Literature DB >> 7992686

Menkes disease.

S G Kaler1.   

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Year:  1994        PMID： 7992686

Source DB:  PubMed          Journal:  Adv Pediatr        ISSN： 0065-3101


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  36 in total

1.  Oxidative abnormalities in Menkes disease.

Authors:  C Rizzo; E Bertini; F Piemonte; V Leuzzi; G Sabetta; G Federici; A Luchetti; C Dionisi-Vici
Journal:  J Inherit Metab Dis       Date:  2000-06       Impact factor: 4.982

2.  Diffusion-weighted MR imaging of unusual white matter lesion in a patient with Menkes disease.

Authors:  Eun Shin Lee; Jae Wook Ryoo; Dae Seob Choi; Jae Min Cho; Soo Hyun Kwon; Hee Suk Shin
Journal:  Korean J Radiol       Date:  2007 Jan-Feb       Impact factor: 3.500

Review 3.  Menkes disease.

Authors:  Zeynep Tümer; Lisbeth B Møller
Journal:  Eur J Hum Genet       Date:  2009-11-04       Impact factor: 4.246

4.  Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy.

Authors:  Marina L Kennerson; Garth A Nicholson; Stephen G Kaler; Bartosz Kowalski; Julian F B Mercer; Jingrong Tang; Roxana M Llanos; Shannon Chu; Reinaldo I Takata; Carlos E Speck-Martins; Jonathan Baets; Leonardo Almeida-Souza; Dirk Fischer; Vincent Timmerman; Philip E Taylor; Steven S Scherer; Toby A Ferguson; Thomas D Bird; Peter De Jonghe; Shawna M E Feely; Michael E Shy; James Y Garbern
Journal:  Am J Hum Genet       Date:  2010-02-18       Impact factor: 11.025

Review 5.  ATP7A-related copper transport diseases-emerging concepts and future trends.

Authors:  Stephen G Kaler
Journal:  Nat Rev Neurol       Date:  2011-01       Impact factor: 42.937

Review 6.  Menkes disease: recent advances and new aspects.

Authors:  Z Tümer; N Horn
Journal:  J Med Genet       Date:  1997-04       Impact factor: 6.318

Review 7.  Inborn errors of copper metabolism.

Authors:  Stephen G Kaler
Journal:  Handb Clin Neurol       Date:  2013

8.  A novel two-nucleotide deletion in the ATP7A gene associated with delayed infantile onset of Menkes disease.

Authors:  Takahito Wada; Marie Reine Haddad; Ling Yi; Tomomi Murakami; Akiko Sasaki; Hiroko Shimbo; Hiroko Kodama; Hitoshi Osaka; Stephen G Kaler
Journal:  Pediatr Neurol       Date:  2014-01-05       Impact factor: 3.372

9.  Differences in ATP7A gene expression underlie intrafamilial variability in Menkes disease/occipital horn syndrome.

Authors:  Anthony Donsante; Jingrong Tang; Sarah C Godwin; Courtney S Holmes; David S Goldstein; Alexander Bassuk; Stephen G Kaler
Journal:  J Med Genet       Date:  2007-05-11       Impact factor: 6.318

10.  Internal jugular phlebectasia in Menkes disease.

Authors:  David J Price; Thyyar Ravindranath; Stephen G Kaler
Journal:  Int J Pediatr Otorhinolaryngol       Date:  2007-05-04       Impact factor: 1.675
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