J Hum Genet 16:1499-1506
-
(2008)
Eur J Hum Genet
, vol.16
, pp. 1499-1506
-
-
Koehler, K.1
Brockmann, K.2
Krumbholz, M.3
Kind, B.4
Bönnemann, C.5
Gärtner, J.6
Huebner, A.7
-
24
-
-
3042534426
-
Myoclonus and generalized digestive dysmotility in triple A syndrome with AAAS gene mutation
-
DOI 10.1002/mds.10660
-
Roubergue A, Apartis E, Vidailhet M, Mignot C, Tullio-Pelet A, Lyonnet S, de Villemeur TB (2004) Myoclonus and generalized digestive dysmotility in triple A syndrome with AAAS gene mutation. Mov Disord 19:344-346 (Pubitemid 38961093)
-
(2004)
Movement Disorders
, vol.19
, Issue.3
, pp. 344-346
-
-
Roubergue, A.1
Apartis, E.2
Vidailhet, M.3
Mignot, C.4
Tullio-Pelet, A.5
Lyonnet, S.6
De Villemeur, T.B.7
-
25
-
-
12944321358
-
The diagnosis of adrenal insufficiency in a patient with Allgrove syndrome and a novel mutation in the ALADIN gene
-
DOI 10.1016/j.metabol.2004.08.013, PII S0026049504003312
-
Salehi M, Houlden H, Sheikh A, Poretsky L (2005) The diagnosis of adrenal insufficiency in a patient with Allgrove syndrome and a novel mutation in the ALADIN gene. Metabolism 54:200-205 (Pubitemid 40174848)
-
(2005)
Metabolism: Clinical and Experimental
, vol.54
, Issue.2
, pp. 200-205
-
-
Salehi, M.1
Houlden, H.2
Sheikh, A.3
Poretsky, L.4
-
26
-
-
67649653586
-
Tissue-specific expression and subcellular localization of ALADIN, the absence of which causes human triple A syndrome
-
Cho AR, Yang KJ, Bae Y, Bahk YY, Kim E, Lee H, Kim JK, Park W, Rhim H, Choi SY, Imanaka T, Moon S, Yoon J, Yoon SK (2009) Tissue-specific expression and subcellular localization of ALADIN, the absence of which causes human triple A syndrome. Exp Mol Med 41:381-386
-
(2009)
Exp Mol Med
, vol.41
, pp. 381-386
-
-
Cho, A.R.1
Yang, K.J.2
Bae, Y.3
Bahk, Y.Y.4
Kim, E.5
Lee, H.6
Kim, J.K.7
Park, W.8
Rhim, H.9
Choi, S.Y.10
Imanaka, T.11
Moon, S.12
Yoon, J.13
Yoon, S.K.14
|