Lista de obras - Jean-Pierre Bouchard - Dominio Público Uruguay

50bp deletion in the promoter for superoxide dismutase 1 (SOD1) reduces SOD1 expression in vitro and may correlate with increased age of onset of sporadic amyotrophic lateral sclerosis

article

A Founder Mutation in French-Canadian Families with X-linked Hereditary Neuropathy

artículo científico publicado en 2001

A frameshift deletion in peripherin gene associated with amyotrophic lateral sclerosis

artículo científico publicado en 2004

A full genome search in multiple sclerosis

article

A new autosomal recessive spastic ataxia associated with frequent white matter changes maps to 2q33-34.

artículo científico publicado en 2006

A novel autosomal recessive limb-girdle muscular dystrophy with quadriceps atrophy maps to 11p13-p12.

artículo científico publicado en 2006

A novel duplication confirms the involvement of 5q23.2 in autosomal dominant leukodystrophy

artículo científico publicado en 2008

ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF

artículo científico publicado en 2000

Analysis of the SORT1 gene in familial amyotrophic lateral sclerosis

artículo científico publicado en 2012

André Barbeau and the oculopharyngeal muscular dystrophy in French Canada and North America ⬇️

artículo científico publicado el 1 de octubre de 1997

Anti-CNS antibodies in neurological and psychiatric disorders

artículo científico publicado en 1987

Assessment of a symptomatic Duchenne muscular dystrophy carrier 20 years after myoblast transplantation from her asymptomatic identical twin sister

artículo científico publicado en 2013

Autosomal dominant primary lateral sclerosis

artículo científico publicado en 2007

Autosomal recessive spastic ataxia of Charlevoix-Saguenay

artículo científico publicado en 1978

Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a report of MR imaging in 5 patients

artículo científico publicado en 2007

Autosomal recessive spastic ataxia of Charlevoix–Saguenay

article published in 1998

Chromogranin B P413L variant as risk factor and modifier of disease onset for amyotrophic lateral sclerosis

artículo científico publicado en 2009

Clinical and electrophysiological study in French-Canadian population with Charcot-Marie-tooth disease type 1A associated with 17p11.2 duplication

artículo científico publicado en 1999

Clinical and genetic study of autosomal recessive cerebellar ataxia type 1.

artículo científico publicado en 2007

Clinical and molecular genetic studies on autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).

artículo científico publicado en 1993

Clinical presentation and early evolution of spastic ataxia of Charlevoix-Saguenay

Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians

artículo científico publicado en 2008

Cognitive impairment and reduced life span of oculopharyngeal muscular dystrophy homozygotes

artículo científico publicado en 2009

Cognitive impairment in ARCA-1, a newly discovered pure cerebellar ataxia syndrome

artículo científico publicado en 2010

Correction of instrument line shape in Fourier transform spectrometry using matrix inversion

artículo científico publicado en 2006

Correspondence Section: Myoblast transplantation produced dystrophin-positive muscle fibres in a 16-year-old patient with Duchenne muscular dystrophy ⬇️

artículo científico publicado el 1 de agosto de 1991

DOK7 mutations presenting as a proximal myopathy in French Canadians

artículo científico publicado en 2010

Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis

artículo científico publicado en 2014

Development of traceable measurement of the diffuse optical properties of solid reference standards for biomedical optics at National Institute of Standards and Technology

artículo científico publicado en 2015

Diversity of ARSACS mutations in French-Canadians

artículo científico publicado en 2013

Double-integrating-sphere system at the National Institute of Standards and Technology in support of measurement standards for the determination of optical properties of tissue-mimicking phantoms

artículo científico publicado en 2015

Dystrophin expression in muscles of duchenne muscular dystrophy patients after high-density injections of normal myogenic cells.

artículo científico publicado en 2006

Dystrophin expression in myofibers of Duchenne muscular dystrophy patients following intramuscular injections of normal myogenic cells

artículo científico publicado en 2004

Dystrophin-like immunoreactivity in monkey and human brain areas involved in learning and motor functions ⬇️

artículo científico publicado el 20 de julio de 1992

Early detection of structural abnormalities and cytoplasmic accumulation of TDP-43 in tissue-engineered skins derived from ALS patients

artículo científico publicado en 2015

Effect of liposomal confinement on photochemical properties of photosensitizers with varying hydrophilicity

artículo científico publicado en 2008

Effect of liposomal confinement on photothermal and photo-oximetric fluorescence lifetimes of photosensitizers with varying hydrophilicity.

artículo científico publicado en 2008

Efficacy and tolerability of a 20-mg dose of methylphenidate for the treatment of daytime sleepiness in adult patients with myotonic dystrophy type 1: a 2-center, randomized, double-blind, placebo-controlled, 3-week crossover trial

artículo científico

Eosinophilic fasciitis occurring under treatment with natalizumab for multiple sclerosis

artículo científico publicado en 2014

Familial periodic ataxia responsive to acetazolamide

artículo científico publicado en 1984

Fine mapping the candidate region for peripheral neuropathy with or without agenesis of the corpus callosum in the French Canadian population.

artículo científico publicado en 2002

Founder mutation for α-sarcoglycan-LGMD2D in a Magdalen Islands Acadian cluster

artículo científico publicado en 2011

Friedreich's ataxia: preliminary results of some genealogical research

artículo científico publicado en 1976

Genealogical study of oculopharyngeal dystrophy at Saguenay-Lac-St-Jean, Quebec, Canada

artículo científico publicado el 1 de enero de 1992

Genetic susceptibility to MS: a second stage analysis in Canadian MS families

artículo científico publicado en 2001

HLA and complement typing in olivo-ponto-cerebellar atrophy

artículo científico publicado el 1 de febrero de 1978

Hereditary ataxia, spastic paraparesis and neuropathy in the French-Canadian population

artículo científico publicado en 2006

Hereditary motor and sensory neuropathy with agenesis of the corpus callosum

artículo científico publicado en 2003

Human myoblast transplantation between immunohistocompatible donors and recipients produces immune reactions

artículo científico publicado el 1 de diciembre de 1992

Human myoblast transplantation: preliminary results of 4 cases

artículo científico publicado el 1 de mayo de 1992

Identification of novelFUSmutations in sporadic cases of amyotrophic lateral sclerosis ⬇️

artículo científico publicado el 24 de enero de 2011

Infant mortality in myotonic dystrophy in Saguenay-Lac-St-Jean: a historical perspective

artículo científico publicado en 1993

Intravascular lymphoma with conus medullaris syndrome followed by encephalopathy

artículo científico publicado en 2008

K-Cl cotransport in red blood cells from patients with KCC3 isoform mutants

artículo científico publicado en 2006

KCC3 loss-of-function contributes to Andermann syndrome by inducing activity-dependent neuromuscular junction defects

article

Location score and haplotype analyses of the locus for autosomal recessive spastic ataxia of Charlevoix-Saguenay, in chromosome region 13q11.

artículo científico publicado en 1999

Long-term safety and efficacy of teriflunomide: Nine-year follow-up of the randomized TEMSO study

artículo científico publicado en 2016

Matrix form for the instrument line shape of Fourier-transform spectrometers yielding a fast integration algorithm to theoretical spectra

artículo científico publicado en 2006

Mutation screening of the ALS2 gene in sporadic and familial amyotrophic lateral sclerosis

artículo científico publicado en 2003

Mutational analysis of glycyl-tRNA synthetase (GARS) gene in Hirayama disease

artículo científico publicado en 2010

Mutations in FUS cause FALS and SALS in French and French Canadian populations

artículo científico publicado en 2009

Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia

artículo científico publicado en 2006

Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy

artículo científico publicado en 2005

Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans

artículo científico publicado en 2012

Nerve conduction studies and electromyography in Friedreich's ataxia

artículo científico publicado el 1 de noviembre de 1976

Nuclear inclusions in oculopharyngeal muscular dystrophy in Quebec.

artículo científico publicado en 1989

Oculopharyngeal MD among Bukhara Jews is due to a founder (GCG)9 mutation in the PABP2 gene

artículo científico publicado en 2000

Oculopharyngeal muscular dystrophy

artículo científico publicado en 1999

Origin of Friedreich's disease in Quebec

artículo científico publicado en 1984

PABPN1 overexpression leads to upregulation of genes encoding nuclear proteins that are sequestered in oculopharyngeal muscular dystrophy nuclear inclusions.

artículo científico publicado en 2005

Plasma Lipids and Lipoproteins in Friedreich's Ataxia and Familial Spastic Ataxia — Evidence for an Abnormal Composition of High Density Lipoproteins ⬇️

artículo científico publicado el 1 de febrero de 1978

Progressive multifocal leucoencephalopathy. Observation with predominant pontocerebellar lesions and association with congenital immune deficiency

artículo científico publicado el 16 de mayo de 1977

Randomized study of once-weekly interferon beta-1la therapy in relapsing multiple sclerosis: three-year data from the OWIMS study

artículo científico publicado en 2005

Rapid detection of the sacsin mutations causing autosomal recessive spastic ataxia of Charlevoix-Saguenay

artículo científico publicado en 2001

Reference optical phantoms for diffuse optical spectroscopy. Part 1--Error analysis of a time resolved transmittance characterization method

artículo científico publicado en 2010

Replication study of MATR3 in familial and sporadic amyotrophic lateral sclerosis

artículo científico publicado en 2015

Results of a triple blind clinical study of myoblast transplantations without immunosuppressive treatment in young boys with Duchenne muscular dystrophy.

artículo científico publicado en 1993

SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases

artículo científico publicado en 2015

SYNE1 mutations in autosomal recessive cerebellar ataxia

artículo científico publicado en 2013

Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy

artículo científico publicado en 1998

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

artículo científico publicado en 2008

The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum

artículo científico publicado en 2002

The Virtual Peg Insertion Test as an assessment of upper limb coordination in ARSACS patients: a pilot study.

artículo científico publicado en 2014

The gene responsible for a severe form of peripheral neuropathy and agenesis of the corpus callosum maps to chromosome 15q

artículo científico publicado en 1996

The oculopharyngeal muscular dystrophy locus maps to the region of the cardiac alpha and beta myosin heavy chain genes on chromosome 14q11.2-q13

artículo científico publicado en 1995

Therapeutic limits on an extreme psychiatric unit

artículo científico publicado en 2009

Three families with amyotrophic lateral sclerosis and frontotemporal dementia with evidence of linkage to chromosome 9p.

artículo científico publicado en 2007

Toward an automated method for optical coherence tomography characterization

artículo científico publicado en 2015

Transgenic expression of an expanded (GCG)13 repeat PABPN1 leads to weakness and coordination defects in mice

artículo científico publicado en 2005

Tremor-ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3-10q23.31.

artículo científico publicado en 2010

Utility of short-latency evoked potentials in the classification of progressive, early onset cerebellar ataxias

artículo científico

[Court-ordered therapy, a measure for preventing reoffending].

artículo científico publicado en 2017

[Hereditary ataxias, spastic parapareses and neuropathies in Eastern Canada].

artículo científico publicado en 2008

[Therapeutic approaches in court-ordered therapy].

artículo científico publicado en 2017

[Treating patients on the court-ordered therapy programme].

artículo científico publicado en 2017

Lista de obras de Jean-Pierre Bouchard

50bp deletion in the promoter for superoxide dismutase 1 (SOD1) reduces SOD1 expression in vitro and may correlate with increased age of onset of sporadic amyotrophic lateral sclerosis

A Founder Mutation in French-Canadian Families with X-linked Hereditary Neuropathy

A frameshift deletion in peripherin gene associated with amyotrophic lateral sclerosis

A full genome search in multiple sclerosis

A new autosomal recessive spastic ataxia associated with frequent white matter changes maps to 2q33-34.

A novel autosomal recessive limb-girdle muscular dystrophy with quadriceps atrophy maps to 11p13-p12.

A novel duplication confirms the involvement of 5q23.2 in autosomal dominant leukodystrophy

ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF

Analysis of the SORT1 gene in familial amyotrophic lateral sclerosis

André Barbeau and the oculopharyngeal muscular dystrophy in French Canada and North America ⬇️

Anti-CNS antibodies in neurological and psychiatric disorders

Assessment of a symptomatic Duchenne muscular dystrophy carrier 20 years after myoblast transplantation from her asymptomatic identical twin sister

Autosomal dominant primary lateral sclerosis

Autosomal recessive spastic ataxia of Charlevoix-Saguenay

Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a report of MR imaging in 5 patients

Autosomal recessive spastic ataxia of Charlevoix–Saguenay

Chromogranin B P413L variant as risk factor and modifier of disease onset for amyotrophic lateral sclerosis

Clinical and electrophysiological study in French-Canadian population with Charcot-Marie-tooth disease type 1A associated with 17p11.2 duplication

Clinical and genetic study of autosomal recessive cerebellar ataxia type 1.

Clinical and molecular genetic studies on autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).

Clinical presentation and early evolution of spastic ataxia of Charlevoix-Saguenay

Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians

Cognitive impairment and reduced life span of oculopharyngeal muscular dystrophy homozygotes

Cognitive impairment in ARCA-1, a newly discovered pure cerebellar ataxia syndrome

Correction of instrument line shape in Fourier transform spectrometry using matrix inversion

Correspondence Section: Myoblast transplantation produced dystrophin-positive muscle fibres in a 16-year-old patient with Duchenne muscular dystrophy ⬇️

DOK7 mutations presenting as a proximal myopathy in French Canadians

Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis

Development of traceable measurement of the diffuse optical properties of solid reference standards for biomedical optics at National Institute of Standards and Technology

Diversity of ARSACS mutations in French-Canadians

Double-integrating-sphere system at the National Institute of Standards and Technology in support of measurement standards for the determination of optical properties of tissue-mimicking phantoms

Dystrophin expression in muscles of duchenne muscular dystrophy patients after high-density injections of normal myogenic cells.

Dystrophin expression in myofibers of Duchenne muscular dystrophy patients following intramuscular injections of normal myogenic cells

Dystrophin-like immunoreactivity in monkey and human brain areas involved in learning and motor functions ⬇️

Early detection of structural abnormalities and cytoplasmic accumulation of TDP-43 in tissue-engineered skins derived from ALS patients

Effect of liposomal confinement on photochemical properties of photosensitizers with varying hydrophilicity

Effect of liposomal confinement on photothermal and photo-oximetric fluorescence lifetimes of photosensitizers with varying hydrophilicity.

Efficacy and tolerability of a 20-mg dose of methylphenidate for the treatment of daytime sleepiness in adult patients with myotonic dystrophy type 1: a 2-center, randomized, double-blind, placebo-controlled, 3-week crossover trial

Eosinophilic fasciitis occurring under treatment with natalizumab for multiple sclerosis

Familial periodic ataxia responsive to acetazolamide

Fine mapping the candidate region for peripheral neuropathy with or without agenesis of the corpus callosum in the French Canadian population.

Founder mutation for α-sarcoglycan-LGMD2D in a Magdalen Islands Acadian cluster

Friedreich's ataxia: preliminary results of some genealogical research

Genealogical study of oculopharyngeal dystrophy at Saguenay-Lac-St-Jean, Quebec, Canada

Genetic susceptibility to MS: a second stage analysis in Canadian MS families

HLA and complement typing in olivo-ponto-cerebellar atrophy

Hereditary ataxia, spastic paraparesis and neuropathy in the French-Canadian population

Hereditary motor and sensory neuropathy with agenesis of the corpus callosum

Human myoblast transplantation between immunohistocompatible donors and recipients produces immune reactions

Human myoblast transplantation: preliminary results of 4 cases

Identification of novelFUSmutations in sporadic cases of amyotrophic lateral sclerosis ⬇️

Infant mortality in myotonic dystrophy in Saguenay-Lac-St-Jean: a historical perspective

Intravascular lymphoma with conus medullaris syndrome followed by encephalopathy

K-Cl cotransport in red blood cells from patients with KCC3 isoform mutants

KCC3 loss-of-function contributes to Andermann syndrome by inducing activity-dependent neuromuscular junction defects

Location score and haplotype analyses of the locus for autosomal recessive spastic ataxia of Charlevoix-Saguenay, in chromosome region 13q11.

Long-term safety and efficacy of teriflunomide: Nine-year follow-up of the randomized TEMSO study

Matrix form for the instrument line shape of Fourier-transform spectrometers yielding a fast integration algorithm to theoretical spectra

Mutation screening of the ALS2 gene in sporadic and familial amyotrophic lateral sclerosis

Mutational analysis of glycyl-tRNA synthetase (GARS) gene in Hirayama disease

Mutations in FUS cause FALS and SALS in French and French Canadian populations

Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia

Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy

Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans

Nerve conduction studies and electromyography in Friedreich's ataxia

Nuclear inclusions in oculopharyngeal muscular dystrophy in Quebec.

Oculopharyngeal MD among Bukhara Jews is due to a founder (GCG)9 mutation in the PABP2 gene

Oculopharyngeal muscular dystrophy

Origin of Friedreich's disease in Quebec

PABPN1 overexpression leads to upregulation of genes encoding nuclear proteins that are sequestered in oculopharyngeal muscular dystrophy nuclear inclusions.

Plasma Lipids and Lipoproteins in Friedreich's Ataxia and Familial Spastic Ataxia — Evidence for an Abnormal Composition of High Density Lipoproteins ⬇️

Progressive multifocal leucoencephalopathy. Observation with predominant pontocerebellar lesions and association with congenital immune deficiency

Randomized study of once-weekly interferon beta-1la therapy in relapsing multiple sclerosis: three-year data from the OWIMS study

Rapid detection of the sacsin mutations causing autosomal recessive spastic ataxia of Charlevoix-Saguenay

Reference optical phantoms for diffuse optical spectroscopy. Part 1--Error analysis of a time resolved transmittance characterization method

Replication study of MATR3 in familial and sporadic amyotrophic lateral sclerosis

Results of a triple blind clinical study of myoblast transplantations without immunosuppressive treatment in young boys with Duchenne muscular dystrophy.

SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases

SYNE1 mutations in autosomal recessive cerebellar ataxia