Peter G. Barth
Amsterdam, NH, Netherlands
Last Updated: 09/26/2026
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Found 29 publications
Postnatal Brain Growth Patterns in Pontocerebellar Hypoplasia.
Journal: Neuropediatrics
Published: October 28, 2020
Understanding the life experience of Barth syndrome from the perspective of adults: a qualitative one-on-one interview study.
Journal: Orphanet journal of rare diseases
Published: June 19, 2019
What's new in pontocerebellar hypoplasia? An update on genes and subtypes.
Journal: Orphanet journal of rare diseases
Published: November 29, 2017
Pontocerebellar hypoplasia with spinal muscular atrophy (PCH1): identification of SLC25A46 mutations in the original Dutch PCH1 family.
Journal: Brain : a journal of neurology
Published: June 23, 2017
Deregulated expression of EZH2 in congenital brainstem disconnection.
Journal: Neuropathology and applied neurobiology
Published: May 12, 2016
A de novo missense mutation in the inositol 1,4,5-triphosphate receptor type 1 gene causing severe pontine and cerebellar hypoplasia: Expanding the phenotype of ITPR1-related spinocerebellar ataxia's.
Journal: American journal of medical genetics. Part A
Published: March 18, 2016
Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood.
Journal: Journal of inherited metabolic disease
Published: April 16, 2015
Mutation update: the spectra of nebulin variants and associated myopathies.
Journal: Human mutation
Published: June 14, 2014
Pontocerebellar hypoplasia.
Journal: American journal of medical genetics. Part C, Seminars in medical genetics
Published: June 14, 2014
Natural course of pontocerebellar hypoplasia type 2A.
Journal: Orphanet journal of rare diseases
Published: November 19, 2013
EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations.
Journal: Orphanet journal of rare diseases
Published: October 31, 2013
The neurology of rhizomelic chondrodysplasia punctata.
Journal: Orphanet journal of rare diseases
Published: June 25, 2013
Last Updated: 09/26/2026