Disease: Micrencephaly olivopontocerebellar hypoplasia
- A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation
- A novel INPP4A mutation with pontocerebellar hypoplasia, myoclonic epilepsy, microcephaly, and severe developmental delay
- A patient with novel MBOAT7 variant: The cerebellar atrophy is progressive and displays a peculiar neurometabolic profile
- A patient with pontocerebellar hypoplasia type 6: Novel RARS2 mutations, comparison to previously published patients and clinical distinction from PEHO syndrome
- Brain morphometry in Pontocerebellar Hypoplasia type 2
- Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia
- Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia
- Congenital olivopontocerebellar atrophy: report of two siblings with paleo- and neocerebellar atrophy
- Congenital pontocerebellar atrophy in three patients: clinical, radiologic and etiologic considerations
- De novo variant in KIF26B is associated with pontocerebellar hypoplasia with infantile spinal muscular atrophy
- DeSanctis-Cacchione syndrome. A case report with autopsy findings
- Developmental patterns and neuropsychological assessment in patients with carbohydrate-deficient glycoconjugate syndrome type IA (phosphomannomutase deficiency)
- Early onset epileptic encephalopathy caused by mitochondrial arginyl-tRNA synthetase gene deficiency: report of two cases and literature review
- Evolution of EEG Findings in Pontocerebellar Hypoplasia Type 2A: Normal EEG in the First Few Months followed by Abnormal Tracing over the Years
- Fatal infantile encephalopathy with olivopontocerebellar hypoplasia and micrencephaly. Report of three siblings
- Fatal outcome in a case of pontocerebellar hypoplasia type 2
- Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2
- Human organoid model of pontocerebellar hypoplasia 2a recapitulates brain region-specific size differences
- Impairment of the tRNA-splicing endonuclease subunit 54 (tsen54) gene causes neurological abnormalities and larval death in zebrafish models of pontocerebellar hypoplasia
- Infantile onset progressive cerebellar atrophy and anterior horn cell degeneration--a late onset variant of PCH-1?
- Lethal olivopontoneocerebellar hypoplasia with dysmorphic features in sibs
- Long-Term Disease Course of Pontocerebellar Hypoplasia Type 10
- Loss of Piccolo Function in Rats Induces Cerebellar Network Dysfunction and Pontocerebellar Hypoplasia Type 3-like Phenotypes
- Molecular and neuroimaging findings in pontocerebellar hypoplasia type 2 (PCH2): is prenatal diagnosis possible?
- Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration
- Natural course of pontocerebellar hypoplasia type 2A
- Neurological presentation in pediatric patients with congenital disorders of glycosylation type Ia
- Novel homozygous RARS2 mutation in two siblings without pontocerebellar hypoplasia - further expansion of the phenotypic spectrum
- Novel mutations in TSEN54 in pontocerebellar hypoplasia type 2
- Pontocerebellar hypoplasia associated with nevoid hyperpigmentation and dysmorphic findings: a new subtype?
- Pontocerebellar hypoplasia associated with p.Arg183Trp homozygous variant in EXOSC1 gene: A case report
- Pontocerebellar hypoplasia associated with respiratory-chain defects
- Pontocerebellar hypoplasia in two siblings with dysmorphic features
- Pontocerebellar hypoplasia type 1 for the neuropediatrician: Genotype-phenotype correlations and diagnostic guidelines based on new cases and overview of the literature
- Pontocerebellar hypoplasia type 1: a case report
- Pontocerebellar hypoplasia type 2 (PCH2): report of two siblings
- Pontocerebellar hypoplasia type 2 and Reye-like syndrome
- Pontocerebellar hypoplasia type 2 and TSEN2: review of the literature and two novel mutations
- Pontocerebellar hypoplasia type 3 with tetralogy of Fallot
- Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients
- Pontocerebellar hypoplasias. An overview of a group of inherited neurodegenerative disorders with fetal onset
- Postnatal Brain Growth Patterns in Pontocerebellar Hypoplasia
- Recessive mutation in EXOSC3 associates with mitochondrial dysfunction and pontocerebellar hypoplasia
- Recurrent episodes of rhabdomyolysis in pontocerebellar hypoplasia type 2
- Rhabdomyolysis in pontocerebellar hypoplasia type 2 (PCH-2)
- Severe form of congenital cerebral and cerebellar atrophy: a neurodegenerative disorder of fetal onset
- Severe intellectual disability, absence of language, epilepsy, microcephaly and progressive cerebellar atrophy related to the recurrent de novo variant p.(P139L) of the CAMK2B gene: A case report and brief review
- Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient
- Subdural effusions and lack of early pontocerebellar hypoplasia in siblings with RARS2 mutations
- Three siblings of fatal infantile encephalopathy with olivopontocerebellar hypoplasia and microcephaly
- TSEN54 gene-related pontocerebellar hypoplasia type 2 presenting with exaggerated startle response: report of two cases in a family