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

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

(2014) Beyhan Tüysüz et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation

(2014) Tahir Naeem Khan et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Incomplete nonsense-mediated decay facilitates detection of a multi-exonic deletion mutation inSGCE

(2012) J Xiao et al.   CLINICAL GENETICS

Adaptor Protein Complexes AP-4 and AP-5: New Players in Endosomal Trafficking and Progressive Spastic Paraplegia

(2012) Jennifer Hirst et al.   TRAFFIC

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

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

(2011) Hossein Najmabadi et al.   NATURE

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

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

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

Quantitative sequence analysis ofFBN1premature termination codons provides evidence for incomplete NMD in leukocytes

(2009) István Magyar et al.   HUMAN MUTATION

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

(2009) Shinji Matsuda et al.   NEUROSCIENCE RESEARCH

Cerebral Palsy: Classification and Epidemiology

(2009) Amy Thornhill Pakula et al.   Physical Medicine and Rehabilitation Clinics of North America

A systematic review of the role of intrapartum hypoxia-ischemia in the causation of neonatal encephalopathy

(2008) Ernest M. Graham et al.   AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY

Cerebral palsy and congenital malformations

(2008) Ester Garne et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY