Lista de obras - T Siddique - Dominio Público Uruguay

A StuI polymorphism on chromosome 3p14.1-14.2 (D3S622) defined by two polymorphic StuI sites 2.4 kb apart.

artículo científico publicado en 1991

A large New England kindred with autosomal dominant neurogenic scapuloperoneal amyotrophy with unique features

artículo científico publicado el 1 de septiembre de 1992

A new tightly linked DNA probe for myotonic dystrophy

artículo científico publicado en 1986

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

artículo científico publicado en 2017

A novel mutation in the sterol 27-hydroxylase gene of a Pakistani family with autosomal recessive cerebrotendinous xanthomatosis

artículo científico publicado en 1997

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

A4T Mutation in the SOD1 Gene Causing Familial Amyotrophic Lateral Sclerosis

article

ACTH (Acthar Gel) Reduces Toxic SOD1 Protein Linked to Amyotrophic Lateral Sclerosis in Transgenic Mice: A Novel Observation

artículo científico publicado en 2015

Age and founder effect of SOD1 A4V mutation causing ALS

artículo científico publicado en 2009

Altered postnatal maturation of electrical properties in spinal motoneurons in a mouse model of amyotrophic lateral sclerosis.

artículo científico publicado en 2011

Alzheimer disease and amyotrophic lateral sclerosis: an etiopathogenic connection

artículo científico publicado en 2013

An investigation of genetic heterogeneity and linkage disequilibrium in 161 families with spinal muscular atrophy

artículo científico publicado en 1994

An unusual case of familial ALS and cerebellar ataxia

scientific article published on 14 June 2010

An α2-Na/K ATPase/α-adducin complex in astrocytes triggers non-cell autonomous neurodegeneration

artículo científico publicado en 2014

Clinicopathologic report of ocular involvement in ALS patients with C9orf72 mutation

artículo científico publicado en 2014

Confirmation of the severe phenotypic effect of serine at codon 41 of the superoxide dismutase 1 gene.

artículo científico publicado en 2011

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

artículo científico publicado en 2006

CuZn-Superoxide Dismutase in D90A Heterozygotes from Recessive and Dominant ALS Pedigrees

artículo científico publicado en 2002

D21S194, a jump clone from D21S16.

artículo científico publicado en 1990

Defining SOD1 ALS natural history to guide therapeutic clinical trial design

artículo científico publicado en 2016

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

Dinucleotide repeat polymorphism at the human erythroid alpha spectrin (SPTA1) locus

artículo científico publicado en 1992

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

article

Discovery of 1,3,4-oxidiazole scaffold compounds as inhibitors of superoxide dismutase expression

artículo científico publicado en 2014

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

Effect of fluoxetine on disease progression in a mouse model of ALS.

artículo científico publicado en 2014

Effect of prolonged riluzole exposure on cultured motoneurons in a mouse model of ALS ⬇️

artículo científico publicado el 19 de octubre de 2011

Effect on weakness and spasticity in amyotrophic lateral sclerosis of thyrotropin-releasing hormone

scientific article published on 01 July 1983

Exclusion of the expansion of CAG/CTG repeats at thirteen loci on chromosome 12 as a candidate genetic mutation in scapuloperoneal spinal muscular atrophy with anticipation

scientific article published on 01 June 1997

Exon 5 encoded domain is not required for the toxic function of mutant SOD1 but essential for the dismutase activity: identification and characterization of two new SOD1 mutations associated with familial amyotrophic lateral sclerosis

artículo científico publicado en 1997

Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3.

artículo científico publicado en 2006

Familial childhood primary lateral sclerosis with associated gaze paresis

artículo científico publicado en 1995

Fine mapping of the X-linked split-hand/split-foot malformation (SHFM2) locus to a 5.1-Mb region on Xq26.3 and analysis of candidate genes.

artículo científico publicado en 2005

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

artículo científico publicado en 2010

Gastrostomy tube placement by endoscopy versus radiologic methods in patients with ALS: a retrospective study of complications and outcome.

artículo científico publicado en 2013

Gene expression analysis of frontotemporal lobar degeneration of the motor neuron disease type with ubiquitinated inclusions.

artículo científico

Genetic and epigenetic studies of amyotrophic lateral sclerosis

artículo científico publicado en 2013

Genetic disorders of motor neurons.

artículo científico publicado en 1999

Genetic studies of autosomal recessive primary microcephaly in 33 Pakistani families: Novel sequence variants in ASPM gene.

artículo científico publicado en 2006

Genomic organization of Tropomodulins 2 and 4 and unusual intergenic and intraexonic splicing of YL-1 and Tropomodulin 4

artículo científico publicado en 2001

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

Hyperexcitability of cultured spinal motoneurons from presymptomatic ALS mice.

artículo científico publicado en 2003

Identification of TMEM230 mutations in familial Parkinson's disease

scientific journal article

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

Increased persistent Na(+) current and its effect on excitability in motoneurones cultured from mutant SOD1 mice.

artículo científico publicado en 2005

Increased reactive oxygen species in familial amyotrophic lateral sclerosis with mutations in SOD1.

artículo científico publicado en 2000

Informatics-assisted protein profiling in a transgenic mouse model of amyotrophic lateral sclerosis.

artículo científico

Inherited deletion at Duchenne dystrophy locus in normal male

scientific article published on 01 March 1989

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

artículo científico publicado en 1996

Intracellular calcium parallels motoneuron degeneration in SOD-1 mutant mice.

artículo científico publicado en 1998

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

artículo científico publicado en 2012

Linkage of 'pure' autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity.

artículo científico publicado en 1994

Linkage of a gene causing familial amyotrophic lateral sclerosis to chromosome 21 and evidence of genetic-locus heterogeneity

artículo científico publicado en 1991

Linkage of familial amyotrophic lateral sclerosis with frontotemporal dementia to chromosome 9q21-q22

scientific article published on 01 October 2000

Making connections: pathology and genetics link amyotrophic lateral sclerosis with frontotemporal lobe dementia.

artículo científico publicado en 2011

Meta-analysis of vascular endothelial growth factor variations in amyotrophic lateral sclerosis: increased susceptibility in male carriers of the -2578AA genotype

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

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

artículo científico publicado en 2008

Mspl RFLP for microtubule associated protein-2 (MAP2) ⬇️

artículo científico publicado el 25 de febrero de 1991

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 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

Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis

artículo científico publicado en 2009

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

artículo científico publicado en 2017

Oculomotor involvement in myotonic dystrophy type 2.

artículo científico publicado en 2008

Pathological TDP-43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations.

artículo científico publicado en 2007

Prevalence and characteristics of pain in early and late stages of ALS.

artículo científico publicado en 2013

Prognosis in familial amyotrophic lateral sclerosis: progression and survival in patients with glu100gly and ala4val mutations in Cu,Zn superoxide dismutase

scientific article published on 01 January 1997

Progressive changes in synaptic inputs to motoneurons in adult sacral spinal cord of a mouse model of amyotrophic lateral sclerosis

artículo científico publicado en 2009

Protein recycling pathways in neurodegenerative diseases

artículo científico

RFLP for Duchenne muscular dystrophy cDNA clone 30-2.

artículo científico publicado en 1988

RFLP for Duchenne muscular dystrophy cDNA clone 44-1.

artículo científico publicado en 1988

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

artículo científico publicado en 2011

Respiratory Pattern and Tidal Volumes Differ for Pressure Support and Volume-assured Pressure Support in Amyotrophic Lateral Sclerosis.

artículo científico publicado en 2017

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

scientific article published on 23 October 2007

SIGMAR1 mutations, genetic heterogeneity at the chromosome 9p locus, and the expanding etiological diversity of amyotrophic lateral sclerosis

scientific article published on 01 December 2011

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

Sporadic and hereditary amyotrophic lateral sclerosis (ALS).

artículo científico publicado en 2014

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 poliovirus sensitivity (PVS) gene is on chromosome 19q12----q13.2.

artículo científico publicado en 1988

Transgenic mouse models and human neurodegenerative disorders.

artículo científico publicado en 2000

Two families with familial amyotrophic lateral sclerosis are linked to a novel locus on chromosome 16q.

artículo científico publicado en 2003

Two novel SOD1 mutations in patients with familial amyotrophic lateral sclerosis

article

UBQLN2/P62 cellular recycling pathways in amyotrophic lateral sclerosis and frontotemporal dementia ⬇️

artículo científico publicado el 1 de febrero de 2012

What is missing in ALS

artículo científico publicado en 2008

What is repeated in ALS and FTLD

scientific article published on 07 December 2011

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

artículo científico publicado en 2009

Lista de obras de T Siddique

A StuI polymorphism on chromosome 3p14.1-14.2 (D3S622) defined by two polymorphic StuI sites 2.4 kb apart.

A large New England kindred with autosomal dominant neurogenic scapuloperoneal amyotrophy with unique features

A new tightly linked DNA probe for myotonic dystrophy

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

A novel mutation in the sterol 27-hydroxylase gene of a Pakistani family with autosomal recessive cerebrotendinous xanthomatosis

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

A4T Mutation in the SOD1 Gene Causing Familial Amyotrophic Lateral Sclerosis

ACTH (Acthar Gel) Reduces Toxic SOD1 Protein Linked to Amyotrophic Lateral Sclerosis in Transgenic Mice: A Novel Observation

Age and founder effect of SOD1 A4V mutation causing ALS

Altered postnatal maturation of electrical properties in spinal motoneurons in a mouse model of amyotrophic lateral sclerosis.

Alzheimer disease and amyotrophic lateral sclerosis: an etiopathogenic connection

An investigation of genetic heterogeneity and linkage disequilibrium in 161 families with spinal muscular atrophy

An unusual case of familial ALS and cerebellar ataxia

An α2-Na/K ATPase/α-adducin complex in astrocytes triggers non-cell autonomous neurodegeneration

Clinicopathologic report of ocular involvement in ALS patients with C9orf72 mutation

Confirmation of the severe phenotypic effect of serine at codon 41 of the superoxide dismutase 1 gene.

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

CuZn-Superoxide Dismutase in D90A Heterozygotes from Recessive and Dominant ALS Pedigrees

D21S194, a jump clone from D21S16.

Defining SOD1 ALS natural history to guide therapeutic clinical trial design

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

Dinucleotide repeat polymorphism at the human erythroid alpha spectrin (SPTA1) locus

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

Discovery of 1,3,4-oxidiazole scaffold compounds as inhibitors of superoxide dismutase expression

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

Effect of fluoxetine on disease progression in a mouse model of ALS.

Effect of prolonged riluzole exposure on cultured motoneurons in a mouse model of ALS ⬇️

Effect on weakness and spasticity in amyotrophic lateral sclerosis of thyrotropin-releasing hormone

Exclusion of the expansion of CAG/CTG repeats at thirteen loci on chromosome 12 as a candidate genetic mutation in scapuloperoneal spinal muscular atrophy with anticipation

Exon 5 encoded domain is not required for the toxic function of mutant SOD1 but essential for the dismutase activity: identification and characterization of two new SOD1 mutations associated with familial amyotrophic lateral sclerosis

Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3.

Familial childhood primary lateral sclerosis with associated gaze paresis

Fine mapping of the X-linked split-hand/split-foot malformation (SHFM2) locus to a 5.1-Mb region on Xq26.3 and analysis of candidate genes.

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

Gastrostomy tube placement by endoscopy versus radiologic methods in patients with ALS: a retrospective study of complications and outcome.

Gene expression analysis of frontotemporal lobar degeneration of the motor neuron disease type with ubiquitinated inclusions.

Genetic and epigenetic studies of amyotrophic lateral sclerosis

Genetic disorders of motor neurons.

Genetic studies of autosomal recessive primary microcephaly in 33 Pakistani families: Novel sequence variants in ASPM gene.

Genomic organization of Tropomodulins 2 and 4 and unusual intergenic and intraexonic splicing of YL-1 and Tropomodulin 4

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

Hyperexcitability of cultured spinal motoneurons from presymptomatic ALS mice.

Identification of TMEM230 mutations in familial Parkinson's disease

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.

Increased persistent Na(+) current and its effect on excitability in motoneurones cultured from mutant SOD1 mice.

Increased reactive oxygen species in familial amyotrophic lateral sclerosis with mutations in SOD1.

Informatics-assisted protein profiling in a transgenic mouse model of amyotrophic lateral sclerosis.

Inherited deletion at Duchenne dystrophy locus in normal male

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

Intracellular calcium parallels motoneuron degeneration in SOD-1 mutant mice.

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

Linkage of 'pure' autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity.

Linkage of a gene causing familial amyotrophic lateral sclerosis to chromosome 21 and evidence of genetic-locus heterogeneity

Linkage of familial amyotrophic lateral sclerosis with frontotemporal dementia to chromosome 9q21-q22

Making connections: pathology and genetics link amyotrophic lateral sclerosis with frontotemporal lobe dementia.

Meta-analysis of vascular endothelial growth factor variations in amyotrophic lateral sclerosis: increased susceptibility in male carriers of the -2578AA genotype

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.

Mspl RFLP for microtubule associated protein-2 (MAP2) ⬇️

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

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

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

Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis

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

Oculomotor involvement in myotonic dystrophy type 2.

Pathological TDP-43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations.

Prevalence and characteristics of pain in early and late stages of ALS.

Prognosis in familial amyotrophic lateral sclerosis: progression and survival in patients with glu100gly and ala4val mutations in Cu,Zn superoxide dismutase

Progressive changes in synaptic inputs to motoneurons in adult sacral spinal cord of a mouse model of amyotrophic lateral sclerosis

Protein recycling pathways in neurodegenerative diseases

RFLP for Duchenne muscular dystrophy cDNA clone 30-2.

RFLP for Duchenne muscular dystrophy cDNA clone 44-1.

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