Literature DB >> 29795474

Between SCA5 and SCAR14: delineation of the SPTBN2 p.R480W-associated phenotype.

Sara Nuovo1,2, Alessia Micalizzi1, Stefano D'Arrigo3, Monia Ginevrino1,4, Tommaso Biagini5, Tommaso Mazza5, Enza Maria Valente6,7.   

Abstract

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Year:  2018        PMID： 29795474      PMCID： PMC6018709          DOI： 10.1038/s41431-018-0158-7

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  10 in total

1.  Progressive SCAR14 with unclear speech, developmental delay, tremor, and behavioral problems caused by a homozygous deletion of the SPTBN2 pleckstrin homology domain.

Authors:  Esra Yıldız Bölükbaşı; Muhammad Afzal; Sara Mumtaz; Nafees Ahmad; Sajid Malik; Aslıhan Tolun
Journal:  Am J Med Genet A       Date:  2017-06-21       Impact factor: 2.802

2.  A Japanese SCA5 family with a novel three-nucleotide in-frame deletion mutation in the SPTBN2 gene: a clinical and genetic study.

Authors:  Ying Wang; Kishin Koh; Michiaki Miwa; Nobuo Yamashiro; Kazumasa Shindo; Yoshihisa Takiyama
Journal:  J Hum Genet       Date:  2014-08-21       Impact factor: 3.172

3.  Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations.

Authors:  Solaf M Elsayed; Raoul Heller; Michaela Thoenes; Maha S Zaki; Daniel Swan; Ezzat Elsobky; Christine Zühlke; Inga Ebermann; Gudrun Nürnberg; Peter Nürnberg; Hanno J Bolz
Journal:  Eur J Hum Genet       Date:  2013-07-10       Impact factor: 4.246

4.  Spectrin mutations cause spinocerebellar ataxia type 5.

Authors:  Yoshio Ikeda; Katherine A Dick; Marcy R Weatherspoon; Dan Gincel; Karen R Armbrust; Joline C Dalton; Giovanni Stevanin; Alexandra Dürr; Christine Zühlke; Katrin Bürk; H Brent Clark; Alexis Brice; Jeffrey D Rothstein; Lawrence J Schut; John W Day; Laura P W Ranum
Journal:  Nat Genet       Date:  2006-01-22       Impact factor: 38.330

5.  A family with spinocerebellar ataxia type 5 found to have a novel missense mutation within a SPTBN2 spectrin repeat.

Authors:  Ellen Cho; Brent L Fogel
Journal:  Cerebellum       Date:  2013-04       Impact factor: 3.847

6.  Case of infantile onset spinocerebellar ataxia type 5.

Authors:  Francois-Dominique Jacob; Eugenia S Ho; Mayra Martinez-Ojeda; Basil T Darras; Omar S Khwaja
Journal:  J Child Neurol       Date:  2012-08-21       Impact factor: 1.987

Review 7.  A Novel Homozygous Mutation in SPTBN2 Leads to Spinocerebellar Ataxia in a Consanguineous Family: Report of a New Infantile-Onset Case and Brief Review of the Literature.

Authors:  Mohammad A Al-Muhaizea; Faten AlMutairi; Rawan Almass; Safinaz AlHarthi; Mazhor S Aldosary; Maysoon Alsagob; Ali AlOdaib; Dilek Colak; Namik Kaya
Journal:  Cerebellum       Date:  2018-06       Impact factor: 3.847

8.  Recessive mutations in SPTBN2 implicate β-III spectrin in both cognitive and motor development.

Authors:  Stefano Lise; Yvonne Clarkson; Emma Perkins; Alexandra Kwasniewska; Elham Sadighi Akha; Ricardo Parolin Schnekenberg; Daumante Suminaite; Jilly Hope; Ian Baker; Lorna Gregory; Angie Green; Chris Allan; Sarah Lamble; Sandeep Jayawant; Gerardine Quaghebeur; M Zameel Cader; Sarah Hughes; Richard J E Armstrong; Alexander Kanapin; Andrew Rimmer; Gerton Lunter; Iain Mathieson; Jean-Baptiste Cazier; David Buck; Jenny C Taylor; David Bentley; Gilean McVean; Peter Donnelly; Samantha J L Knight; Mandy Jackson; Jiannis Ragoussis; Andrea H Németh
Journal:  PLoS Genet       Date:  2012-12-06       Impact factor: 5.917

9.  The FoldX web server: an online force field.

Authors:  Joost Schymkowitz; Jesper Borg; Francois Stricher; Robby Nys; Frederic Rousseau; Luis Serrano
Journal:  Nucleic Acids Res       Date:  2005-07-01       Impact factor: 16.971

10.  De novo point mutations in patients diagnosed with ataxic cerebral palsy.

Authors:  Ricardo Parolin Schnekenberg; Emma M Perkins; Jack W Miller; Wayne I L Davies; Maria Cristina D'Adamo; Mauro Pessia; Katherine A Fawcett; David Sims; Elodie Gillard; Karl Hudspith; Paul Skehel; Jonathan Williams; Mary O'Regan; Sandeep Jayawant; Rosalind Jefferson; Sarah Hughes; Andrea Lustenberger; Jiannis Ragoussis; Mandy Jackson; Stephen J Tucker; Andrea H Németh
Journal:  Brain       Date:  2015-05-16       Impact factor: 13.501
  10 in total
  6 in total

1.  Reply to "Between SCA5 and SCAR14: delineation of the SPTBN2 p.R480W-associated phenotype" by Nuovo et al.

Authors:  Hanno J Bolz
Journal:  Eur J Hum Genet       Date:  2018-05-25       Impact factor: 4.246

2.  Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data.

Authors:  Stuart Aitken; Helen V Firth; Jeremy McRae; Mihail Halachev; Usha Kini; Michael J Parker; Melissa M Lees; Katherine Lachlan; Ajoy Sarkar; Shelagh Joss; Miranda Splitt; Shane McKee; Andrea H Németh; Richard H Scott; Caroline F Wright; Joseph A Marsh; Matthew E Hurles; David R FitzPatrick
Journal:  Am J Hum Genet       Date:  2019-10-10       Impact factor: 11.025

3.  Infantile Onset of Spinocerebellar Ataxia Type 5 (SCA-5) in a 6 Month Old with Ataxic Cerebral Palsy.

Authors:  Gillian Rea; Sandya Tirupathi; Jonathan Williams; Penny Clouston; Patrick J Morrison
Journal:  Cerebellum       Date:  2020-02       Impact factor: 3.847

4.  Novel SPTBN2 gene mutation and first intragenic deletion in early onset spinocerebellar ataxia type 5.

Authors:  Romina Romaniello; Andrea Citterio; Elena Panzeri; Filippo Arrigoni; Marta De Rinaldis; Antonio Trabacca; Maria Teresa Bassi
Journal:  Ann Clin Transl Neurol       Date:  2021-03-23       Impact factor: 4.511

Review 5.  Spinocerebellar ataxias (SCAs) caused by common mutations.

Authors:  Ulrich Müller
Journal:  Neurogenetics       Date:  2021-08-16       Impact factor: 2.660

6.  Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.

Authors:  Margot A Cousin; Blake A Creighton; Keith A Breau; Rebecca C Spillmann; Erin Torti; Sruthi Dontu; Swarnendu Tripathi; Deepa Ajit; Reginald J Edwards; Simone Afriyie; Julia C Bay; Kathryn M Harper; Alvaro A Beltran; Lorena J Munoz; Liset Falcon Rodriguez; Michael C Stankewich; Richard E Person; Yue Si; Elizabeth A Normand; Amy Blevins; Alison S May; Louise Bier; Vimla Aggarwal; Grazia M S Mancini; Marjon A van Slegtenhorst; Kirsten Cremer; Jessica Becker; Hartmut Engels; Stefan Aretz; Jennifer J MacKenzie; Eva Brilstra; Koen L I van Gassen; Richard H van Jaarsveld; Renske Oegema; Gretchen M Parsons; Paul Mark; Ingo Helbig; Sarah E McKeown; Robert Stratton; Benjamin Cogne; Bertrand Isidor; Pilar Cacheiro; Damian Smedley; Helen V Firth; Tatjana Bierhals; Katja Kloth; Deike Weiss; Cecilia Fairley; Joseph T Shieh; Amy Kritzer; Parul Jayakar; Evangeline Kurtz-Nelson; Raphael A Bernier; Tianyun Wang; Evan E Eichler; Ingrid M B H van de Laar; Allyn McConkie-Rosell; Marie T McDonald; Jennifer Kemppainen; Brendan C Lanpher; Laura E Schultz-Rogers; Lauren B Gunderson; Pavel N Pichurin; Grace Yoon; Michael Zech; Robert Jech; Juliane Winkelmann; Adriana S Beltran; Michael T Zimmermann; Brenda Temple; Sheryl S Moy; Eric W Klee; Queenie K-G Tan; Damaris N Lorenzo
Journal:  Nat Genet       Date:  2021-07-01       Impact factor: 41.307
  6 in total

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