Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

BMC medical genetics - 14 Dec 2014

Jameel Muhammad, Klar Joakim, Tariq Muhammad, Moawia Abubakar, Altaf Malik Naveed, Seema Waseem Syeda, Abdullah Uzma, Naeem Khan Tahir, Raininko Raili, Baig Shahid Mahmood, Dahl Niklas

Abstract excerpt

BACKGROUND: Cerebral palsy (CP) is a heterogeneous neurodevelopmental disorder associated with intellectual disability in one-third of cases. Recent findings support Mendelian inheritance in subgroups of patients with the disease. The purpose of this study was to identify a novel genetic cause of paraplegic CP with intellectual disability in a consanguineous Pakistani family. METHODS: We performed whole-exome...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Basic Helix-Loop-Helix Leucine Zipper Transcription Factors
Share to Cerebral Palsy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Consanguinity

Share to Genes, Recessive

Share to Homozygote

Share to Intellectual Disability

Share to Magnetic Resonance Imaging

Share to RNA-Binding Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 25496299
DOI: 10.1186/s12881-014-0133-2
PMCID: PMC4292821

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel AP4M1 mutation in autosomal recessive cerebral palsy syndrome and clinical expansion of AP-4 deficiency.PMID 25496299Read ↗

Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families.Semantic proximity Read ↗

A novel homozygous AP4B1 mutation in two brothers with AP-4 deficiency syndrome and ocular anomalies.Semantic proximity Read ↗

Autosomal recessive spastic tetraplegia caused by AP4M1 and AP4B1 gene mutation: expansion of the facial and neuroimaging features.Semantic proximity Read ↗

Case report: Compound heterozygous mutations in AP4M1 gene identified in a Chinese infant with Infantile Spasms and Global developmental delaySemantic proximity Read ↗

Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia.Semantic proximity Read ↗

Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent Stuttering.Semantic proximity Read ↗

Cerebral palsy and related neuromotor disorders: Overview of genetic and genomic studies.Semantic proximity Read ↗

Utilizing RNA and outlier analysis to identify an intronic splice-altering variant in AP4S1 in a sibling pair with progressive spastic paraplegia.Semantic proximity Read ↗

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

A Novel MAG Variant Causes Hereditary Spastic Paraplegia in a Consanguineous Pakistani Family.Semantic proximity Read ↗

Novel variants in AP4B1 cause spastic tetraplegia, moderate psychomotor development delay and febrile seizures in a Chinese patient: a case report.Semantic proximity Read ↗

Comprehensive genotype-phenotype correlation in AP-4 deficiency syndrome; Adding data from a large cohort of Iranian patients.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.