Lista de obras -

A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominance

scientific journal article

A randomized placebo‐controlled phase 3 study of mesenchymal stem cells induced to secrete high levels of neurotrophic factors in amyotrophic lateral sclerosis

ALS disrupts spinal motor neuron maturation and aging pathways within gene co-expression networks

artículo científico publicado en 2016

Addressing heterogeneity in amyotrophic lateral sclerosis CLINICAL TRIALS

artículo científico publicado en 2020

Altered axonal mitochondrial transport in the pathogenesis of Charcot-Marie-Tooth disease from mitofusin 2 mutations

artículo científico publicado en 2007

Amyotrophic Lateral Sclerosis Care and Research in the USA During the COVID-19 Pandemic: Challenges and Opportunities

artículo científico publicado en 2020

Amyotrophic lateral sclerosis onset is influenced by the burden of rare variants in known amyotrophic lateral sclerosis genes.

artículo científico publicado en 2014

Anemia, Paresthesias, and Gait Ataxia in a 57-Year-Old Denture Wearer ⬇️

artículo científico publicado el 1 de agosto de 2011

Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines

artículo científico publicado en 2022

Artemin, a novel member of the GDNF ligand family, supports peripheral and central neurons and signals through the GFRalpha3-RET receptor complex

artículo científico publicado en 1998

Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

artículo científico publicado en 2022

Autophagic vacuolar pathology in desminopathies

artículo científico publicado en 2014

Burst mitofusin activation reverses neuromuscular dysfunction in murine CMT2A

artículo científico publicado en 2020

C9orf72 BAC Transgenic Mice Display Typical Pathologic Features of ALS/FTD

artículo científico publicado en 2015

C9orf72 in myeloid cells suppresses STING-induced inflammation

artículo científico publicado en 2020

C9orf72 is required for proper macrophage and microglial function in mice

artículo científico publicado en 2016

Cell transplantation strategies for acquired and inherited disorders of peripheral myelin

artículo científico publicado en 2018

Chronic cough due to Thr124Met mutation in the peripheral myelin protein zero (MPZ gene).

artículo científico publicado en 2004

Clinical neurogenetics: amyotrophic lateral sclerosis

artículo científico publicado en 2013

Common and rare variant association analyses in Amyotrophic Lateral Sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

artículo científico

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

artículo científico

Comparison of three congruent patient-specific cell types for the modelling of a human genetic Schwann-cell disorder

artículo científico publicado en 2019

Congenital hypomyelinating neuropathy with lethal conduction failure in mice carrying the Egr2 I268N mutation.

artículo científico publicado en 2009

Cross-Comparison of Human iPSC Motor Neuron Models of Familial and Sporadic ALS Reveals Early and Convergent Transcriptomic Disease Signatures

scientific article published on 23 December 2020

Deciphering amyotrophic lateral sclerosis: what phenotype, neuropathology and genetics are telling us about pathogenesis

artículo científico publicado en 2013

Dejerine-Sottas syndrome and vestibular loss due to a point mutation in the PMP22 gene

artículo científico publicado en 2005

Dominant spinal muscular atrophy with lower extremity predominance: linkage to 14q32.

artículo científico publicado en 2010

Dynein mutations associated with hereditary motor neuropathies impair mitochondrial morphology and function with age.

artículo científico publicado en 2013

Effect of Ezogabine on Cortical and Spinal Motor Neuron Excitability in Amyotrophic Lateral Sclerosis: A Randomized Clinical Trial

artículo científico publicado en 2020

Endolysosomal sorting of ubiquitylated caveolin-1 is regulated by VCP and UBXD1 and impaired by VCP disease mutations

artículo científico publicado en 2011

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

artículo científico publicado en 2015

Exome sequencing reveals DNAJB6 mutations in dominantly‐inherited myopathy ⬇️

artículo científico publicado el 14 de febrero de 2012

Expression of neurturin, GDNF, and their receptors in the adult mouse CNS.

artículo científico publicado en 1998

Familial ALS with extreme phenotypic variability due to the I113T SOD1 mutation

article

Familial parkinsonism and ophthalmoplegia from a mutation in the mitochondrial DNA helicase twinkle

artículo científico publicado en 2007

Frequent atrophic groups with mixed-type myofibers is distinctive to motor neuron syndromes

artículo científico publicado en 2007

Functional mapping of receptor specificity domains of glial cell line-derived neurotrophic factor (GDNF) family ligands and production of GFRalpha1 RET-specific agonists

artículo científico publicado en 2000

GFRalpha-mediated localization of RET to lipid rafts is required for effective downstream signaling, differentiation, and neuronal survival

artículo científico publicado en 2000

GFRalpha1 expression in cells lacking RET is dispensable for organogenesis and nerve regeneration

artículo científico publicado en 2004

GFRα3 is an orphan member of the GDNF/neurturin/persephin receptor family ⬇️

artículo científico publicado el 12 de mayo de 1998

Genetic evaluation of inherited muscle diseases.

artículo científico publicado en 2011

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

artículo científico publicado en 2018

How do the RNA-binding proteins TDP-43 and FUS relate to amyotrophic lateral sclerosis and frontotemporal degeneration, and to each other?

artículo científico publicado en 2012

Implications of the prion-related Q/N domains in TDP-43 and FUS ⬇️

artículo científico publicado el 1 de enero de 2011

Inflammation in ALS/FTD pathogenesis

artículo científico publicado en 2018

Interaction with polyglutamine aggregates reveals a Q/N-rich domain in TDP-43.

artículo científico publicado en 2010

Lack of C9ORF72 coding mutations supports a gain of function for repeat expansions in amyotrophic lateral sclerosis

artículo científico publicado en 2013

Low-Dose Irradiation Enhances Gene Targeting in Human Pluripotent Stem Cells

artículo científico publicado en 2015

MFN2 agonists reverse mitochondrial defects in preclinical models of Charcot-Marie-Tooth disease type 2A.

artículo científico publicado en 2018

MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs

artículo científico publicado en 2015

Microglia and C9orf72 in neuroinflammation and ALS and frontotemporal dementia

artículo científico publicado en 2017

Misexpression of Pou3f1 results in peripheral nerve hypomyelination and axonal loss.

artículo científico publicado en 2007

Mitochondrial dynamics and peripheral neuropathy

artículo científico publicado en 2007

Mitofusin 2 is necessary for transport of axonal mitochondria and interacts with the Miro/Milton complex

artículo científico publicado en 2010

Mitofusin2 mutations disrupt axonal mitochondrial positioning and promote axon degeneration

scientific journal article

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

artículo científico publicado en 2014

Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy ⬇️

artículo científico publicado el 28 de marzo de 2012

Neurturin shares receptors and signal transduction pathways with glial cell line-derived neurotrophic factor in sympathetic neurons

artículo científico publicado en 1997

Normal role of the low-molecular-weight neurofilament protein in mitochondrial dynamics and disruption in Charcot-Marie-Tooth disease

artículo científico publicado en 2011

Novel GNE mutations in two phenotypically distinct HIBM2 patients ⬇️

artículo científico publicado el 4 de diciembre de 2010

Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy

artículo científico publicado en 2015

Palatal tremor as a presenting symptom of amyotrophic lateral sclerosis

artículo científico publicado en 2018

Patients with ALS show highly correlated progression rates in left and right limb muscles

artículo científico publicado en 2017

Persephin, a novel neurotrophic factor related to GDNF and neurturin

artículo científico publicado en 1998

Prion-like nuclear aggregation of TDP-43 during heat shock is regulated by HSP40/70 chaperones

artículo científico publicado en 2013

Prospective natural history study of C9orf72 ALS clinical characteristics and biomarkers

scientific article published on 02 October 2019

Restoring mitofusin balance prevents axonal degeneration in a Charcot-Marie-Tooth type 2A model

scientific article published on 18 March 2019

Revised Airlie House consensus guidelines for design and implementation of ALS clinical trials

article

Sarcoplasmic redistribution of nuclear TDP-43 in inclusion body myositis

artículo científico publicado en 2009

Schwann Cell Mitochondrial Metabolism Supports Long-Term Axonal Survival and Peripheral Nerve Function ⬇️

artículo científico publicado el 13 de julio de 2011

Sir-two-homolog 2 (Sirt2) modulates peripheral myelination through polarity protein Par-3/atypical protein kinase C (aPKC) signaling

artículo científico publicado en 2011

Sizing, stabilising, and cloning repeat-expansions for gene targeting constructs

scientific article published on 25 July 2020

Stem cell transplantation for amyotrophic lateral sclerosis

scientific article published on 01 October 2018

Structure of artemin complexed with its receptor GFRalpha3: convergent recognition of glial cell line-derived neurotrophic factors

artículo científico publicado en 2006

T Cell-Intrinsic Receptor Interacting Protein 2 Regulates Pathogenic T Helper 17 Cell Differentiation

scholarly article by Kenichi Shimada et al published 16 October 2018 in Immunity

TDP-43 A315T mutation in familial motor neuron disease

artículo científico publicado en 2008

TDP-43 activates microglia through NF-κB and NLRP3 inflammasome.

artículo científico publicado en 2015

TDP-43 mutant transgenic mice develop features of ALS and frontotemporal lobar degeneration

artículo científico publicado en 2009

TDP-43 proteinopathy in familial motor neurone disease with TARDBP A315T mutation: a case report ⬇️

artículo científico publicado el 1 de diciembre de 2010

TDP-43-Based Animal Models of Neurodegeneration: New Insights into ALS Pathology and Pathophysiology ⬇️

artículo científico publicado el 3 de diciembre de 2010

TDP-43: the relationship between protein aggregation and neurodegeneration in amyotrophic lateral sclerosis and frontotemporal lobar degeneration

scientific article published on 24 August 2011

TREM2 variant p.R47H as a risk factor for sporadic amyotrophic lateral sclerosis

artículo científico publicado en 2014

Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration

artículo científico publicado en 2013

Targeted sequencing and identification of genetic variants in sporadic inclusion body myositis

artículo científico publicado en 2015

Targeting RNA foci in iPSC-derived motor neurons from ALS patients with a C9ORF72 repeat expansion

artículo científico publicado en 2013

The GDNF family ligands and receptors - implications for neural development

artículo científico publicado en 2000

The NIMA-family kinase Nek3 regulates microtubule acetylation in neurons

scientific journal article

The Nerve to Give BACE Inhibitors a Second Chance?

artículo científico publicado en 2020

Transgenic mice expressing the Nmnat1 protein manifest robust delay in axonal degeneration in vivo

artículo científico publicado en 2009

TrnR2, a novel receptor that mediates neurturin and GDNF signaling through Ret.

artículo científico publicado en 1997

Valosin-containing protein (VCP) is required for autophagy and is disrupted in VCP disease

artículo científico publicado en 2009

Lista de obras de

A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominance

A randomized placebo‐controlled phase 3 study of mesenchymal stem cells induced to secrete high levels of neurotrophic factors in amyotrophic lateral sclerosis

ALS disrupts spinal motor neuron maturation and aging pathways within gene co-expression networks

Addressing heterogeneity in amyotrophic lateral sclerosis CLINICAL TRIALS

Altered axonal mitochondrial transport in the pathogenesis of Charcot-Marie-Tooth disease from mitofusin 2 mutations

Amyotrophic Lateral Sclerosis Care and Research in the USA During the COVID-19 Pandemic: Challenges and Opportunities

Amyotrophic lateral sclerosis onset is influenced by the burden of rare variants in known amyotrophic lateral sclerosis genes.

Anemia, Paresthesias, and Gait Ataxia in a 57-Year-Old Denture Wearer ⬇️

Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines

Artemin, a novel member of the GDNF ligand family, supports peripheral and central neurons and signals through the GFRalpha3-RET receptor complex

Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

Autophagic vacuolar pathology in desminopathies

Burst mitofusin activation reverses neuromuscular dysfunction in murine CMT2A

C9orf72 BAC Transgenic Mice Display Typical Pathologic Features of ALS/FTD

C9orf72 in myeloid cells suppresses STING-induced inflammation

C9orf72 is required for proper macrophage and microglial function in mice

Cell transplantation strategies for acquired and inherited disorders of peripheral myelin

Chronic cough due to Thr124Met mutation in the peripheral myelin protein zero (MPZ gene).

Clinical neurogenetics: amyotrophic lateral sclerosis

Common and rare variant association analyses in Amyotrophic Lateral Sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

Comparison of three congruent patient-specific cell types for the modelling of a human genetic Schwann-cell disorder

Congenital hypomyelinating neuropathy with lethal conduction failure in mice carrying the Egr2 I268N mutation.

Cross-Comparison of Human iPSC Motor Neuron Models of Familial and Sporadic ALS Reveals Early and Convergent Transcriptomic Disease Signatures

Deciphering amyotrophic lateral sclerosis: what phenotype, neuropathology and genetics are telling us about pathogenesis

Dejerine-Sottas syndrome and vestibular loss due to a point mutation in the PMP22 gene

Dominant spinal muscular atrophy with lower extremity predominance: linkage to 14q32.

Dynein mutations associated with hereditary motor neuropathies impair mitochondrial morphology and function with age.

Effect of Ezogabine on Cortical and Spinal Motor Neuron Excitability in Amyotrophic Lateral Sclerosis: A Randomized Clinical Trial

Endolysosomal sorting of ubiquitylated caveolin-1 is regulated by VCP and UBXD1 and impaired by VCP disease mutations

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

Exome sequencing reveals DNAJB6 mutations in dominantly‐inherited myopathy ⬇️

Expression of neurturin, GDNF, and their receptors in the adult mouse CNS.

Familial ALS with extreme phenotypic variability due to the I113T SOD1 mutation

Familial parkinsonism and ophthalmoplegia from a mutation in the mitochondrial DNA helicase twinkle

Frequent atrophic groups with mixed-type myofibers is distinctive to motor neuron syndromes

Functional mapping of receptor specificity domains of glial cell line-derived neurotrophic factor (GDNF) family ligands and production of GFRalpha1 RET-specific agonists

GFRalpha-mediated localization of RET to lipid rafts is required for effective downstream signaling, differentiation, and neuronal survival

GFRalpha1 expression in cells lacking RET is dispensable for organogenesis and nerve regeneration

GFRα3 is an orphan member of the GDNF/neurturin/persephin receptor family ⬇️

Genetic evaluation of inherited muscle diseases.

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

How do the RNA-binding proteins TDP-43 and FUS relate to amyotrophic lateral sclerosis and frontotemporal degeneration, and to each other?

Implications of the prion-related Q/N domains in TDP-43 and FUS ⬇️

Inflammation in ALS/FTD pathogenesis

Interaction with polyglutamine aggregates reveals a Q/N-rich domain in TDP-43.

Lack of C9ORF72 coding mutations supports a gain of function for repeat expansions in amyotrophic lateral sclerosis

Low-Dose Irradiation Enhances Gene Targeting in Human Pluripotent Stem Cells

MFN2 agonists reverse mitochondrial defects in preclinical models of Charcot-Marie-Tooth disease type 2A.

MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs

Microglia and C9orf72 in neuroinflammation and ALS and frontotemporal dementia

Misexpression of Pou3f1 results in peripheral nerve hypomyelination and axonal loss.

Mitochondrial dynamics and peripheral neuropathy

Mitofusin 2 is necessary for transport of axonal mitochondria and interacts with the Miro/Milton complex

Mitofusin2 mutations disrupt axonal mitochondrial positioning and promote axon degeneration

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy ⬇️

Neurturin shares receptors and signal transduction pathways with glial cell line-derived neurotrophic factor in sympathetic neurons

Normal role of the low-molecular-weight neurofilament protein in mitochondrial dynamics and disruption in Charcot-Marie-Tooth disease

Novel GNE mutations in two phenotypically distinct HIBM2 patients ⬇️

Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy

Palatal tremor as a presenting symptom of amyotrophic lateral sclerosis

Patients with ALS show highly correlated progression rates in left and right limb muscles

Persephin, a novel neurotrophic factor related to GDNF and neurturin

Prion-like nuclear aggregation of TDP-43 during heat shock is regulated by HSP40/70 chaperones

Prospective natural history study of C9orf72 ALS clinical characteristics and biomarkers

Restoring mitofusin balance prevents axonal degeneration in a Charcot-Marie-Tooth type 2A model

Revised Airlie House consensus guidelines for design and implementation of ALS clinical trials

Sarcoplasmic redistribution of nuclear TDP-43 in inclusion body myositis

Schwann Cell Mitochondrial Metabolism Supports Long-Term Axonal Survival and Peripheral Nerve Function ⬇️

Sir-two-homolog 2 (Sirt2) modulates peripheral myelination through polarity protein Par-3/atypical protein kinase C (aPKC) signaling

Sizing, stabilising, and cloning repeat-expansions for gene targeting constructs

Stem cell transplantation for amyotrophic lateral sclerosis

Structure of artemin complexed with its receptor GFRalpha3: convergent recognition of glial cell line-derived neurotrophic factors

T Cell-Intrinsic Receptor Interacting Protein 2 Regulates Pathogenic T Helper 17 Cell Differentiation

TDP-43 A315T mutation in familial motor neuron disease

TDP-43 activates microglia through NF-κB and NLRP3 inflammasome.

TDP-43 mutant transgenic mice develop features of ALS and frontotemporal lobar degeneration

TDP-43 proteinopathy in familial motor neurone disease with TARDBP A315T mutation: a case report ⬇️