Literature DB >> 21210780

A novel syndromic form of sensory-motor polyneuropathy is linked to chromosome 22q13.31-q13.33.

S Bohlega, A M Alazami, E Cupler, H Al-Hindi, E Ibrahim, F S Alkuraya.   

Abstract

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Year:  2011        PMID： 21210780     DOI： 10.1111/j.1399-0004.2010.01524.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  3 in total

Review 1.  Discovery of mutations for Mendelian disorders.

Authors:  Fowzan S Alkuraya
Journal:  Hum Genet       Date:  2016-04-11       Impact factor: 4.132

2.  SBF1 mutations associated with autosomal recessive axonal neuropathy with cranial nerve involvement.

Authors:  Andreea Manole; Alejandro Horga; Josep Gamez; Nuria Raguer; Maria Salvado; Beatriz San Millán; Carmen Navarro; Alan Pittmann; Mary M Reilly; Henry Houlden
Journal:  Neurogenetics       Date:  2016-12-22       Impact factor: 2.660

3.  A novel frameshift deletion in autosomal recessive SBF1-related syndromic neuropathy with necklace fibres.

Authors:  Qiang Gang; Conceição Bettencourt; Janice Holton; Christopher Lovejoy; Viorica Chelban; Emer Oconnor; Yun Yuan; Mary M Reilly; Michael Hanna; Henry Houlden
Journal:  J Neurol       Date:  2020-05-22       Impact factor: 4.849
  3 in total

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