Literature DB >> 32146693

Neurological Phenotypes Associated with AAAS-Related Disorders: Spastic Ataxia and Complex Spastic Paraplegia.

Cláudia Fernandes Lorea1,2, Renata Barreto Tenório2, Michel Koenig3, Angela Huebner4, Katrin Koehler4, David Devos5,6, Claire Guissart3, Jonas Alex Morales Saute7,8,9,10.   

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Year:  2020        PMID： 32146693     DOI： 10.1007/s12311-020-01123-9

Source DB:  PubMed          Journal:  Cerebellum        ISSN： 1473-4222            Impact factor:   3.847


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  6 in total

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

Authors:  C Palka; R Giuliani; F Brancati; A Mohn; A Di Muzio; O Calabrese; A Huebner; D De Grandis; F Chiarelli; A Ferlini; L Stuppia
Journal:  Clin Genet       Date:  2010-03       Impact factor: 4.438

2.  Triple A syndrome in Japan.

Authors:  Masanori Ikeda; Makito Hirano; Keiich Shinoda; Noriyuki Katsumata; Daisuke Furutama; Katsuya Nakamura; Shu-Ichi Ikeda; Toshifumi Tanaka; Toshiaki Hanafusa; Hiroyuki Kitajima; Hitoshi Kohno; Mizuho Nakagawa; Yusaku Nakamura; Satoshi Ueno
Journal:  Muscle Nerve       Date:  2013-07-17       Impact factor: 3.217

3.  Neurological features in adult Triple-A (Allgrove) syndrome.

Authors:  Anne-Evelyne Vallet; Annie Verschueren; Philippe Petiot; Nadia Vandenberghe; Marc Nicolino; Sabine Roman; Jean Pouget; Christophe Vial
Journal:  J Neurol       Date:  2011-06-09       Impact factor: 4.849

4.  Two patients with an identical novel mutation in the AAAS gene and similar phenotype of triple A (Allgrove) syndrome.

Authors:  I Krull; M M-Woelfle; K Bärlocher; K Koehler; A Huebner; M Brändle
Journal:  Exp Clin Endocrinol Diabetes       Date:  2010-03-03       Impact factor: 2.949

5.  Triple A syndrome: 32 years experience of a single centre (1977-2008).

Authors:  Tatjana Milenkovic; Dragan Zdravkovic; Natasa Savic; Sladjana Todorovic; Katarina Mitrovic; Katrin Koehler; Angela Huebner
Journal:  Eur J Pediatr       Date:  2010-05-25       Impact factor: 3.183

6.  Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production.

Authors:  J Allgrove; G S Clayden; D B Grant; J C Macaulay
Journal:  Lancet       Date:  1978-06-17       Impact factor: 79.321
  6 in total

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