相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities
Renee Bend et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2020)
ESCRT-III-associated proteins and spastin inhibit protrudin-dependent polarised membrane traffic
James W. Connell et al.
CELLULAR AND MOLECULAR LIFE SCIENCES (2020)
Charcot-Marie-Tooth disease and related disorders: an evolving landscape
Matilde Laura et al.
CURRENT OPINION IN NEUROLOGY (2019)
Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia
Mohammad Ali Farazi Fard et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2019)
Developmental epileptic encephalopathy with hypomyelination and brain atrophy associated with PTPN23 variants affecting the assembly of UsnRNPs
Robert Smigiel et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2018)
Clinical exome sequencing: results from 2819 samples reflecting 1000 families
Daniel Trujillano et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2017)
Mutations of PTPN23 in developmental and epileptic encephalopathy
Nadine Sowada et al.
HUMAN GENETICS (2017)
Genetic and phenotypic characterization of complex hereditary spastic paraplegia
Eleanna Kara et al.
BRAIN (2016)
The catalytically inactive tyrosine phosphatase HD-PTP/PTPN23 is a novel regulator of SMN complex localization
Alma Husedzinovic et al.
MOLECULAR BIOLOGY OF THE CELL (2015)
Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families
Anas M. Alazami et al.
CELL REPORTS (2015)
The Global Epidemiology of Hereditary Ataxia and Spastic Paraplegia: A Systematic Review of Prevalence Studies
Luis Ruano et al.
NEUROEPIDEMIOLOGY (2014)
Protein tyrosine phosphatases - from housekeeping enzymes to master regulators of signal transduction
Nicholas K. Tonks
FEBS JOURNAL (2013)
SPG20 Protein Spartin Is Recruited to Midbodies by ESCRT-III Protein Ist1 and Participates in Cytokinesis
Benoit Renvoise et al.
MOLECULAR BIOLOGY OF THE CELL (2010)
Functional genomic screen for modulators of ciliogenesis and cilium length
Joon Kim et al.
NATURE (2010)
Histidine Domain-Protein Tyrosine Phosphatase Interacts with Grb2 and GrpL
Carmen-Alexandra Tanase
PLOS ONE (2010)
HD-PTP Is a Catalytically Inactive Tyrosine Phosphatase Due to a Conserved Divergence in Its Phosphatase Domain
Marie-Claude Gingras et al.
PLOS ONE (2009)
The Bro1-related protein HD-PTP/PTPN23 is required for endosomal cargo sorting and multivesicular body morphogenesis
Aurelie Doyotte et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)
Structural and functional studies of ALIX interactions with YPXnL late domains of HIV-1 and EIAV
Qianting Zhai et al.
NATURE STRUCTURAL & MOLECULAR BIOLOGY (2008)
The natural history of Noonan syndrome: a long-term follow-up study
A. C. Shaw et al.
ARCHIVES OF DISEASE IN CHILDHOOD (2007)
Protein tyrosine phosphatases: from genes, to function, to disease
Nicholas K. Tonks
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2006)
The hereditary spastic paraplegia protein spastin interacts with the ESCRT-III complex-associated endosomal protein CHMP1B
E Reid et al.
HUMAN MOLECULAR GENETICS (2005)
Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome
C Windpassinger et al.
NATURE GENETICS (2004)
Troyer syndrome revisited - A clinical and radiological study of a complicated hereditary spastic paraplegia
C Proukakis et al.
JOURNAL OF NEUROLOGY (2004)
Protein tyrosine phosphatases in the human genome
A Alonso et al.
CELL (2004)
The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia
FD Ciccarelli et al.
GENOMICS (2003)
SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia
H Patel et al.
NATURE GENETICS (2002)
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome
M Tartaglia et al.
NATURE GENETICS (2001)