Lista de obras - Michel Vanasse - Dominio Público Uruguay

A case of secondary dystonia responding to levodopa.

artículo científico publicado en 2009

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

artículo científico publicado en 2006

A new form of congenital muscular dystrophy with joint hyperlaxity maps to 3p23-21.

artículo científico publicado en 2006

A newborn with spinal muscular atrophy type 0 presenting with a clinicopathological picture suggestive of myotubular myopathy.

artículo científico publicado en 2007

A progressive neurological syndrome associated with an isolated vitamin E deficiency

artículo científico publicado en 1984

Acute combined central and peripheral nervous system demyelination in children

artículo científico publicado en 2008

All-Cause Mortality and Cardiovascular Outcomes With Prophylactic Steroid Therapy in Duchenne Muscular Dystrophy ⬇️

artículo científico publicado el 23 de enero de 2013

Alu-PCR combined with non-Alu primers reveals multiple polymorphic loci

artículo científico publicado en 1995

An atypical case of SCN9A mutation presenting with global motor delay and a severe pain disorder

artículo científico publicado en 2013

Auditory brainstem response audiometry in congenitally hypothyroid children under early replacement therapy

artículo científico publicado en 1986

Autosomal dominant juvenile myoclonic epilepsy and GABRA1.

artículo científico publicado en 2005

Brain tumors in children in a French Canadian environment

artículo científico publicado el 1 de agosto de 1979

Carrier status diagnosis in Duchenne muscular dystrophy with "conformational" DNA polymorphism

artículo científico publicado en 1992

Chronic inflammatory demyelinating polyneuropathy

artículo científico publicado en 2013

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 chronic (types II and III) childhood onset spinal muscular atrophy

scientific article published on 01 December 1996

Congenital axonal neuropathy and encephalopathy

artículo científico publicado en 2008

Correlation between serum lipoamide dehydrogenase activity and phosphatidylcholine therapy in Friedreich's ataxia.

artículo científico publicado en 1980

Critical illness polyneuromyopathy in a child with severe demyelinating myelitis

artículo científico publicado en 2009

Deflazacort use in Duchenne muscular dystrophy: an 8-year follow-up

artículo científico publicado en 2008

Deletions in the dystrophin gene: analysis of Duchenne and Becker muscular dystrophy patients in Quebec ⬇️

artículo científico publicado el 1 de junio de 1992

Efficacy and safety of deflazacort vs prednisone and placebo for Duchenne muscular dystrophy

artículo científico publicado en 2016

Efficacy and safety of lacosamide as an adjunctive therapy for refractory focal epilepsy in paediatric patients: a retrospective single-centre study

artículo científico publicado en 2015

Electromyography in the differential diagnosis of infant hypotonia

artículo científico publicado el 1 de abril de 1982

Evolution and treatment of childhood chronic inflammatory polyneuropathy

scientific article published on 01 February 2007

Excess of De Novo Deleterious Mutations in Genes Associated with Glutamatergic Systems in Nonsyndromic Intellectual Disability

artículo científico publicado en 2011

Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability

scientific journal article

Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster

artículo científico publicado en 2008

Friedreich's ataxia: malic enzyme activity in cellular fractions of cultured skin fibroblasts

artículo científico publicado en 1984

Gross Motor Function Measure Evolution Ratio: Use as a Control for Natural Progression in Cerebral Palsy

artículo científico publicado en 2015

HBO2 and cerebral palsy in children

scholarly article by Pierre Marois & Michel Vanasse published 1 January 2007 in Undersea and Hyperbaric Medicine

Health-Related Quality of Life for Patients With Genetically Determined Leukoencephalopathy

artículo científico publicado en 2018

Hereditary motor and sensory neuropathy with agenesis of the corpus callosum

artículo científico publicado en 2003

Hyperbaric oxygen for children with cerebral palsy: a randomised multicentre trial. HBO-CP Research Group

artículo científico publicado en 2001

Hyperbaric oxygen therapy and cerebral palsy

scientific article published on 01 September 2003

Impaired muscle differentiation in explant cultures of Duchenne muscular dystrophy

artículo científico publicado en 1984

Intellectual disability without epilepsy associated with STXBP1 disruption

artículo científico publicado en 2011

Intermittent peripheral weakness as the presenting feature of pyruvate dehydrogenase deficiency

artículo científico publicado en 2006

Intermittent treatment of febrile convulsions with nitrazepam.

artículo científico publicado en 1984

Linkage disequilibrium analysis of childhood-onset spinal muscular atrophy (SMA) in the French-Canadian population

scientific article published on 01 March 1994

Linkage study of chronic childhood-onset spinal muscular atrophy (SMA): confirmation of close linkage to D5S39 in French Canadian families

artículo científico publicado en 1992

Lipid profile, fatty acid composition and pro- and anti-oxidant status in pediatric patients with attention-deficit/hyperactivity disorder

artículo científico publicado en 2008

Long-term outcome of Leigh syndrome caused by the NARP-T8993C mtDNA mutation

artículo científico publicado en 2007

Medical and psychosocial considerations in rehabilitation care of childhood neuromuscular diseases

artículo científico

Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy

artículo científico publicado en 2002

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

Myelination Delay and Allan-Herndon-Dudley Syndrome Caused by a Novel Mutation in the SLC16A2 Gene

artículo científico publicado en 2014

Neurologic crises in hereditary tyrosinemia

scientific article published on 01 February 1990

Neuropsychological effects of hyperbaric oxygen therapy in cerebral palsy

artículo científico publicado en 2002

Omega-3 fatty acid treatment of children with attention-deficit hyperactivity disorder: A randomized, double-blind, placebo-controlled study

artículo científico publicado en 2009

Oral lecithin and linoleic acid in Friedreich's ataxia: I. Design of the study, material and methods

artículo científico publicado en 1982

Oral lecithin and linoleic acid in Friedreich's ataxia: II. Clinical results

artículo científico publicado en 1982

Oral lecithin and linoleic acid in Friedreich's ataxia: III. Biochemical results

artículo científico publicado en 1982

Phenotypic Manifestations in French-Canadian Population with Charcot-Marie-Tooth Disease Type 1A Associated with 17p11.2 Duplication

Phenotypic manifestations in French-Canadian populations with Charcot-Marie-Tooth disease type 1A associated with 17p11.2 duplication

scientific article published on 01 September 1999

Phenotypic variability in Friedreich ataxia: role of the associated GAA triplet repeat expansion

scientific article published on 01 May 1997

SMN(T) and NAIP mutations in Canadian families with spinal muscular atrophy (SMA): genotype/phenotype correlations with disease severity

artículo científico publicado en 1997

Single-strand conformational polymorphisms (SSCP): detection of useful polymorphisms at the dystrophin locus

artículo científico publicado en 1992

Somatosensory evoked potentials and auditory brain-stem responses in congenital hypothyroidism. I. A longitudinal study before and after treatment in six infants detected in the neonatal period

artículo científico publicado en 1986

Somatosensory evoked potentials and auditory brain-stem responses in congenital hypothyroidism. II. A cross-sectional study in childhood. Correlations with hormonal levels and developmental quotients

artículo científico publicado en 1987

The Andermann Syndrome: Agenesis of the Corpus Callosum Associated with Mental Retardation and Progressive Sensorimotor Neuronopathy ⬇️

artículo científico publicado el 1 de mayo de 1984

The beta-amino acid transport system in Friedreich's ataxia

scientific article published on 01 November 1980

Toxic reactions with valproic acid therapy

scientific article published on 01 May 1981

Transient Creatine Phosphokinase Elevations in Children: A Single-Center Experience ⬇️

artículo científico publicado el 17 de mayo de 2011

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

artículo científico publicado en 2010

Two mutations in the HSN2 gene explain the high prevalence of HSAN2 in French Canadians

artículo científico publicado en 2005

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

artículo científico

[Congenital myopathies. 9 case reports and general review]

scientific article published on 01 February 1980

[Fucosidosis: 1st Canadian case]

artículo científico publicado en 1978

Lista de obras de Michel Vanasse

A case of secondary dystonia responding to levodopa.

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

A new form of congenital muscular dystrophy with joint hyperlaxity maps to 3p23-21.

A newborn with spinal muscular atrophy type 0 presenting with a clinicopathological picture suggestive of myotubular myopathy.

A progressive neurological syndrome associated with an isolated vitamin E deficiency

Acute combined central and peripheral nervous system demyelination in children

All-Cause Mortality and Cardiovascular Outcomes With Prophylactic Steroid Therapy in Duchenne Muscular Dystrophy ⬇️

Alu-PCR combined with non-Alu primers reveals multiple polymorphic loci

An atypical case of SCN9A mutation presenting with global motor delay and a severe pain disorder

Auditory brainstem response audiometry in congenitally hypothyroid children under early replacement therapy

Autosomal dominant juvenile myoclonic epilepsy and GABRA1.

Brain tumors in children in a French Canadian environment

Carrier status diagnosis in Duchenne muscular dystrophy with "conformational" DNA polymorphism

Chronic inflammatory demyelinating polyneuropathy

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 chronic (types II and III) childhood onset spinal muscular atrophy

Congenital axonal neuropathy and encephalopathy

Correlation between serum lipoamide dehydrogenase activity and phosphatidylcholine therapy in Friedreich's ataxia.

Critical illness polyneuromyopathy in a child with severe demyelinating myelitis

Deflazacort use in Duchenne muscular dystrophy: an 8-year follow-up

Deletions in the dystrophin gene: analysis of Duchenne and Becker muscular dystrophy patients in Quebec ⬇️

Efficacy and safety of deflazacort vs prednisone and placebo for Duchenne muscular dystrophy

Efficacy and safety of lacosamide as an adjunctive therapy for refractory focal epilepsy in paediatric patients: a retrospective single-centre study

Electromyography in the differential diagnosis of infant hypotonia

Evolution and treatment of childhood chronic inflammatory polyneuropathy

Excess of De Novo Deleterious Mutations in Genes Associated with Glutamatergic Systems in Nonsyndromic Intellectual Disability

Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability

Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster

Friedreich's ataxia: malic enzyme activity in cellular fractions of cultured skin fibroblasts

Gross Motor Function Measure Evolution Ratio: Use as a Control for Natural Progression in Cerebral Palsy

HBO2 and cerebral palsy in children

Health-Related Quality of Life for Patients With Genetically Determined Leukoencephalopathy

Hereditary motor and sensory neuropathy with agenesis of the corpus callosum

Hyperbaric oxygen for children with cerebral palsy: a randomised multicentre trial. HBO-CP Research Group

Hyperbaric oxygen therapy and cerebral palsy

Impaired muscle differentiation in explant cultures of Duchenne muscular dystrophy

Intellectual disability without epilepsy associated with STXBP1 disruption

Intermittent peripheral weakness as the presenting feature of pyruvate dehydrogenase deficiency

Intermittent treatment of febrile convulsions with nitrazepam.

Linkage disequilibrium analysis of childhood-onset spinal muscular atrophy (SMA) in the French-Canadian population

Linkage study of chronic childhood-onset spinal muscular atrophy (SMA): confirmation of close linkage to D5S39 in French Canadian families

Lipid profile, fatty acid composition and pro- and anti-oxidant status in pediatric patients with attention-deficit/hyperactivity disorder

Long-term outcome of Leigh syndrome caused by the NARP-T8993C mtDNA mutation

Medical and psychosocial considerations in rehabilitation care of childhood neuromuscular diseases

Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy

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

Myelination Delay and Allan-Herndon-Dudley Syndrome Caused by a Novel Mutation in the SLC16A2 Gene

Neurologic crises in hereditary tyrosinemia

Neuropsychological effects of hyperbaric oxygen therapy in cerebral palsy

Omega-3 fatty acid treatment of children with attention-deficit hyperactivity disorder: A randomized, double-blind, placebo-controlled study

Oral lecithin and linoleic acid in Friedreich's ataxia: I. Design of the study, material and methods

Oral lecithin and linoleic acid in Friedreich's ataxia: II. Clinical results

Oral lecithin and linoleic acid in Friedreich's ataxia: III. Biochemical results

Phenotypic Manifestations in French-Canadian Population with Charcot-Marie-Tooth Disease Type 1A Associated with 17p11.2 Duplication

Phenotypic manifestations in French-Canadian populations with Charcot-Marie-Tooth disease type 1A associated with 17p11.2 duplication

Phenotypic variability in Friedreich ataxia: role of the associated GAA triplet repeat expansion

SMN(T) and NAIP mutations in Canadian families with spinal muscular atrophy (SMA): genotype/phenotype correlations with disease severity

Single-strand conformational polymorphisms (SSCP): detection of useful polymorphisms at the dystrophin locus

Somatosensory evoked potentials and auditory brain-stem responses in congenital hypothyroidism. I. A longitudinal study before and after treatment in six infants detected in the neonatal period

Somatosensory evoked potentials and auditory brain-stem responses in congenital hypothyroidism. II. A cross-sectional study in childhood. Correlations with hormonal levels and developmental quotients

The Andermann Syndrome: Agenesis of the Corpus Callosum Associated with Mental Retardation and Progressive Sensorimotor Neuronopathy ⬇️

The beta-amino acid transport system in Friedreich's ataxia

Toxic reactions with valproic acid therapy

Transient Creatine Phosphokinase Elevations in Children: A Single-Center Experience ⬇️

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

Two mutations in the HSN2 gene explain the high prevalence of HSAN2 in French Canadians

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

[Congenital myopathies. 9 case reports and general review]

[Fucosidosis: 1st Canadian case]