Literature DB >> 33943063

Late-onset hereditary sensory and autonomic neuropathy type 2B caused by novel compound heterozygous mutations in FAM134B presenting as chronic recurrent ulcers on the soles.

Ze-Yu Luo1, Hui-Jun Wang2, Yu-Kun Zhao1, Juan-Hua Liu1, Ying-Ming Chen3, Zhi-Miao Lin2, Di-Qing Luo1.   

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Year:  2021        PMID： 33943063     DOI： 10.25259/IJDVL_519_20

Source DB:  PubMed          Journal:  Indian J Dermatol Venereol Leprol        ISSN： 0378-6323            Impact factor:   2.545


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  5 in total

1.  Mutation in FAM134B causing hereditary sensory neuropathy with spasticity in a Turkish family.

Authors:  Elif Ilgaz Aydinlar; Arndt Rolfs; Mustafa Serteser; Yesim Parman
Journal:  Muscle Nerve       Date:  2014-05       Impact factor: 3.217

Review 2.  RETREG1 (FAM134B): A new player in human diseases: 15 years after the discovery in cancer.

Authors:  Farhadul Islam; Vinod Gopalan; Alfred King-Yin Lam
Journal:  J Cell Physiol       Date:  2018-01-15       Impact factor: 6.384

3.  Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy.

Authors:  Ingo Kurth; Torsten Pamminger; J Christopher Hennings; Désirée Soehendra; Antje K Huebner; Annelies Rotthier; Jonathan Baets; Jan Senderek; Haluk Topaloglu; Sandra A Farrell; Gudrun Nürnberg; Peter Nürnberg; Peter De Jonghe; Andreas Gal; Christoph Kaether; Vincent Timmerman; Christian A Hübner
Journal:  Nat Genet       Date:  2009-10-18       Impact factor: 38.330

4.  Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort.

Authors:  G L Davidson; S M Murphy; J M Polke; M Laura; M A M Salih; F Muntoni; J Blake; S Brandner; N Davies; R Horvath; S Price; M Donaghy; M Roberts; N Foulds; G Ramdharry; D Soler; M P Lunn; H Manji; M B Davis; H Houlden; M M Reilly
Journal:  J Neurol       Date:  2012-08       Impact factor: 4.849

5.  Mutation in FAM134B causing severe hereditary sensory neuropathy.

Authors:  Sinéad M Murphy; Gabrielle L Davidson; Sebastian Brandner; Henry Houlden; Mary M Reilly
Journal:  J Neurol Neurosurg Psychiatry       Date:  2010-11-28       Impact factor: 10.154
  5 in total
  1 in total

Review 1.  Genetic pain loss disorders.

Authors:  Annette Lischka; Petra Lassuthova; Arman Çakar; Christopher J Record; Jonas Van Lent; Jonathan Baets; Maike F Dohrn; Jan Senderek; Angelika Lampert; David L Bennett; John N Wood; Vincent Timmerman; Thorsten Hornemann; Michaela Auer-Grumbach; Yesim Parman; Christian A Hübner; Miriam Elbracht; Katja Eggermann; C Geoffrey Woods; James J Cox; Mary M Reilly; Ingo Kurth
Journal:  Nat Rev Dis Primers       Date:  2022-06-16       Impact factor: 65.038
  1 in total

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