Autosomal recessive spastic tetraplegia caused byAP4M1andAP4B1gene mutation: Expansion of the facial and neuroimaging features

AP-4: Auto-phagy 4 mislocalized proteins in axons

(2014) Shinji Matsuda et al.   Autophagy

Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47)

(2012) Peter Bauer et al.   NEUROGENETICS

Genetics of Hereditary Spastic Paraplegias

(2012) Rebecca Schüle et al.   SEMINARS IN NEUROLOGY

Adaptor Protein Complex 4 Deficiency Causes Severe Autosomal-Recessive Intellectual Disability, Progressive Spastic Paraplegia, Shy Character, and Short Stature

(2011) Rami Abou Jamra et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2011) Lubov Blumkin et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

(2011) Hossein Najmabadi et al.   NATURE

The Fifth Adaptor Protein Complex

(2011) Jennifer Hirst et al.   PLOS BIOLOGY

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

(2010) A. Moreno-De-Luca et al.   JOURNAL OF MEDICAL GENETICS

Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

(2010) Kaya Bilgüvar et al.   NATURE

Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy

(2010) Luis E. Kolb et al.   NEUROGENETICS

Mutation in the AP4M1 Gene Provides a Model for Neuroaxonal Injury in Cerebral Palsy

(2009) Annemieke J.M.H. Verkerk et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Polarized sorting of AMPA receptors to the somatodendritic domain is regulated by adaptor protein AP-4

(2009) Shinji Matsuda et al.   NEUROSCIENCE RESEARCH

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

(2009) Murim Choi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mapping short DNA sequencing reads and calling variants using mapping quality scores

(2008) H. Li et al.   GENOME RESEARCH

Accumulation of AMPA Receptors in Autophagosomes in Neuronal Axons Lacking Adaptor Protein AP-4

(2008) Shinji Matsuda et al.   NEURON