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

Neuroimaging in Hereditary Spastic Paraplegias: Current Use and Future Perspectives

(2019) Felipe Franco da Graça et al.   Frontiers in Neurology

Genetic mimics of cerebral palsy

(2019) Toni S. Pearson et al.   MOVEMENT DISORDERS

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

(2019) Robert Behne et al.   HUMAN MOLECULAR GENETICS

A novel homozygous AP4B1 mutation in two brothers with AP-4 deficiency syndrome and ocular anomalies

(2018) Andrea Accogli et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Cerebral palsy: not always what it seems

(2018) Richard E Appleton et al.   ARCHIVES OF DISEASE IN CHILDHOOD

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

(2017) Katharina Vill et al.   MOVEMENT DISORDERS

Congenital Disorders of Autophagy: What a Pediatric Neurologist Should Know

(2017) Darius Ebrahimi-Fakhari   NEUROPEDIATRICS

Amyloid precursor protein traffics from the Golgi directly to early endosomes in an Arl5b- and AP4-dependent pathway

(2017) Wei Hong Toh et al.   TRAFFIC

Genetic and phenotypic characterization of complex hereditary spastic paraplegia

(2016) Eleanna Kara et al.   BRAIN

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

(2016) A. Tessa et al.   EUROPEAN JOURNAL OF NEUROLOGY

A comprehensive global genotype-phenotype database for rare diseases

(2016) Daniel Trujillano et al.   Molecular Genetics & Genomic Medicine

Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism

(2015) Darius Ebrahimi-Fakhari et al.   BRAIN

Characterization of patients referred for non-specific intellectual disability testing: the importance of autosomal genes for diagnosis

(2015) C.A. Tan et al.   CLINICAL GENETICS

Structural and Perfusion Abnormalities of Brain on MRI and Technetium-99m-ECD SPECT in Children With Cerebral Palsy

(2015) Kamer Singh Rana et al.   JOURNAL OF CHILD NEUROLOGY

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease

(2015) Ender Karaca et al.   NEURON

Contiguous mutation syndrome in the era of high-throughput sequencing

(2015) Maéva Langouët et al.   Molecular Genetics & Genomic Medicine

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

Polymicrogyria: A common and heterogeneous malformation of cortical development

(2014) Chloe A. Stutterd et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

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

(2014) Viviana Pensato et al.   BRAIN

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

Treatable inborn errors of metabolism presenting as cerebral palsy mimics: systematic literature review

(2014) Emma L Leach et al.   Orphanet Journal of Rare Diseases

Polymicrogyria-associated epilepsy: A multicenter phenotypic study from the Epilepsy Phenome/Genome Project

(2013) Catherine Shain et al.   EPILEPSIA

Electrophysiological characterisation of motor and sensory tracts in patients with hereditary spastic paraplegia (HSP)

(2013) Kathrin N Karle et al.   Orphanet Journal of Rare Diseases

A Novel Homozygous p.R1105X Mutation of the AP4E1 Gene in Twins with Hereditary Spastic Paraplegia and Mycobacterial Disease

(2013) Xiao-Fei Kong et al.   PLoS One

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

Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients

(2010) Richard J. Leventer et al.   BRAIN

Sorting of the Alzheimer's Disease Amyloid Precursor Protein Mediated by the AP-4 Complex

(2010) Patricia V. Burgos et al.   DEVELOPMENTAL CELL

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

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

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

(2009) Helen V. Firth et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study

(2009) A. K. Erichsen et al.   BRAIN