Triple a syndrome in Japan-Reference-Cited by-同舟云学术

Triple a syndrome in Japan

Published:2013-07-17 Issue:3 Volume:48 Page:381-386
ISSN:0148-639X
Container-title:Muscle & Nerve
language:en
Short-container-title:Muscle Nerve

Author:

Ikeda Masanori¹,Hirano Makito¹²,Shinoda Keiich³,Katsumata Noriyuki⁴,Furutama Daisuke⁵,Nakamura Katsuya⁶,Ikeda Shu-Ichi⁶,Tanaka Toshifumi⁷,Hanafusa Toshiaki⁵,Kitajima Hiroyuki⁸,Kohno Hitoshi⁹,Nakagawa Mizuho¹⁰,Nakamura Yusaku²,Ueno Satoshi¹

Affiliation:

1. Department of Neurology; Nara Medical University School of Medicine; Kashihara, Nara Japan

2. Department of Neurology; Sakai Hospital Kinki University Faculty of Medicine; 2-7-1 Harayamadai, Minami-ku, Sakai Osaka 590-0132 Japan

3. Department of Physical Therapy; Faculty of Nursing and Rehabilitation; Aino University; Takatsuki, Osaka Japan

4. Department of Molecular Endocrinology; National Research Institute for Child Health and Development; Tokyo Japan

5. First Department of Internal Medicine; Osaka Medical College; Osaka Japan

6. Department of Medicine (Neurology and Rheumatology); Shinshu University School of Medicine; Matsumoto Japan

7. Department of Medical Engineering; Faculty of Nursing and Rehabilitation; Aino University; Takasuki, Osaka Japan

8. Department of Neonatology; Osaka Medical Center and Research Institute for Maternal and Child Health; Osaka Japan

9. Department of Endocrinology and Metabolism; Fukuoka Children's Hospital; Fukuoka Japan

10. Department of Internal Medicine; Fukuoka Red Cross Hospital; Fukuoka Japan

Publisher

Wiley

Subject

Physiology (medical),Cellular and Molecular Neuroscience,Neurology (clinical),Physiology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/mus.23770/fullpdf

Reference16 articles.

1. Mutant WD-repeat protein in triple-A syndrome;Tullio-Pelet;Nat Genet,2000

2. Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene;Handschug;Hum Mol Genet,2001

3. The nuclear pore complex protein ALADIN is mislocalized in triple A syndrome;Cronshaw;Proc Natl Acad Sci USA,2003

4. Triple A syndrome mimicking ALS;Strauss;Amyotroph Lateral Scler,2008

5. Allgrove syndrome in adulthood;Bentes;Muscle Nerve,2001

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1. A case of triple A syndrome with c.463C>T mutation in the <i>AAAS</i> gene;Rinsho Shinkeigaku;2022

2. Allgrove syndrome with amyotrophy;Practical Neurology;2021-12-30

3. Achalasia in Children—Clinical Presentation, Diagnosis, Long-Term Treatment Outcomes, and Quality of Life;Journal of Clinical Medicine;2021-08-30

4. Sporadic Triple A (Allgrove) Syndrome with Novel Tandem Mutations;Internal Medicine;2021-03-01

5. Triple-A Syndrome (TAS): An In-Depth Overview on Genetic and Phenotype Heterogeneity;Protein & Peptide Letters;2020-12-02