Literature DB >> 28150420

A homozygous splice variant in AP4S1 mimicking neurodegeneration with brain iron accumulation.

Katharina Vill1, Wolfgang Müller-Felber1, Bader Alhaddad2, Tim M Strom2,3, Veronika Teusch4,5, Heike Weigand1, Astrid Blaschek1, Thomas Meitinger2,3, Tobias B Haack2,3.   

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Year:  2017        PMID： 28150420     DOI： 10.1002/mds.26922

Source DB:  PubMed          Journal:  Mov Disord        ISSN： 0885-3185            Impact factor:   10.338


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  6 in total

1.  Systematic Analysis of Brain MRI Findings in Adaptor Protein Complex 4-Associated Hereditary Spastic Paraplegia.

Authors:  Darius Ebrahimi-Fakhari; Julian E Alecu; Marvin Ziegler; Gregory Geisel; Catherine Jordan; Angelica D'Amore; Rebecca C Yeh; Shyam K Akula; Afshin Saffari; Sanjay P Prabhu; Mustafa Sahin; Edward Yang
Journal:  Neurology       Date:  2021-09-20       Impact factor: 9.910

2.  Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking.

Authors:  Robert Behne; Julian Teinert; Miriam Wimmer; Angelica D'Amore; Alexandra K Davies; Joseph M Scarrott; Kathrin Eberhardt; Barbara Brechmann; Ivy Pin-Fang Chen; Elizabeth D Buttermore; Lee Barrett; Sean Dwyer; Teresa Chen; Jennifer Hirst; Antje Wiesener; Devorah Segal; Andrea Martinuzzi; Sofia T Duarte; James T Bennett; Thomas Bourinaris; Henry Houlden; Agathe Roubertie; Filippo M Santorelli; Margaret Robinson; Mimoun Azzouz; Jonathan O Lipton; Georg H H Borner; Mustafa Sahin; Darius Ebrahimi-Fakhari
Journal:  Hum Mol Genet       Date:  2020-01-15       Impact factor: 6.150

3.  Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.

Authors:  Darius Ebrahimi-Fakhari; Julian Teinert; Robert Behne; Miriam Wimmer; Angelica D'Amore; Kathrin Eberhardt; Barbara Brechmann; Marvin Ziegler; Dana M Jensen; Premsai Nagabhyrava; Gregory Geisel; Erin Carmody; Uzma Shamshad; Kira A Dies; Christopher J Yuskaitis; Catherine L Salussolia; Daniel Ebrahimi-Fakhari; Toni S Pearson; Afshin Saffari; Andreas Ziegler; Stefan Kölker; Jens Volkmann; Antje Wiesener; David R Bearden; Shenela Lakhani; Devorah Segal; Anaita Udwadia-Hegde; Andrea Martinuzzi; Jennifer Hirst; Seth Perlman; Yoshihisa Takiyama; Georgia Xiromerisiou; Katharina Vill; William O Walker; Anju Shukla; Rachana Dubey Gupta; Niklas Dahl; Ayse Aksoy; Helene Verhelst; Mauricio R Delgado; Radka Kremlikova Pourova; Abdelrahim A Sadek; Nour M Elkhateeb; Lubov Blumkin; Alejandro J Brea-Fernández; David Dacruz-Álvarez; Thomas Smol; Jamal Ghoumid; Diego Miguel; Constanze Heine; Jan-Ulrich Schlump; Hendrik Langen; Jonathan Baets; Saskia Bulk; Hossein Darvish; Somayeh Bakhtiari; Michael C Kruer; Elizabeth Lim-Melia; Nur Aydinli; Yasemin Alanay; Omnia El-Rashidy; Sheela Nampoothiri; Chirag Patel; Christian Beetz; Peter Bauer; Grace Yoon; Mireille Guillot; Steven P Miller; Thomas Bourinaris; Henry Houlden; Laura Robelin; Mathieu Anheim; Abdullah S Alamri; Adel A H Mahmoud; Soroor Inaloo; Parham Habibzadeh; Mohammad Ali Faghihi; Anna C Jansen; Stefanie Brock; Agathe Roubertie; Basil T Darras; Pankaj B Agrawal; Filippo M Santorelli; Joseph Gleeson; Maha S Zaki; Sarah I Sheikh; James T Bennett; Mustafa Sahin
Journal:  Brain       Date:  2020-10-01       Impact factor: 15.255

4.  Loss of ap4s1 in zebrafish leads to neurodevelopmental defects resembling spastic paraplegia 52.

Authors:  Angelica D'Amore; Alessandra Tessa; Valentina Naef; Maria Teresa Bassi; Andrea Citterio; Romina Romaniello; Gianluca Fichi; Daniele Galatolo; Serena Mero; Roberta Battini; Giulia Bertocci; Jacopo Baldacci; Federico Sicca; Federica Gemignani; Ivana Ricca; Anna Rubegni; Jennifer Hirst; Maria Marchese; Mustafa Sahin; Darius Ebrahimi-Fakhari; Filippo M Santorelli
Journal:  Ann Clin Transl Neurol       Date:  2020-03-25       Impact factor: 4.511

5.  Magnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disorders.

Authors:  Shekeeb S Mohammad; Rajeshwar Reddy Angiti; Andrew Biggin; Hugo Morales-Briceño; Robert Goetti; Belen Perez-Dueñas; Allison Gregory; Penelope Hogarth; Joanne Ng; Apostolos Papandreou; Kaustuv Bhattacharya; Shamima Rahman; Kristina Prelog; Richard I Webster; Evangeline Wassmer; Susan Hayflick; John Livingston; Manju Kurian; W Kling Chong; Russell C Dale
Journal:  Brain Commun       Date:  2020-10-26

6.  Role of adaptin protein complexes in intracellular trafficking and their impact on diseases.

Authors:  Juhyun Shin; Arti Nile; Jae-Wook Oh
Journal:  Bioengineered       Date:  2021-12       Impact factor: 3.269
  6 in total

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