Identification of mutations inAP4S1/SPG52 through next generation sequencing in three families

Cerebral palsy: causes, pathways, and the role of genetic variants

(2015) Alastair H. MacLennan et al.   AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY

De novopoint mutations in patients diagnosed with ataxic cerebral palsy

(2015) Ricardo Parolin Schnekenberg et al.   BRAIN

Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology

(2015) Christelle Tesson et al.   HUMAN GENETICS

Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy

(2015) G McMichael et al.   MOLECULAR PSYCHIATRY

Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly

(2015) Katia Hardies et al.   HUMAN MOLECULAR GENETICS

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

Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48

(2014) Viviana Pensato et al.   BRAIN

‘When atlastin meets spastin’

(2014) R. Di Fabio et al.   CLINICAL GENETICS

Hereditary spastic paraplegia: Clinical-genetic characteristics and evolving molecular mechanisms

(2014) Temistocle Lo Giudice et al.   EXPERIMENTAL 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

Gait analysis may help to distinguish hereditary spastic paraplegia from cerebral palsy

(2011) Sebastian I. Wolf et al.   GAIT & POSTURE

Genetic Aspects of Cerebral Palsy

(2010) Imelda Hughes et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

3D gait analysis in patients with hereditary spastic paraparesis and spastic diplegia: A kinematic, kinetic and EMG comparison

(2010) Luigi Piccinini et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

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

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

(2009) Shinji Matsuda et al.   NEUROSCIENCE RESEARCH