Autonomous Purkinje cell axonal dystrophy causes ataxia in peroxisomal multifunctional protein-2 deficiency
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Title
Autonomous Purkinje cell axonal dystrophy causes ataxia in peroxisomal multifunctional protein-2 deficiency
Authors
Keywords
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Journal
BRAIN PATHOLOGY
Volume -, Issue -, Pages -
Publisher
Wiley
Online
2018-01-17
DOI
10.1111/bpa.12586
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Related references
Note: Only part of the references are listed.- Early-onset Purkinje cell dysfunction underlies cerebellar ataxia in peroxisomal multifunctional protein-2 deficiency
- (2016) Stephanie De Munter et al. NEUROBIOLOGY OF DISEASE
- Peroxisomal Disorders: A Review on Cerebellar Pathologies
- (2015) Stephanie De Munter et al. BRAIN PATHOLOGY
- Identification of a chronic non-neurodegenerative microglia activation state in a mouse model of peroxisomal β-oxidation deficiency
- (2015) Simon Verheijden et al. GLIA
- Redefining the cerebellar cortex as an assembly of non-uniform Purkinje cell microcircuits
- (2015) Nadia L. Cerminara et al. NATURE REVIEWS NEUROSCIENCE
- Autophagy induction halts axonal degeneration in a mouse model of X-adrenoleukodystrophy
- (2014) Nathalie Launay et al. ACTA NEUROPATHOLOGICA
- Next generation sequencing with copy number variant detection expands the phenotypic spectrum of HSD17B4-deficiency
- (2014) Daniel S Lieber et al. BMC Medical Genetics
- Peripheral nervous system plasmalogens regulate Schwann cell differentiation and myelination
- (2014) Tiago Ferreira da Silva et al. JOURNAL OF CLINICAL INVESTIGATION
- Peroxisomal D-bifunctional protein deficiency: Three adults diagnosed by whole-exome sequencing
- (2014) M. A. Lines et al. NEUROLOGY
- Detailed Expression Pattern of Aldolase C (Aldoc) in the Cerebellum, Retina and Other Areas of the CNS Studied in Aldoc-Venus Knock-In Mice
- (2014) Hirofumi Fujita et al. PLoS One
- Peroxisomal multifunctional protein-2 deficiency causes neuroinflammation and degeneration of Purkinje cells independent of very long chain fatty acid accumulation
- (2013) Simon Verheijden et al. NEUROBIOLOGY OF DISEASE
- Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency
- (2013) Hugh J McMillan et al. Orphanet Journal of Rare Diseases
- MRI as diagnostic tool in early-onset peroxisomal disorders
- (2012) M.S. van der Knaap et al. NEUROLOGY
- X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management
- (2012) Marc Engelen et al. Orphanet Journal of Rare Diseases
- X-linked Angelman-like syndrome caused by Slc9a6 knockout in mice exhibits evidence of endosomal–lysosomal dysfunction
- (2011) Petter Strømme et al. BRAIN
- Mutations in the DBP-Deficiency Protein HSD17B4 Cause Ovarian Dysgenesis, Hearing Loss, and Ataxia of Perrault Syndrome
- (2010) Sarah B. Pierce et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mechanisms of Compartmental Purkinje Cell Death and Survival in the Lurcher Mutant Mouse
- (2010) Carol L. Armstrong et al. CEREBELLUM
- Biochemistry and genetics of inherited disorders of peroxisomal fatty acid metabolism
- (2010) Paul P. Van Veldhoven JOURNAL OF LIPID RESEARCH
- Combined deficiency of peroxisomal β-oxidation and ether lipid synthesis in mice causes only minor cortical neuronal migration defects but severe hypotonia
- (2010) Olga Krysko et al. MOLECULAR GENETICS AND METABOLISM
- Heat shock protein 25 expression and preferential Purkinje cell survival in thelurchermutant mouse cerebellum
- (2009) C.A. Duffin et al. JOURNAL OF COMPARATIVE NEUROLOGY
- Ataxia with loss of Purkinje cells in a mouse model for Refsum disease
- (2008) S. Ferdinandusse et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
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