• A Chemical Biology Approach to Model Pontocerebellar Hypoplasia Type 1B (PCH1B)
• A combination of chorea, myoclonus, and dystonia in a patient with pontocerebellar hypoplasia type 2: a video case presentation
• A de novo CASK mutation in pontocerebellar hypoplasia type 3 with early myoclonic epilepsy and tetralogy of Fallot
• A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation
• A Neonate with a Diagnosis of Pontocerebellar Hypoplasia Type 6 Treated with Biotin and Developed Biotin Interference with Laboratory Thyroid Function Tests
• A New Patient With Intermediate Severe Salla Disease With Hypomyelination: A Literature Review for Salla Disease
• A non-coding variant in the Kozak sequence of RARS2 strongly decreases protein levels and causes pontocerebellar hypoplasia
• 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
• A pedigree with olivopontocerebellar atrophy
• Affective disorder associated with pontocerebellar hypoplasia
• AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder
• Analysis of genetic variant in a fetus featuring pontocerebellar hypoplasia type 6
• Autosomal recessive heterocygote mutation of the RARS2 gene in a colombian patient with non- consanguineous parents
• Brain morphometry in Pontocerebellar Hypoplasia type 2
• Case of anti-TPO/gliadin antibody-positive cerebellar atrophy that responded to intravenous immunoglobulin therapy begun 16 years after onset
• Case of olivopontocerebellar atrophy
• Characteristic diffusion tensor tractography in multiple system atrophy with predominant cerebellar ataxia and cortical cerebellar atrophy
• Clinical and genetic analysis of infants with pontocerebellar hypoplasia type 6 caused by RARS2 variations
• Common Variants Near ZIC1 and ZIC4 in Autopsy-Confirmed Multiple System Atrophy
• Converging Patterns of α-Synuclein Pathology in Multiple System Atrophy
• Corticobasal degeneration with olivopontocerebellar atrophy and TDP-43 pathology: an unusual clinicopathologic variant of CBD
• De novo variant in KIF26B is associated with pontocerebellar hypoplasia with infantile spinal muscular atrophy
• Degeneration of olivospinal tract in the upper cervical spinal cord of multiple system atrophy patients: Reappraisal of Helweg's triangular tract
• Delayed but nonetheless characteristic: the clinical manifestation of hypertrophic degeneration of the olivary nucleus
• Differentiating Genetic Forms of Pontocerebellar Hypoplasia From Acquired Lesions Resembling Pontocerebellar Hypoplasia: Clinical, Neurodevelopmental, and Imaging Insight From 19 Extremely Premature Patients
• Dystonia in ATP2B3-associated X-linked spinocerebellar ataxia
• Early decrease in intermediate monocytes in peripheral blood is characteristic of multiple system atrophy-cerebellar type
• Early onset epileptic encephalopathy caused by mitochondrial arginyl-tRNA synthetase gene deficiency: report of two cases and literature review
• Effects of cerebellar transcranial magnetic stimulation on ataxias: A randomized trial
• Effects of olivo-ponto-cerebellar atrophy (OPCA) on finger interaction and coordination
• Evolution of EEG Findings in Pontocerebellar Hypoplasia Type 2A: Normal EEG in the First Few Months followed by Abnormal Tracing over the Years
• Examining the effects of amplitude-based training as a component of the plan of care in an individual with olivopontocerebellar atrophy
• EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations
• Expanded PCH1D phenotype linked to EXOSC9 mutation
• Extension of the phenotype of biallelic loss-of-function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I
• Generation of induced pluripotent stem cells from skin fibroblasts of a patient with olivopontocerebellar atrophy
• Homovanillic acid in cerebrospinal fluid of 1388 children with neurological disorders
• Homozygous EXOSC3 mutation c.92G→C, p.G31A is a founder mutation causing severe pontocerebellar hypoplasia type 1 among the Czech Roma
• Human organoid model of pontocerebellar hypoplasia 2a recapitulates brain region-specific size differences
• Hypertrophic olivary degeneration following cerebral trauma managed with rehabilitation - A case report
• Hypertrophic Olivary Degeneration Following Listerial Rhombencephalitis
• Immunohistochemical and Molecular Investigations Show Alteration in the Inflammatory Profile of Multiple System Atrophy Brain
• 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
• Making sense of genetic heterogeneity: Emergence of pathways in developmental brain disorders
• Massive and exclusive pontocerebellar damage in mitochondrial disease and NUBPL mutations
• Milder progressive cerebellar atrophy caused by biallelic SEPSECS mutations
• MSA: From basic mechanisms to experimental therapeutics
• Multiple system atrophy: Building a global community - 30years of advocacy efforts
• Multisemic atrophy: a description of the clinical case of olivopontocerebellar atrophy against the background of stenosing atherosclerotic vascular lesions
• Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration
• Mutations of EXOSC3/Rrp40p associated with neurological diseases impact ribosomal RNA processing functions of the exosome in <em>S. cerevisiae</em>
• Narcolepsy is a common phenotype in HSAN IE and ADCA-DN
• Natural course of pontocerebellar hypoplasia type 2A
• Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations
• Neuropathologic features of pontocerebellar hypoplasia type 6
• New Radiologic Findings of Hypertrophic Olivary Degeneration in 2 Patients with Brainstem Lymphoma
• New subtype of PCH1C caused by novel EXOSC8 variants in a 16-year-old Spanish patient
• Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy
• Novel homozygous RARS2 mutation in two siblings without pontocerebellar hypoplasia - further expansion of the phenotypic spectrum
• Novel mutations in SCO1 as a cause of fatal infantile encephalopathy and lactic acidosis
• Novel mutations in TSEN54 in pontocerebellar hypoplasia type 2
• Novel RARS2 Variants: Updating the Diagnosis and Pathogenesis of Pontocerebellar Hypoplasia Type 6
• PolyQ Database-an integrated database on polyglutamine diseases
• 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 in extreme prematurity: clinical and neuroimaging findings
• Pontocerebellar hypoplasia is a rare cause of floppy infant syndrome
• 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: clinical spectrum and relevance of EXOSC3 mutations
• Pontocerebellar hypoplasia type 2 and TSEN2: review of the literature and two novel mutations
• Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients
• Pontocerebellar hypoplasia type-9 due to a novel p.Arg503Ter truncating variant in AMPD2: a report from India
• Postnatal Brain Growth Patterns in Pontocerebellar Hypoplasia
• Progression of subcortical atrophy and iron deposition in multiple system atrophy: a comparison between clinical subtypes
• Psychosis in a patient with probable multiple system atrophy of cerebellar type
• Recessive mutation in EXOSC3 associates with mitochondrial dysfunction and pontocerebellar hypoplasia
• Recurrent episodes of rhabdomyolysis in pontocerebellar hypoplasia type 2
• Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study
• Sarcomeric disorganization and nemaline bodies in muscle biopsies of patients with EXOSC3-related type 1 pontocerebellar hypoplasia
• 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
• Somatic SNCA Copy Number Variants in Multiple System Atrophy are Related to Pathology and Inclusions
• Spasmodic Abdominal Pain and Other Gastrointestinal Symptoms in Pontocerebellar Hypoplasia Type 2
• 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
• Targeted carrier screening for four recessive disorders: high detection rate within a founder population
• Teaching Video NeuroImages: Palatal tremor associated with <em>SPG7</em> variants
• The effect of genetic background on behavioral manifestation of Grid2(Lc) mutation
• The impact of severe rare chronic neurological disease in childhood on the quality of life of families-a study on MLD and PCH2
• The Use of FDG PET Parametric Imaging in the Diagnosis of Olivopontocerebellar Atrophy
• The very low density lipoprotein receptor-associated pontocerebellar hypoplasia and dysmorphic features in three Turkish patients
• Three human aminoacyl-tRNA synthetases have distinct sub-mitochondrial localizations that are unaffected by disease-associated mutations
• TSEN54 gene-related pontocerebellar hypoplasia type 2 presenting with exaggerated startle response: report of two cases in a family
• TSEN54 Gene-Related Pontocerebellar-Hypoplasia and Role of Prenatal MR Imaging: Besides the Common Posterior Fossa Cystic Malformations
• Unilateral Symptomatic Hypertrophic Olivary Degeneration Secondary to Midline Brainstem Cavernous Angioma: A Case Report and Review of the Literature
• Whole exome sequencing diagnoses the first fetal case of Bainbridge-Ropers syndrome presenting as pontocerebellar hypoplasia type 1
• Widespread alternative splicing dysregulation occurs presymptomatically in CAG expansion spinocerebellar ataxias
• XY sex reversal, pontocerebellar hypoplasia and intellectual disability: confirmation of a new syndrome