Literature DB >> 24799518

SET binding factor 1 (SBF1) mutation causes Charcot-Marie-tooth disease type 4B3.

Anas M Alazami1, Fatema Alzahrani, Saeed Bohlega, Fowzan S Alkuraya.   

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Year:  2014        PMID： 24799518     DOI： 10.1212/WNL.0000000000000331

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  9 in total

Review 1.  Discovery of mutations for Mendelian disorders.

Authors:  Fowzan S Alkuraya
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2.  Olfactory Neuroepithelium Cells from Cannabis Users Display Alterations to the Cytoskeleton and to Markers of Adhesion, Proliferation and Apoptosis.

Authors:  Alejandra Delgado-Sequera; María Hidalgo-Figueroa; Marta Barrera-Conde; Mª Carmen Duran-Ruiz; Carmen Castro; Cristina Fernández-Avilés; Rafael de la Torre; Ismael Sánchez-Gomar; Víctor Pérez; Noelia Geribaldi-Doldán; Patricia Robledo; Esther Berrocoso
Journal:  Mol Neurobiol       Date:  2020-11-25       Impact factor: 5.590

3.  Distinct roles for the Charcot-Marie-Tooth disease-causing endosomal regulators Mtmr5 and Mtmr13 in axon radial sorting and Schwann cell myelination.

Authors:  Anna E Mammel; Katherine C Delgado; Andrea L Chin; Alec F Condon; Jo Q Hill; Sue A Aicher; Yingming Wang; Lev M Fedorov; Fred L Robinson
Journal:  Hum Mol Genet       Date:  2022-04-22       Impact factor: 5.121

4.  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

5.  A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs).

Authors:  Davide Pareyson; Tanya Stojkovic; Mary M Reilly; Sarah Leonard-Louis; Matilde Laurà; Julian Blake; Yesim Parman; Esra Battaloglu; Meriem Tazir; Mounia Bellatache; Nathalie Bonello-Palot; Nicolas Lévy; Sabrina Sacconi; Raquel Guimarães-Costa; Sharham Attarian; Philippe Latour; Guilhem Solé; André Megarbane; Rita Horvath; Giulia Ricci; Byung-Ok Choi; Angelo Schenone; Chiara Gemelli; Alessandro Geroldi; Mario Sabatelli; Marco Luigetti; Lucio Santoro; Fiore Manganelli; Aldo Quattrone; Paola Valentino; Tatsufumi Murakami; Steven S Scherer; Lois Dankwa; Michael E Shy; Chelsea J Bacon; David N Herrmann; Alberto Zambon; Irene Tramacere; Chiara Pisciotta; Stefania Magri; Stefano C Previtali; Alessandra Bolino
Journal:  Ann Neurol       Date:  2019-05-27       Impact factor: 11.274

6.  Genetics and genomic medicine in Saudi Arabia.

Authors:  Fowzan S Alkuraya
Journal:  Mol Genet Genomic Med       Date:  2014-07-30       Impact factor: 2.183

7.  "Fork and bracket" syndrome expands the spectrum of SBF1-related sensory motor polyneuropathies.

Authors:  Marta Romani; Cybel Mehawej; Tommaso Mazza; Andre Mégarbané; Enza Maria Valente
Journal:  Neurol Genet       Date:  2016-03-03

8.  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

9.  Bi-allelic variants in MTMR5/SBF1 cause Charcot-Marie-Tooth type 4B3 featuring mitochondrial dysfunction.

Authors:  Beatrice Berti; Giovanna Longo; Francesco Mari; Stefano Doccini; Ilaria Piccolo; Maria Alice Donati; Francesca Moro; Renzo Guerrini; Filippo M Santorelli; Vittoria Petruzzella
Journal:  BMC Med Genomics       Date:  2021-06-12       Impact factor: 3.063
  9 in total

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