about
Absence of gemin5 from SMN complexes in nuclear Cajal bodiesThe Duchenne muscular dystrophy gene product is localized in sarcolemma of human skeletal muscleThe zinc finger protein ZPR1 is a potential modifier of spinal muscular atrophy.Identification and characterization of RPTP rho, a novel RPTP mu/kappa-like receptor protein tyrosine phosphatase whose expression is restricted to the central nervous systemIntragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number.A positive modifier of spinal muscular atrophy in the SMN2 geneA large animal model of spinal muscular atrophy and correction of phenotype.Nuclear gems and Cajal (coiled) bodies in fetal tissues: nucleolar distribution of the spinal muscular atrophy protein, SMNEarly heart failure in the SMNDelta7 model of spinal muscular atrophy and correction by postnatal scAAV9-SMN deliveryA novel method for oral delivery of drug compounds to the neonatal SMNDelta7 mouse model of spinal muscular atrophyEffects of 2,4-diaminoquinazoline derivatives on SMN expression and phenotype in a mouse model for spinal muscular atrophyA genetic model of amyotrophic lateral sclerosis in zebrafish displays phenotypic hallmarks of motoneuron diseaseProtective effects of butyrate-based compounds on a mouse model for spinal muscular atrophy.Identification of survival motor neuron as a transcriptional activator-binding protein.Ribonucleoprotein assembly defects correlate with spinal muscular atrophy severity and preferentially affect a subset of spliceosomal snRNPsThe effect of diet on the protective action of D156844 observed in spinal muscular atrophy mice.Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?Immunohistochemical analysis of dystrophin-associated proteins in Becker/Duchenne muscular dystrophy with huge in-frame deletions in the NH2-terminal and rod domains of dystrophinTemporal requirement for high SMN expression in SMA miceSystemic gene delivery in large species for targeting spinal cord, brain, and peripheral tissues for pediatric disordersAn 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy (SMA) phenotype: further evidence for SMN as the primary SMA-determining gene.Novel receptor protein tyrosine phosphatase (RPTPrho) and acidic fibroblast growth factor (FGF-1) transcripts delineate a rostrocaudal boundary in the granule cell layer of the murine cerebellar cortex.Improving single injection CSF delivery of AAV9-mediated gene therapy for SMA: a dose-response study in mice and nonhuman primates.Astrocytes from familial and sporadic ALS patients are toxic to motor neuronsIdentification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy numberKnockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding.Plastin 3 Expression Does Not Modify Spinal Muscular Atrophy Severity in the ∆7 SMA MouseSMN deficiency disrupts gastrointestinal and enteric nervous system function in miceSMN expression is required in motor neurons to rescue electrophysiological deficits in the SMNΔ7 mouse model of SMA.Low levels of Survival Motor Neuron protein are sufficient for normal muscle function in the SMNΔ7 mouse model of SMA.Normalization of Patient-Identified Plasma Biomarkers in SMNΔ7 Mice following Postnatal SMN Restoration.A transgene carrying an A2G missense mutation in the SMN gene modulates phenotypic severity in mice with severe (type I) spinal muscular atrophy.The neuromuscular impact of symptomatic SMN restoration in a mouse model of spinal muscular atrophy.Baseline results of the NeuroNEXT spinal muscular atrophy infant biomarker study.Refined physical map of the spinal muscular atrophy gene (SMA) region at 5q13 based on YAC and cosmid contiguous arrays.Other forms of survival motor neuron protein and spinal muscular atrophy: an opinion.Direct conversion of patient fibroblasts demonstrates non-cell autonomous toxicity of astrocytes to motor neurons in familial and sporadic ALSElectrophysiological Biomarkers in Spinal Muscular Atrophy: Preclinical Proof of Concept.Protein phosphatase 1 binds to the RNA recognition motif of several splicing factors and regulates alternative pre-mRNA processing.Diverse small-molecule modulators of SMN expression found by high-throughput compound screening: early leads towards a therapeutic for spinal muscular atrophy.
P50
Q21284155-D288AA28-BF44-4901-AACB-9AF1D6E26CCEQ24297845-E5CCD8A9-3B0E-48B3-9283-5FC8987B04ADQ24307665-F0A5C457-591B-48C9-8C7A-3AE8A88893E9Q24319727-EEEFD81F-F358-4F5C-9140-32A500E9652CQ24539804-1CFB7581-39C9-4115-966C-9229B876B313Q24646149-9FE7F257-E85E-4EB9-836D-3DC969B49DCBQ27340106-430473E4-8D80-48F0-A273-D09587795B73Q28212467-0581C5B1-82AA-47CD-A3FD-D1A9D59B36A0Q28288188-84663309-96B3-4D57-B55E-980F1B5CBE94Q30488346-56283133-20A9-4ECB-8C6C-24BAA6107FDDQ30492560-543BA632-BFC4-44EA-A9E4-106A939C6B84Q30496374-F1FD4ACE-7695-4906-808C-A841209720D2Q30743508-EC907958-9AE1-4CDA-AC92-A0C83DA2D3CDQ33292104-3D1C8818-66F0-480E-8FD3-43E118DCC92AQ33300324-5C8ED96E-C712-4F9F-9705-35FB9E1ABE2FQ33645966-631F1549-AF57-4CFD-96B1-34630E415888Q33785933-89608707-418B-4A16-81A3-56DE624EF30EQ34119276-96528C64-7BC4-4086-A7FD-C79E47365AA3Q34192528-3F90413D-6FC0-4486-B5DB-5AD5EDC89B82Q34205620-3ABDAB8A-F3D8-4E98-9AAA-7D01E01E64C3Q34407787-30AECCD2-5BE4-4D47-83F3-C5952B26BAF1Q34458651-2A92CDDF-42F1-41E1-88FE-F4698625D566Q35153080-72B7A834-8700-45B9-A316-E5D986728D5AQ35206666-CB715BAF-5EB5-4353-9CC0-961A96DB9644Q35250646-6BC26DFA-97ED-43E0-96A1-BCAB7147C6A6Q35567371-2F469EAF-D451-41EF-A052-035A02FAEB45Q35680796-AE9FCAF3-C039-407C-B845-50B274C5C7C6Q35975274-1B6FC837-25EB-4A2E-97A1-3DD7A1222D58Q36065456-5D498721-B4FD-4E76-B2F9-D71A59202466Q36142393-8C1F61D5-280C-4CB1-AA84-6481C80E7201Q36209787-B4EE1278-E651-48B4-BF42-3B1C18D1A0A1Q36323111-BD83F936-1FA2-45E4-9505-C9F71817B0EBQ36494820-46C0A07F-A5C6-4E93-8500-887B8C92CF56Q36565221-041A31C3-7B87-4ECC-BAC8-BABDC935293AQ36686986-1D9E8BA5-C23F-4414-8257-F4B119E01685Q37118616-66BAC6F2-56D0-45A5-8A5D-47B399857974Q37495227-EF04B369-B0D6-4AAA-9FC2-0EA545E6CECDQ37556531-456F9B2E-8964-4A53-A568-2D59DB4D7484Q38297672-6AFF722A-FD40-4FD9-BD8D-76236D124A3EQ38325235-A0A4A064-A796-4FBE-8DA2-47BC0E2B25E8
P50
description
researcher ORCID ID = 0000-0001-9031-1555
@en
wetenschapper
@nl
name
A Burghes
@ast
A Burghes
@en
A Burghes
@es
A Burghes
@nl
type
label
A Burghes
@ast
A Burghes
@en
A Burghes
@es
A Burghes
@nl
prefLabel
A Burghes
@ast
A Burghes
@en
A Burghes
@es
A Burghes
@nl
P106
P1153
7006115989
P31
P496
0000-0001-9031-1555