A novel mouse model carrying a human cytoplasmic dynein mutation shows motor behavior deficits consistent with Charcot-Marie-Tooth type 2O disease

DYNC1H1 mutations associated with neurological diseases compromise processivity of dynein–dynactin–cargo adaptor complexes

(2017) Ha Thi Hoang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Charcot-Marie-Tooth Disease: An Overview of Genotypes, Phenotypes, and Clinical Management Strategies

(2014) Rima El-Abassi et al.   PM&R

Analyses of Dynein Heavy Chain Mutations Reveal Complex Interactions Between Dynein Motor Domains and Cellular Dynein Functions

(2012) S. Sivagurunathan et al.   GENETICS

A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance

(2012) Yoshinori Tsurusaki et al.   NEUROGENETICS

Charcot–Marie–Tooth disease and intracellular traffic

(2012) Cecilia Bucci et al.   PROGRESS IN NEUROBIOLOGY

Exome Sequencing Identifies a DYNC1H1 Mutation in a Large Pedigree with Dominant Axonal Charcot-Marie-Tooth Disease

(2011) Michael N. Weedon et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Charcot-marie-tooth disease subtypes and genetic testing strategies

(2011) Anita S.D. Saporta et al.   ANNALS OF NEUROLOGY

Neuromuscular Junction Defects in Mice with Mutation of dynein heavy chain 1

(2011) Stephanie L. Courchesne et al.   PLoS One

A high-level 3D visualization API for Java and ImageJ

(2010) Benjamin Schmid et al.   BMC BIOINFORMATICS

3D reconstruction of histological sections: Application to mammary gland tissue

(2010) Ignacio Arganda-Carreras et al.   MICROSCOPY RESEARCH AND TECHNIQUE

Natural history of Charcot–Marie-Tooth 2: 2-year follow-up of muscle strength, walking ability and quality of life

(2009) Luca Padua et al.   NEUROLOGICAL SCIENCES

Factors that influence health-related quality of life in Australian adults with Charcot–Marie–Tooth disease

(2008) Anthony C. Redmond et al.   NEUROMUSCULAR DISORDERS

Mutant dynein (Loa) triggers proprioceptive axon loss that extends survival only in the SOD1 ALS model with highest motor neuron death

(2008) H. S. Ilieva et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA