Lista de obras - Han-Xiang Deng - Dominio Público Uruguay

A Simple and Efficient Amplification Method of DNA with Unknown Sequences and Its Application to Microdissection/Microcloning1

artículo científico publicado en 1992

A novel ALS-associated variant in UBQLN4 regulates motor axon morphogenesis

artículo científico publicado en 2017

A novel locus (DSAP2) for disseminated superficial actinic porokeratosis maps to chromosome 15q25.1-26.1

scientific article published on 01 October 2002

A rare Cu/Zn superoxide dismutase mutation causing familial amyotrophic lateral sclerosis with variable age of onset, incomplete penetrance and a sensory neuropathy

artículo científico publicado en 2003

A reliable method for obtaining high-resolution banded chromosome preparations from chorionic villus samples

Alzheimer disease and amyotrophic lateral sclerosis: an etiopathogenic connection

artículo científico publicado en 2013

Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase

artículo científico publicado en 1993

Assignment of mitotic arrest deficient protein 2 (MAD2L1) to human chromosome band 5q23.3 by in situ hybridization

artículo científico publicado en 1997

Chromosome-band-specific painting: chromosome in situ suppression hybridization using PCR products from a microdissected chromosome band as a probe pool.

artículo científico publicado en 1992

Clinicopathologic report of ocular involvement in ALS patients with C9orf72 mutation

artículo científico publicado en 2014

Confirmation and refinement of a genetic locus for disseminated superficial actinic porokeratosis (DSAP1) at 12q23.2-24.1

Conversion to the amyotrophic lateral sclerosis phenotype is associated with intermolecular linked insoluble aggregates of SOD1 in mitochondria

artículo científico publicado en 2006

Dendritic spinopathy in transgenic mice expressing ALS/dementia-linked mutant UBQLN2.

artículo científico publicado en 2014

Detection of Protein Aggregation in Neurodegenerative Diseases

Differential involvement of optineurin in amyotrophic lateral sclerosis with or without SOD1 mutations

artículo científico publicado en 2011

Discovering the connection between familial and sporadic amyotrophic lateral sclerosis: pathology trumps genetics

article

Distal axonopathy in an alsin-deficient mouse model

article

Disulfide cross-linked protein represents a significant fraction of ALS-associated Cu, Zn-superoxide dismutase aggregates in spinal cords of model mice

artículo científico publicado en 2006

Early Impairment of Synaptic and Intrinsic Excitability in Mice Expressing ALS/Dementia-Linked Mutant UBQLN2

artículo científico publicado en 2016

Efficacy and long-term safety of CRISPR/Cas9 genome editing in the SOD1-linked mouse models of ALS

artículo científico publicado en 2021

Exome Sequencing of a Pedigree Reveals S339L Mutation in the TLN2 Gene as a Cause of Fifth Finger Camptodactyly

artículo científico publicado en 2016

FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration

artículo científico publicado en 2010

Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS/dementia

artículo científico publicado en 2010

Human Genetic Diseases

artículo científico publicado en 2015

Hyperactive intracellular calcium signaling associated with localized mitochondrial defects in skeletal muscle of an animal model of amyotrophic lateral sclerosis

artículo científico publicado en 2009

Identification of TMEM230 mutations in familial Parkinson's disease

scientific journal article

Incidence and Clinical Features of TRPV4-Linked Axonal Neuropathies in a USA Cohort of Charcot-Marie-Tooth Disease Type 2

artículo científico publicado en 2019

Inclusions in frontotemporal lobar degeneration with TDP-43 proteinopathy (FTLD-TDP) and amyotrophic lateral sclerosis (ALS), but not FTLD with FUS proteinopathy (FTLD-FUS), have properties of amyloid.

artículo científico publicado en 2013

Intense superoxide dismutase-1 immunoreactivity in intracytoplasmic hyaline inclusions of familial amyotrophic lateral sclerosis with posterior column involvement

artículo científico publicado en 1996

Iron accumulation in deep cortical layers accounts for MRI signal abnormalities in ALS: correlating 7 tesla MRI and pathology.

artículo científico publicado en 2012

Isolation of 24 novel cDNA fragments from microdissected human chromosome band.

artículo científico publicado en 1998

Lack of association of VEGF promoter polymorphisms with sporadic ALS

artículo científico publicado en 2006

Marked accumulation of 27-hydroxycholesterol in SPG5 patients with hereditary spastic paresis

artículo científico publicado en 2009

Microdissection of human chromosomal regions 8q23.3–q24.11 and 2q33-qter: Construction of DNA libraries and isolation of their clones ⬇️

artículo científico publicado el 1 de junio de 1992

Molecular dissection of ALS-associated toxicity of SOD1 in transgenic mice using an exon-fusion approach.

artículo científico publicado en 2008

Molecular dissection of ALS-associated toxicity of SOD1 in transgenic mice using an exon-fusion approach.

artículo científico publicado en 2008

Motor neuron degeneration in mice that express a human Cu,Zn superoxide dismutase mutation

artículo científico publicado en 1994

Multiple transcripts of the human Cu,Zn superoxide dismutase gene.

artículo científico publicado en 2000

Mutant TRPV4-mediated toxicity is linked to increased constitutive function in axonal neuropathies.

artículo científico publicado en 2011

Mutation analysis of hereditary multiple exostoses in the Chinese

artículo científico publicado en 1999

Mutation in the novel nuclear-encoded mitochondrial protein CHCHD10 in a family with autosomal dominant mitochondrial myopathy.

artículo científico publicado en 2014

Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis

artículo científico publicado en 1993

Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia

artículo científico publicado en 2011

Nuclear export of misfolded SOD1 mediated by a normally buried NES-like sequence reduces proteotoxicity in the nucleus.

artículo científico publicado en 2017

Parental origin and mechanism of formation of X chromosome structural abnormalities: Four cases determined with RFLPs

Parental origin and mechanism of formation of polysomy X: an XXXXX case and four XXXXY cases determined with RFLPs ⬇️

artículo científico publicado el 1 de abril de 1991

Penta X syndrome: a case report with review of the literature.

scientific article published on July 1991

Possible mapping of the gene for transient myeloproliferative syndrome at 21q11.2 ⬇️

artículo científico publicado el 1 de septiembre de 1991

Recent advances in the genetics of hereditary axonal sensory-motor neuropathies type 2.

artículo científico publicado en 2011

Reply to ‘TMEM230 variants in Parkinson’s disease’ and ‘Doubts about TMEM230 as a gene for parkinsonism’

artículo científico publicado en 2019

Restricted expression of mutant SOD1 in spinal motor neurons and interneurons induces motor neuron pathology

scientific article published on 23 October 2007

SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis

article

Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4.

artículo científico publicado en 2009

Sirt3 protects dopaminergic neurons from mitochondrial oxidative stress

artículo científico publicado en 2017

TDP-43 pathology in primary progressive aphasia and frontotemporal dementia with pathologic Alzheimer disease

artículo científico publicado en 2010

TRPV4 mutations and cytotoxic hypercalcemia in axonal Charcot-Marie-Tooth neuropathies.

artículo científico publicado en 2011

The D90A mutation results in a polymorphism of Cu, Zn superoxide dismutase that is prevalent in northern Sweden and Finland

article

The Parkinson's disease-linked protein TMEM230 is required for Rab8a-mediated secretory vesicle trafficking and retromer trafficking.

artículo científico publicado en 2017

The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis

artículo científico publicado en 2001

The gene for mesomelic dysplasia Kantaputra type is mapped to chromosome 2q24-q32 ⬇️

artículo científico publicado el 1 de enero de 1998

Transgenic mouse models and human neurodegenerative disorders.

artículo científico publicado en 2000

Two novel SOD1 mutations in patients with familial amyotrophic lateral sclerosis

article

Wild-type SOD1 overexpression accelerates disease onset of a G85R SOD1 mouse.

artículo científico publicado en 2009

Lista de obras de Han-Xiang Deng

A Simple and Efficient Amplification Method of DNA with Unknown Sequences and Its Application to Microdissection/Microcloning1

A novel ALS-associated variant in UBQLN4 regulates motor axon morphogenesis

A novel locus (DSAP2) for disseminated superficial actinic porokeratosis maps to chromosome 15q25.1-26.1

A rare Cu/Zn superoxide dismutase mutation causing familial amyotrophic lateral sclerosis with variable age of onset, incomplete penetrance and a sensory neuropathy

A reliable method for obtaining high-resolution banded chromosome preparations from chorionic villus samples

Alzheimer disease and amyotrophic lateral sclerosis: an etiopathogenic connection

Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase

Assignment of mitotic arrest deficient protein 2 (MAD2L1) to human chromosome band 5q23.3 by in situ hybridization

Chromosome-band-specific painting: chromosome in situ suppression hybridization using PCR products from a microdissected chromosome band as a probe pool.

Clinicopathologic report of ocular involvement in ALS patients with C9orf72 mutation

Confirmation and refinement of a genetic locus for disseminated superficial actinic porokeratosis (DSAP1) at 12q23.2-24.1

Conversion to the amyotrophic lateral sclerosis phenotype is associated with intermolecular linked insoluble aggregates of SOD1 in mitochondria

Dendritic spinopathy in transgenic mice expressing ALS/dementia-linked mutant UBQLN2.

Detection of Protein Aggregation in Neurodegenerative Diseases

Differential involvement of optineurin in amyotrophic lateral sclerosis with or without SOD1 mutations

Discovering the connection between familial and sporadic amyotrophic lateral sclerosis: pathology trumps genetics

Distal axonopathy in an alsin-deficient mouse model

Disulfide cross-linked protein represents a significant fraction of ALS-associated Cu, Zn-superoxide dismutase aggregates in spinal cords of model mice

Early Impairment of Synaptic and Intrinsic Excitability in Mice Expressing ALS/Dementia-Linked Mutant UBQLN2

Efficacy and long-term safety of CRISPR/Cas9 genome editing in the SOD1-linked mouse models of ALS

Exome Sequencing of a Pedigree Reveals S339L Mutation in the TLN2 Gene as a Cause of Fifth Finger Camptodactyly

FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration

Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS/dementia

Human Genetic Diseases

Hyperactive intracellular calcium signaling associated with localized mitochondrial defects in skeletal muscle of an animal model of amyotrophic lateral sclerosis

Identification of TMEM230 mutations in familial Parkinson's disease

Incidence and Clinical Features of TRPV4-Linked Axonal Neuropathies in a USA Cohort of Charcot-Marie-Tooth Disease Type 2

Inclusions in frontotemporal lobar degeneration with TDP-43 proteinopathy (FTLD-TDP) and amyotrophic lateral sclerosis (ALS), but not FTLD with FUS proteinopathy (FTLD-FUS), have properties of amyloid.

Intense superoxide dismutase-1 immunoreactivity in intracytoplasmic hyaline inclusions of familial amyotrophic lateral sclerosis with posterior column involvement

Iron accumulation in deep cortical layers accounts for MRI signal abnormalities in ALS: correlating 7 tesla MRI and pathology.

Isolation of 24 novel cDNA fragments from microdissected human chromosome band.

Lack of association of VEGF promoter polymorphisms with sporadic ALS

Marked accumulation of 27-hydroxycholesterol in SPG5 patients with hereditary spastic paresis

Microdissection of human chromosomal regions 8q23.3–q24.11 and 2q33-qter: Construction of DNA libraries and isolation of their clones ⬇️

Molecular dissection of ALS-associated toxicity of SOD1 in transgenic mice using an exon-fusion approach.

Molecular dissection of ALS-associated toxicity of SOD1 in transgenic mice using an exon-fusion approach.

Motor neuron degeneration in mice that express a human Cu,Zn superoxide dismutase mutation

Multiple transcripts of the human Cu,Zn superoxide dismutase gene.

Mutant TRPV4-mediated toxicity is linked to increased constitutive function in axonal neuropathies.

Mutation analysis of hereditary multiple exostoses in the Chinese

Mutation in the novel nuclear-encoded mitochondrial protein CHCHD10 in a family with autosomal dominant mitochondrial myopathy.

Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis

Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia

Nuclear export of misfolded SOD1 mediated by a normally buried NES-like sequence reduces proteotoxicity in the nucleus.

Parental origin and mechanism of formation of X chromosome structural abnormalities: Four cases determined with RFLPs

Parental origin and mechanism of formation of polysomy X: an XXXXX case and four XXXXY cases determined with RFLPs ⬇️

Penta X syndrome: a case report with review of the literature.

Possible mapping of the gene for transient myeloproliferative syndrome at 21q11.2 ⬇️

Recent advances in the genetics of hereditary axonal sensory-motor neuropathies type 2.

Reply to ‘TMEM230 variants in Parkinson’s disease’ and ‘Doubts about TMEM230 as a gene for parkinsonism’

Restricted expression of mutant SOD1 in spinal motor neurons and interneurons induces motor neuron pathology

SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis

Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4.

Sirt3 protects dopaminergic neurons from mitochondrial oxidative stress

TDP-43 pathology in primary progressive aphasia and frontotemporal dementia with pathologic Alzheimer disease

TRPV4 mutations and cytotoxic hypercalcemia in axonal Charcot-Marie-Tooth neuropathies.

The D90A mutation results in a polymorphism of Cu, Zn superoxide dismutase that is prevalent in northern Sweden and Finland

The Parkinson's disease-linked protein TMEM230 is required for Rab8a-mediated secretory vesicle trafficking and retromer trafficking.

The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis

The gene for mesomelic dysplasia Kantaputra type is mapped to chromosome 2q24-q32 ⬇️

Transgenic mouse models and human neurodegenerative disorders.

Two novel SOD1 mutations in patients with familial amyotrophic lateral sclerosis

Wild-type SOD1 overexpression accelerates disease onset of a G85R SOD1 mouse.