Analysis of splicing abnormalities in the white matter of myotonic dystrophy type 1 brain using RNA sequencing

Human brain pathology in myotonic dystrophy type 1: A systematic review

(2021) Ralf Weijs et al.   NEUROPATHOLOGY

The complexities of CACNA1A in clinical neurogenetics

(2021) Marina P. Hommersom et al.   JOURNAL OF NEUROLOGY

Molecular control of local translation in axon development and maintenance

(2018) Jean-Michel Cioni et al.   CURRENT OPINION IN NEUROBIOLOGY

Calcium Channels, Synaptic Plasticity, and Neuropsychiatric Disease

(2018) Evanthia Nanou et al.   NEURON

Brain imaging in myotonic dystrophy type 1

(2017) Kees Okkersen et al.   NEUROLOGY

Myotonic dystrophies: An update on clinical aspects, genetic, pathology, and molecular pathomechanisms

(2015) Giovanni Meola et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

HISAT: a fast spliced aligner with low memory requirements

(2015) Daehwan Kim et al.   NATURE METHODS

MBNL Sequestration by Toxic RNAs and RNA Misprocessing in the Myotonic Dystrophy Brain

(2015) Marianne Goodwin et al.   Cell Reports

RNA-seq: impact of RNA degradation on transcript quantification

(2014) Irene Gallego Romero et al.   BMC BIOLOGY

Consensus on cerebral involvement in myotonic dystrophy

(2014) E. Bugiardini et al.   NEUROMUSCULAR DISORDERS

rMATS: Robust and flexible detection of differential alternative splicing from replicate RNA-Seq data

(2014) Shihao Shen et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Myotonic dystrophy CTG expansion affects synaptic vesicle proteins, neurotransmission and mouse behaviour

(2013) Oscar Hernández-Hernández et al.   BRAIN

Investigation of the freely available easy-to-use software ‘EZR’ for medical statistics

(2012) Y Kanda   BONE MARROW TRANSPLANTATION

Muscleblind-like 2-Mediated Alternative Splicing in the Developing Brain and Dysregulation in Myotonic Dystrophy

(2012) Konstantinos Charizanis et al.   NEURON

Brain involvement in myotonic dystrophies: neuroimaging and neuropsychological comparative study in DM1 and DM2

(2010) Vincenzo Romeo et al.   JOURNAL OF NEUROLOGY

Scaled-down genetic analysis of myotonic dystrophy type 1 and type 2

(2009) Masayuki Nakamori et al.   NEUROMUSCULAR DISORDERS

The loss of methyl-CpG binding protein 1 leads to autism-like behavioral deficits

(2008) A. M. Allan et al.   HUMAN MOLECULAR GENETICS

Paralemmin-1, a Modulator of Filopodia Induction Is Required for Spine Maturation

(2008) Pamela Arstikaitis et al.   MOLECULAR BIOLOGY OF THE CELL