Literature DB >> 24327336

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

Elif Ilgaz Aydinlar1, Arndt Rolfs, Mustafa Serteser, Yesim Parman.   

Abstract

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Year:  2014        PMID： 24327336     DOI： 10.1002/mus.24145

Source DB:  PubMed          Journal:  Muscle Nerve        ISSN： 0148-639X            Impact factor:   3.217


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  22 in total

1.  Novel FAM134B mutations and their clinicopathological significance in colorectal cancer.

Authors:  Farhadul Islam; Vinod Gopalan; Riajul Wahab; Katherine Ting-Wei Lee; Md Hakimul Haque; Afraa Mamoori; Cu-Tai Lu; Robert A Smith; Alfred K-Y Lam
Journal:  Hum Genet       Date:  2017-01-31       Impact factor: 4.132

Review 2.  Hereditary Spastic Paraplegia: Clinical and Genetic Hallmarks.

Authors:  Paulo Victor Sgobbi de Souza; Wladimir Bocca Vieira de Rezende Pinto; Gabriel Novaes de Rezende Batistella; Thiago Bortholin; Acary Souza Bulle Oliveira
Journal:  Cerebellum       Date:  2017-04       Impact factor: 3.847

3.  Office-Based Anesthetic and Oral Surgical Management of a Child With Hereditary Sensory Autonomic Neuropathy Type IV: A Case Report.

Authors:  Shamit Prabhu; Kevin Fortier; Lisa Newsome; Uday N Reebye
Journal:  Anesth Prog       Date:  2018

Review 4.  ER-phagy and human diseases.

Authors:  Christian A Hübner; Ivan Dikic
Journal:  Cell Death Differ       Date:  2019-10-28       Impact factor: 15.828

Review 5.  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

6.  RETREG1/FAM134B mediated autophagosomal degradation of AMFR/GP78 and OPA1 -a dual organellar turnover mechanism.

Authors:  Debdatto Mookherjee; Subhrangshu Das; Rukmini Mukherjee; Manindra Bera; Swadhin Chandra Jana; Saikat Chakrabarti; Oishee Chakrabarti
Journal:  Autophagy       Date:  2020-07-01       Impact factor: 16.016

7.  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.

Authors:  Ze-Yu Luo; Hui-Jun Wang; Yu-Kun Zhao; Juan-Hua Liu; Ying-Ming Chen; Zhi-Miao Lin; Di-Qing Luo
Journal:  Indian J Dermatol Venereol Leprol       Date:  2021 May-Jun       Impact factor: 2.545

Review 8.  The Regulatory Role of Reticulons in Neurodegeneration: Insights Underpinning Therapeutic Potential for Neurodegenerative Diseases.

Authors:  Lilesh Kumar Pradhan; Saroj Kumar Das
Journal:  Cell Mol Neurobiol       Date:  2020-06-05       Impact factor: 5.046

9.  Novel RETREG1 (FAM134B) founder allele is linked to HSAN2B and renal disease in a Turkish family.

Authors:  Elifcan Taşdelen; Daniel G Calame; Gulsen Akay; Tadahiro Mitani; Jawid M Fatih; Isabella Herman; Haowei Du; Zeynep Coban-Akdemir; Dana Marafi; Shalini N Jhangiani; Jennifer E Posey; Richard A Gibbs; Taylan Altıparmak; Nüket Yürür Kutlay; James R Lupski; Davut Pehlivan
Journal:  Am J Med Genet A       Date:  2022-03-24       Impact factor: 2.578

10.  Integrating protein networks and machine learning for disease stratification in the Hereditary Spastic Paraplegias.

Authors:  Nikoleta Vavouraki; James E Tomkins; Eleanna Kara; Henry Houlden; John Hardy; Marcus J Tindall; Patrick A Lewis; Claudia Manzoni
Journal:  iScience       Date:  2021-04-28
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