aaas gene mutation
Recently Published Documents

TOTAL DOCUMENTS

7
(FIVE YEARS 1)

H-INDEX

5
(FIVE YEARS 0)
Latest Documents Most Cited Documents Contributed Authors Related Sources Related Keywords

Triple A (Allgrove) syndrome due to AAAS gene mutation with a rare association of amyotrophy

HORMONES ◽  
2020 ◽  
Author(s):  
Satyam Singh Jayant ◽  
Rahul Gupta ◽  
Kanhaiya Agrawal ◽  
Liza Das ◽  
Pinaki Dutta ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Allgrove Syndrome ◽  
Rare Association ◽  
Aaas Gene Mutation ◽  
Aaas Gene

scholarly journals Identification of AAAS gene mutation in Allgrove syndrome: A report of three cases

2015 ◽  
Vol 10 (4) ◽  
pp. 1277-1282 ◽  
Author(s):  
WENJING LI ◽  
CHUNXIU GONG ◽  
ZHAN QI ◽  
DI WU ◽  
BINGYAN CAO
Keyword(s):  
Gene Mutation ◽  
Allgrove Syndrome ◽  
Aaas Gene Mutation ◽  
Aaas Gene

Two Italian patients with novel AAAS gene mutation expand allelic and phenotypic spectrum of triple A (Allgrove) syndrome

2010 ◽  
Vol 77 (3) ◽  
pp. 298-301 ◽  
Author(s):  
C Palka ◽  
R Giuliani ◽  
F Brancati ◽  
A Mohn ◽  
A Di Muzio ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Allgrove Syndrome ◽  
Phenotypic Spectrum ◽  
Aaas Gene Mutation ◽  
Aaas Gene

Phenotypic heterogeneity in AAAS gene mutation

2007 ◽  
Vol 93 (9) ◽  
pp. 1257-1259 ◽  
Author(s):  
P Barat ◽  
C Goizet ◽  
A Tullio-Pelet ◽  
O Puel ◽  
C Labessan ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Phenotypic Heterogeneity ◽  
Aaas Gene Mutation ◽  
Aaas Gene

Myoclonus and generalized digestive dysmotility in triple A syndrome with AAAS gene mutation

2003 ◽  
Vol 19 (3) ◽  
pp. 344-346 ◽  
Author(s):  
Anne Roubergue ◽  
Emmanuelle Apartis ◽  
Marie Vidailhet ◽  
Cyril Mignot ◽  
Anna Tullio-Pelet ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Triple A Syndrome ◽  
Aaas Gene Mutation ◽  
Aaas Gene

Progressive bulbospinal amyotrophy in triple A syndrome with AAAS gene mutation

Neurology ◽  
2002 ◽  
Vol 59 (11) ◽  
pp. 1823-1823 ◽  
Author(s):  
M. de Carvalho ◽  
H. Houlden ◽  
C. Goizet ◽  
D. Lacombe
Keyword(s):  
Gene Mutation ◽  
Triple A Syndrome ◽  
Aaas Gene Mutation ◽  
Aaas Gene

Progressive bulbospinal amyotrophy in Triple A syndrome with AAAS gene mutation

Neurology ◽  
2002 ◽  
Vol 58 (6) ◽  
pp. 962-965 ◽  
Author(s):  
C. Goizet ◽  
B. Catargi ◽  
F. Tison ◽  
A. Tullio-Pelet ◽  
S. Hadj-Rabia ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Triple A Syndrome ◽  
Aaas Gene Mutation ◽  
Aaas Gene
Load More ...
Sign in / Sign up

Export Citation Format

Share Document