Developmental epileptic encephalopathy with hypomyelination and brain atrophy associated with PTPN23 variants affecting the assembly of UsnRNPs

snRNP proteins in health and disease

(2018) Michaela Krausová et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology

(2017) Ingrid E. Scheffer et al.   EPILEPSIA

Mutations of PTPN23 in developmental and epileptic encephalopathy

(2017) Nadine Sowada et al.   HUMAN GENETICS

Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability

(2017) Nuria C. Bramswig et al.   HUMAN GENETICS

Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females

(2016) Jennifer M. Bain et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Clinical exome sequencing: results from 2819 samples reflecting 1000 families

(2016) Daniel Trujillano et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Haploinsufficiency of the ESCRT Component HD-PTP Predisposes to Cancer

(2016) Sanaz Manteghi et al.   Cell Reports

Spectrum of Neuropathophysiology in Spinal Muscular Atrophy Type I

(2015) Brian N. Harding et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

The catalytically inactive tyrosine phosphatase HD-PTP/PTPN23 is a novel regulator of SMN complex localization

(2015) Alma Husedzinovic et al.   MOLECULAR BIOLOGY OF THE CELL

Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families

(2015) Anas M. Alazami et al.   Cell Reports

Does p.Q247X in TRIM63 Cause Human Hypertrophic Cardiomyopathy?

(2014) Rafał Płoski et al.   CIRCULATION RESEARCH

Nuclear Matrix Factor hnRNP U/SAF-A Exerts a Global Control of Alternative Splicing by Regulating U2 snRNP Maturation

(2012) Rui Xiao et al.   MOLECULAR CELL

SMN deficiency disrupts brain development in a mouse model of severe spinal muscular atrophy

(2010) Thomas M. Wishart et al.   HUMAN MOLECULAR GENETICS

Functional genomic screen for modulators of ciliogenesis and cilium length

(2010) Joon Kim et al.   NATURE

Expression analysis and essential role of the putative tyrosine phosphatase His-domain-containing protein tyrosine phosphatase (HD-PTP)

(2009) Marie-Claude Gingras et al.   INTERNATIONAL JOURNAL OF DEVELOPMENTAL BIOLOGY

HD-PTP Is a Catalytically Inactive Tyrosine Phosphatase Due to a Conserved Divergence in Its Phosphatase Domain

(2009) Marie-Claude Gingras et al.   PLoS One

The Bro1-related protein HD-PTP/PTPN23 is required for endosomal cargo sorting and multivesicular body morphogenesis

(2008) A. Doyotte et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA