Inventaire - 友達とコミュニティはあなたのベストな図書館です

AP4 deficiency: A novel form of neurodegeneration with brain iron accumulation?

著者

Rita Horvath

Majida Charif

Guy Lenaers

1962 -

この作品が含まれる作品: Neurology. Genetics

出版日: 2018-01-24

main subject: neurodegeneration with brain iron accumulation

Cites articles 19

Date

タイトル

著者

2017-05-02

Severe congenital microcephaly with AP4M1 mutation, a case report

Sarah Duerinckx, Marc Abramowicz, Isabelle Pirson
2017-06-14

Coexisting variants in OSTM1 and MANEAL cause a complex neurodegenerative disorder with NBIA-like brain abnormalities.
2016-05-23

Genetic and phenotypic characterization of complex hereditary spastic paraplegia

Eleanna Kara, Claudia Manzoni, Marilena Elpidorou, Conceicao Bettencourt, Viorica Chelban, Andreea Manole, Sherifa A Hamed, Alan Pittman, Zane Jaunmuktane, Christos Proukakis, Huw R Morris, Thomas Warner, Nicholas W. Wood, Patrick A. Lewis, Sarah Wiethoff, Georgia Xiromerisiou
2015-03-18

Contiguous mutation syndrome in the era of high-throughput sequencing

Nathalie Boddaert, Christine Bôle-Feysot, Patrick Nitschké, Karine Siquier-pernet, Laurence Colleaux, Jeanne Amiel, Arnold Munnich, Maéva Langouët
2015-05-08

Neurodegeneration with Brain Iron Accumulation: Genetic Diversity and Pathophysiological Mechanisms
2015-06-02

Review: Insights into molecular mechanisms of disease in neurodegeneration with brain iron accumulation: unifying theories

Charles Arber, Selina Wray
2014-12-14

A novel AP4M1 mutation in autosomal recessive cerebral palsy syndrome and clinical expansion of AP-4 deficiency

Joakim Klar, Shahid M Baig
2014-04-30

An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome

Kerstin Kutsche
2014-01-31

Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders

Alexis Brice, Hulya Kayserili, Kaya Bilguvar, Ahmed Bouhouche, Mahmoud Y Issa, Aslihan Tolun, Giovanni Stevanin, Alexandra Durr, Joseph G Gleeson, Trey Ideker, Matan Hofree, Tawfeg Ben-Omran, Sylvie Forlani, Naima Bouslam, Sylvain Hanein, Keith K Vaux
2014-04-03

Autosomal recessive spastic tetraplegia caused by AP4M1 and AP4B1 gene mutation: expansion of the facial and neuroimaging features
2013-07-30

Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms
2013-10

Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12

Stephan Züchner, Giovanni Stevanin, Leslie G Biesecker, Bryan Traynor, Fiorella Speziani, Wilson Marques Júnior, Marion Stoll, Craig Blackstone, Kenneth H. Fischbeck, Alexandra Durr, Hiroyuki Ishiura
2012-05-01

Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance

Michaela Auer-Grumbach, Wolfgang Löscher, Giovanni Stevanin
2011-06-10

Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature

Arnold Munnich, Rebecca Buchert, Laurence Colleaux, Markus M Nöthen, Rami Abou Jamra, Arif B. Ekici, André Reis, Orianne Philippe, Annick Raas-Rothschild
2011-09-21

Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

Hossein Najmabadi, Wei Chen, Farkhondeh Behjati, Vera M. Kalscheuer, Masoumeh Falah, Masoud Garshasbi, Stefan Haas, Reinhard Ullmann, Imma Rost, Bettina Lipkowitz, Luciana Musante, Tomasz Zemojtel, Anna Rajab
2011-03-25

A new locus (SPG47) maps to 1p13.2-1p12 in an Arabic family with complicated autosomal recessive hereditary spastic paraplegia and thin corpus callosum.

Tally Lerman-Sagie, Esther Leshinsky-Silver, Dorit Lev
2010-10-23

Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability

Andres Moreno-De-Luca, Christa Lese Martin, David H. Ledbetter
2009-06-25

Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy
2002-02

AP-4 binds basolateral signals and participates in basolateral sorting in epithelial MDCK cells

Ritva Tikkanen, Walter Hunziker

記事 - wd:Q50229936

Welcome to Inventaire

友達やコミュニティの図書館

もっと調べる