4.6 Article

TSEN54 missense variant in Standard Schnauzers with leukodystrophy

Related references

Note: Only part of the references are listed.
Article Multidisciplinary Sciences

Canine NAPEPLD-associated models of human myelin disorders

K. M. Minor et al.

SCIENTIFIC REPORTS (2018)

Article Genetics & Heredity

MKLN1 splicing defect in dogs with lethal acrodermatitis

Anina Bauer et al.

PLOS GENETICS (2018)

Article Clinical Neurology

Clinical and genetic characterization of leukoencephalopathies in adults

David S. Lynch et al.

BRAIN (2017)

Article Biochemistry & Molecular Biology

A canine orthologue of the human GFAP c.716G>A (p.Arg239His) variant causes Alexander disease in a Labrador retriever

Mario Van Poucke et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2016)

Review Endocrinology & Metabolism

Case definition and classification of leukodystrophies and leukoencephalopathies

Adeline Vanderver et al.

MOLECULAR GENETICS AND METABOLISM (2015)

Article Biochemistry & Molecular Biology

DoGSD: the dog and wolf genome SNP database

Bing Bai et al.

NUCLEIC ACIDS RESEARCH (2015)

Article Clinical Neurology

Novel Mutations in TSEN54 in Pontocerebellar Hypoplasia Type 2

Roberta Battini et al.

JOURNAL OF CHILD NEUROLOGY (2014)

Article Veterinary Sciences

Magnetic resonance imaging and genetic investigation of a case of rottweiler leukoencephalomyelopathy

Katrin Hirschvogel et al.

BMC VETERINARY RESEARCH (2013)

Article Biochemistry & Molecular Biology

TSEN54 mutations cause pontocerebellar hypoplasia type 5

Yasmin Namavar et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2011)

Article Clinical Neurology

Magnetic resonance imaging pattern recognition in hypomyelinating disorders

Marjan E. Steenweg et al.

BRAIN (2010)

Article Veterinary Sciences

Clinical signs and neuropathologic abnormalities in working Australian Kelpies with globoid cell leukodystrophy (Krabbe disease)

Jessica L. Fletcher et al.

JAVMA-JOURNAL OF THE AMERICAN VETERINARY MEDICAL ASSOCIATION (2010)

Review Clinical Neurology

Axonal Damage in Leukodystrophies

Soe Mar et al.

PEDIATRIC NEUROLOGY (2010)

Article Veterinary Sciences

NORMAL CANINE BRAIN MATURATION AT MAGNETIC RESONANCE IMAGING

Bill Gross et al.

VETERINARY RADIOLOGY & ULTRASOUND (2010)

Article Clinical Neurology

Invited Article: An MRI-based approach to the diagnosis of white matter disorders

Raphael Schiffmann et al.

NEUROLOGY (2009)

Article Genetics & Heredity

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

Birgit S. Budde et al.

NATURE GENETICS (2008)

Article Genetics & Heredity

PLINK: A tool set for whole-genome association and population-based linkage analyses

Shaun Purcell et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2007)

Article Clinical Neurology

Nogo-A is a reliable oligodendroglial marker in adult human and mouse CNS and in demyelinated lesions

Tanja Kuhlmann et al.

JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY (2007)

Article Genetics & Heredity

Severe, fetal-onset form of Olivopontocerebellar hypoplasia in three sibs: PCH type 5?

MS Patel et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2006)

Article Genetics & Heredity

Merlin-rapid analysis of dense genetic maps using sparse gene flow trees

GR Abecasis et al.

NATURE GENETICS (2002)

Article Veterinary Sciences

Magnetic resonance imaging of spongy degeneration of the central nervous system in a Labrador Retriever

CL Mariani et al.

VETERINARY RADIOLOGY & ULTRASOUND (2001)