Clinical and Functional Characterization of a Missense ELF2 Variant in a CANVAS Family

Motor Deficits and Cerebellar Atrophy in Elovl5 Knock Out Mice

(2017) Eriola Hoxha et al.   Frontiers in Cellular Neuroscience

A novel missense variant inPRKCBsegregates low-frequency hearing loss in an autosomal dominant family with Meniere’s disease

(2016) Carmen Martín-Sierra et al.   HUMAN MOLECULAR GENETICS

Expanding Roles for Lipid Droplets

(2015) Michael A. Welte   CURRENT BIOLOGY

Can whole-exome sequencing data be used for linkage analysis?

(2015) Steven Gazal et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Neurophysiological evidence for generalized sensory neuronopathy in cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome

(2015) David J. Szmulewicz et al.   MUSCLE & NERVE

ELOVL5 Mutations Cause Spinocerebellar Ataxia 38

(2014) Eleonora Di Gregorio et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Dorsal root ganglionopathy is responsible for the sensory impairment in CANVAS

(2014) D. J. Szmulewicz et al.   NEUROLOGY

A Chimeric HS4-SAR Insulator (IS2) That Prevents Silencing and Enhances Expression of Lentiviral Vectors in Pluripotent Stem Cells

(2014) Karim Benabdellah et al.   PLoS One

Loss of Function of Glucocerebrosidase GBA2 Is Responsible for Motor Neuron Defects in Hereditary Spastic Paraplegia

(2013) Elodie Martin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Alteration of Ganglioside Biosynthesis Responsible for Complex Hereditary Spastic Paraplegia

(2013) Amir Boukhris et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mesenchymal Stem Cells Expressing Vasoactive Intestinal Peptide Ameliorate Symptoms in a Model of Chronic Multiple Sclerosis

(2013) Marién Cobo et al.   CELL TRANSPLANTATION

COPI buds 60-nm lipid droplets from reconstituted water-phospholipid-triacylglyceride interfaces, suggesting a tension clamp function

(2013) A. R. Thiam et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Alteration of Fatty-Acid-Metabolizing Enzymes Affects Mitochondrial Form and Function in Hereditary Spastic Paraplegia

(2012) Christelle Tesson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

ETS1 regulates the expression of ATXN2

(2012) Daniel R. Scoles et al.   HUMAN MOLECULAR GENETICS

An anatomically comprehensive atlas of the adult human brain transcriptome

(2012) Michael J. Hawrylycz et al.   NATURE

Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35)

(2010) Katherine J. Dick et al.   HUMAN MUTATION

Cargo recognition failure is responsible for inefficient autophagy in Huntington's disease

(2010) Marta Martinez-Vicente et al.   NATURE NEUROSCIENCE

The TRANSFAC project as an example of framework technology that supports the analysis of genomic regulation

(2008) E. Wingender   BRIEFINGS IN BIOINFORMATICS

Improved lentiviral vectors for Wiskott–Aldrich syndrome gene therapy mimic endogenous expression profiles throughout haematopoiesis

(2008) C Frecha et al.   GENE THERAPY