Literature DB >> 19794295

Upper and lower motor neuron involvement as presenting manifestation of Triple A syndrome.

M F Messina, M Autunno, K Koehler, M Russo, T Arrigo, G Crisafulli, A Huebner, F De Luca.   

Abstract

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Year:  2009        PMID： 19794295     DOI： 10.1007/BF03346490

Source DB:  PubMed          Journal:  J Endocrinol Invest        ISSN： 0391-4097            Impact factor:   4.256


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  5 in total

1.  Triple A syndrome mimicking ALS.

Authors:  Maria Strauss; Katrin Koehler; Manuela Krumbholz; Angela Huebner; Stephan Zierz; Marcus Deschauer
Journal:  Amyotroph Lateral Scler       Date:  2008-10

Review 2.  ACTH resistance syndromes.

Authors:  A Huebner; L L Elias; A J Clark
Journal:  J Pediatr Endocrinol Metab       Date:  1999-04       Impact factor: 1.634

3.  Spectrum of mutations of the AAAS gene in Allgrove syndrome: lack of mutations in six kindreds with isolated resistance to corticotropin.

Authors:  F Sandrini; C Farmakidis; L S Kirschner; S M Wu; A Tullio-Pelet; S Lyonnet; D L Metzger; C J Bourdony; D Tiosano; W Y Chan; C A Stratakis
Journal:  J Clin Endocrinol Metab       Date:  2001-11       Impact factor: 5.958

4.  The "4A" syndrome: adrenocortical insufficiency associated with achalasia, alacrima, autonomic and other neurological abnormalities.

Authors:  M Gazarian; C T Cowell; M Bonney; W G Grigor
Journal:  Eur J Pediatr       Date:  1995-01       Impact factor: 3.183

5.  Axonal neuropathy with unusual pattern of amyotrophy and alacrima associated with a novel AAAS mutation p.Leu430Phe.

Authors:  Katrin Koehler; Knut Brockmann; Manuela Krumbholz; Barbara Kind; Carsten Bönnemann; Jutta Gärtner; Angela Huebner
Journal:  Eur J Hum Genet       Date:  2008-07-16       Impact factor: 4.246
  5 in total
  3 in total

Review 1.  Adrenal disorders and the paediatric brain: pathophysiological considerations and clinical implications.

Authors:  Vincenzo Salpietro; Agata Polizzi; Gabriella Di Rosa; Anna Claudia Romeo; Valeria Dipasquale; Paolo Morabito; Valeria Chirico; Teresa Arrigo; Martino Ruggieri
Journal:  Int J Endocrinol       Date:  2014-09-03       Impact factor: 3.257

2.  Phenotype-genotype spectrum of AAA syndrome from Western India and systematic review of literature.

Authors:  Hiren Patt; Katrin Koehler; Sailesh Lodha; Swati Jadhav; Chaitanya Yerawar; Angela Huebner; Kunal Thakkar; Sneha Arya; Sandhya Nair; Manjunath Goroshi; Hosahithlu Ganesh; Vijaya Sarathi; Anurag Lila; Tushar Bandgar; Nalini Shah
Journal:  Endocr Connect       Date:  2017-11       Impact factor: 3.335

3.  4A syndrome: ocular surface investigation in an Italian young patient.

Authors:  Pasquale Aragona; Laura Rania; Anna Maria Roszkowska; Domenico Puzzolo; Antonio Micali; Antonina Pisani; Giuseppina Salzano; Maria Francesca Messina
Journal:  BMC Ophthalmol       Date:  2014-12-08       Impact factor: 2.209
  3 in total

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