Myelin-associated glycoprotein gene mutation causes Pelizaeus-Merzbacher disease-like disorder

A de novo TUBB4A mutation in a patient with hypomyelination mimicking Pelizaeus–Merzbacher disease

(2015) Keiko Shimojima et al.   BRAIN & DEVELOPMENT

Hypomyelinating leukodystrophies: Translational research progress and prospects

(2014) Petra J. W. Pouwels et al.   ANNALS OF NEUROLOGY

Accurate Proteome-wide Label-free Quantification by Delayed Normalization and Maximal Peptide Ratio Extraction, Termed MaxLFQ

(2014) Jürgen Cox et al.   MOLECULAR & CELLULAR PROTEOMICS

Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies

(2014) S. Miyatake et al.   NEUROLOGY

Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

(2014) G. Novarino et al.   SCIENCE

Myelin-specific proteins: A structurally diverse group of membrane-interacting molecules

(2013) Huijong Han et al.   BIOFACTORS

Pelizaeus-Merzbacher Disease, Pelizaeus-Merzbacher-Like Disease 1, and Related Hypomyelinating Disorders

(2012) Grace Hobson et al.   SEMINARS IN NEUROLOGY

Andromeda: A Peptide Search Engine Integrated into the MaxQuant Environment

(2011) Jürgen Cox et al.   JOURNAL OF PROTEOME RESEARCH

SMART 7: recent updates to the protein domain annotation resource

(2011) I. Letunic et al.   NUCLEIC ACIDS RESEARCH

Pelizaeus-Merzbacher-like Disease Caused by AIMP1/p43 Homozygous Mutation

(2010) Miora Feinstein et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Cavβ subunit prevents RFP2-mediated ubiquitination and proteasomal degradation of L-type channels

(2010) Christophe Altier et al.   NATURE NEUROSCIENCE

I-TASSER: a unified platform for automated protein structure and function prediction

(2010) Ambrish Roy et al.   Nature Protocols

Pelizaeus-Merzbacher-Like disease presentation of MCT8 mutated male subjects

(2009) Catherine Vaurs-Barrière et al.   ANNALS OF NEUROLOGY

Axonal Protective Effects of the Myelin-Associated Glycoprotein

(2009) T. Nguyen et al.   JOURNAL OF NEUROSCIENCE

HomozygosityMapper--an interactive approach to homozygosity mapping

(2009) D. Seelow et al.   NUCLEIC ACIDS RESEARCH

Mitochondrial Hsp60 Chaperonopathy Causes an Autosomal-Recessive Neurodegenerative Disorder Linked to Brain Hypomyelination and Leukodystrophy

(2008) Daniella Magen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Classification of Childhood White Matter Disorders Using Proton MR Spectroscopic Imaging

(2008) A. Bizzi et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations

(2008) Jennifer L. Orthmann-Murphy et al.   BRAIN

Coordinated Lipid Transfer between the Endoplasmic Reticulum and the Golgi Complex Requires the VAP Proteins and Is Essential for Golgi-mediated Transport

(2008) Diego Peretti et al.   MOLECULAR BIOLOGY OF THE CELL

OS-9 and GRP94 deliver mutant α1-antitrypsin to the Hrd1–SEL1L ubiquitin ligase complex for ERAD

(2008) John C. Christianson et al.   NATURE CELL BIOLOGY