Lista de obras - Anthony Béhin - Dominio Público Uruguay

A diagnostic flow chart for POLG-related diseases based on signs sensitivity and specificity

artículo científico publicado en 2014

A novel MYH7 mutation occurring independently in French and Norwegian Laing distal myopathy families and de novo in one Finnish patient

scientific article published on 30 January 2011

A phase I trial of adeno-associated virus serotype 1-γ-sarcoglycan gene therapy for limb girdle muscular dystrophy type 2C.

artículo científico publicado en 2012

Anti-HMGCR autoantibodies in European patients with autoimmune necrotizing myopathies: inconstant exposure to statin

artículo científico publicado en 2014

Antisynthetase Syndrome with Anti-Jo1 Antibodies in 48 Patients: Pulmonary Involvement Predicts Disease-modifying Antirheumatic Drug Use

scientific article published on 01 August 2012

Association Between Mutation Size and Cardiac Involvement in Myotonic Dystrophy Type 1: An Analysis of the DM1-Heart Registry

artículo científico

Atrial flutter in myotonic dystrophy type 1: Patient characteristics and clinical outcome.

artículo científico publicado en 2016

Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution

artículo científico publicado en 2014

Bezafibrate for an inborn mitochondrial beta-oxidation defect.

artículo científico publicado en 2009

Brugada syndrome and abnormal splicing of SCN5A in myotonic dystrophy type 1.

artículo científico publicado en 2013

Cardiac arrhythmia and late-onset muscle weakness caused by a myofibrillar myopathy with unusual histopathological features due to a novel missense mutation in FLNC.

artículo científico publicado en 2016

Clinical and electrophysiological characteristics of neuropathy associated with Tangier disease

artículo científico publicado en 2011

Combined benign odontogenic tumors: CT and MR findings and histomorphologic evaluation

scientific article published on 01 May 2001

Complications of radiation therapy on the brain and spinal cord

artículo científico publicado en 2004

Confirmation that abnormal desmin accumulation and migration are due to a desmin gene mutation in a familial cardiomyopathy and distal myopathy

scientific article published on 28 August 2009

Correlation of anti-signal recognition particle autoantibody levels with creatine kinase activity in patients with necrotizing myopathy.

artículo científico publicado en 2011

Coupling between skeletal muscle fiber size and capillarization is maintained during healthy aging

artículo científico publicado en 2017

Cross-sectional retrospective study of muscle function in patients with glycogen storage disease type III.

artículo científico publicado en 2016

Development and Validation of a New Scoring System to Predict Survival in Patients With Myotonic Dystrophy Type 1.

artículo científico publicado en 2018

Diagnostic power of the non-ischaemic forearm exercise test in detecting glycogenosis type V.

artículo científico publicado en 2015

Diagnostic value of markers of muscle degeneration in sporadic inclusion body myositis.

artículo científico publicado en 2011

Diaphragm: Pathophysiology and Ultrasound Imaging in Neuromuscular Disorders

artículo científico publicado en 2018

Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study.

artículo científico publicado en 2009

Dilated cardiomyopathy in patients with mutations in anoctamin 5

artículo científico publicado en 2012

Distal inflammatory myopathy: Unusual presentation of polymyositis or new entity?

artículo científico publicado en 2008

Efficacy of rituximab in refractory and relapsing myositis with anti-JO1 antibodies: a report of two cases

scientific article published on 23 June 2009

Electron microscopy in myofibrillar myopathies reveals clues to the mutated gene

artículo científico publicado en 2008

Endplate denervation correlates with Nogo-A muscle expression in amyotrophic lateral sclerosis patients.

artículo científico publicado en 2015

Facial malignant peripheral nerve sheath tumors.

artículo científico publicado en 2006

Focal necrotizing myopathy with 'dropped-head syndrome' induced by cobimetinib in metastatic melanoma.

artículo científico publicado en 2017

Follow-up study and response to treatment in 23 patients with Lewis-Sumner syndrome

artículo científico publicado en 2004

GNE myopathy

artículo científico publicado en 2015

GNE myopathy: proven failure of sialic acid supplementation… what's next?

artículo científico publicado en 2017

Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study

artículo científico publicado en 2016

Genetic Characterization of a French Cohort of GNE-mutation negative inclusion body myopathy patients with exome sequencing.

artículo científico publicado en 2017

Genotype and other determinants of respiratory function in myotonic dystrophy type 1.

artículo científico publicado en 2017

Giant cell arteritis with ocular complications discovered simultaneously in two sisters

scientific article published on 01 January 1998

Hearing impairment in patients with myotonic dystrophy type 2.

artículo científico publicado en 2018

High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study

artículo científico publicado en 2011

High prevalence of incomplete right bundle branch block in facioscapulohumeral muscular dystrophy without cardiac symptoms

artículo científico publicado en 2014

High risk of cancer in autoimmune necrotizing myopathies: usefulness of myositis specific antibody.

artículo científico publicado en 2016

High risk of severe cardiac adverse events in patients with mitochondrial m.3243A>G mutation.

artículo científico publicado en 2012

Hyperckemia and myalgia are common presentations of anoctamin-5-related myopathy in French patients

artículo científico publicado en 2017

Incidence and predictors of sudden death, major conduction defects and sustained ventricular tachyarrhythmias in 1388 patients with myotonic dystrophy type 1.

artículo científico publicado en 2016

Intravascular malignant lymphomatosis.

artículo científico publicado en 2002

Late-onset cervicoscapular muscle atrophy and weakness after radiotherapy for Hodgkin disease: a case series

scientific article published on 01 January 2010

Left bundle branch block in Duchenne muscular dystrophy: Prevalence, genetic relationship and prognosis.

artículo científico publicado en 2018

Long term longitudinal study of muscle function in patients with glycogen storage disease type IIIa.

artículo científico publicado en 2017

Long-term cardiac prognosis and risk stratification in 260 adults presenting with mitochondrial diseases

artículo científico publicado en 2015

Long-term follow-up of bezafibrate treatment in patients with the myopathic form of carnitine palmitoyltransferase 2 deficiency.

artículo científico publicado en 2010

Manual segmentation of individual muscles of the quadriceps femoris using MRI: a reappraisal.

artículo científico publicado en 2013

Medical management of malignant gliomas

artículo científico publicado en 2000

Miyoshi-like distal myopathy with mutations in anoctamin 5 gene

artículo científico publicado en 2012

MuSK autoantibodies in myasthenia gravis detected by cell based assay--A multinational study.

artículo científico publicado en 2015

Multifocal motor neuropathy

artículo científico publicado en 2005

Multiple acyl-CoA dehydrogenase deficiency (MADD) as a cause of late-onset treatable metabolic disease.

artículo científico publicado en 2016

Muscle histone deacetylase 4 upregulation in amyotrophic lateral sclerosis: potential role in reinnervation ability and disease progression.

artículo científico publicado en 2013

Myofibrillar Myopathies: New Perspectives from Animal Models to Potential Therapeutic Approaches

artículo científico publicado en 2017

Myofibrillar myopathies: State of the art, present and future challenges

artículo científico

NMR imaging estimates of muscle volume and intramuscular fat infiltration in the thigh: variations with muscle, gender, and age.

artículo científico publicado en 2015

Natural History of Cardiac and Respiratory Involvement, Prognosis and Predictive Factors for Long-Term Survival in Adult Patients with Limb Girdle Muscular Dystrophies Type 2C and 2D.

artículo científico publicado en 2016

Neuropathies in the context of malignancies.

artículo científico publicado en 2008

Neuropathy in lymphoma: a relationship between the pattern of neuropathy, type of lymphoma and prognosis?

scientific article published on 30 October 2007

Non Random Distribution of DMD Deletion Breakpoints and Implication of Double Strand Breaks Repair and Replication Error Repair Mechanisms.

artículo científico publicado en 2016

Novel Pathogenic Variants in a French Cohort Widen the Mutational Spectrum of GNE Myopathy.

artículo científico publicado en 2015

Ocular myasthenia: diagnosis and treatment

artículo científico publicado en 2010

Phenotype and genotype of muscle ryanodine receptor rhabdomyolysis-myalgia syndrome.

artículo científico publicado en 2017

Postirradiation neuromyotonia of spinal accessory nerves

artículo científico publicado en 2011

Prediction of long-term prognosis by heteroplasmy levels of the m.3243A>G mutation in patients with the mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes syndrome.

artículo científico publicado en 2016

Prevalence of ANCA in a hospitalized elderly French population.

artículo científico publicado en 1997

Primary brain tumours in adults.

artículo científico publicado en 2003

Proceedings of Réanimation 2017, the French Intensive Care Society International Congress

artículo científico publicado en 2017

Quickly progressive amyotrophy of the thigh: An unusual cause of rapid chondrolysis of the knee.

artículo científico publicado en 2015

Relationship between muscle impairments, postural stability, and gait parameters assessed with lower-trunk accelerometry in myotonic dystrophy type 1.

artículo científico publicado en 2016

Respiratory muscle dysfunction in facioscapulohumeral muscular dystrophy.

artículo científico publicado en 2015

Risk for Complications after Pacemaker or Cardioverter Defibrillator Implantations in Patients with Myotonic Dystrophy Type 1.

artículo científico publicado en 2017

Severe neonatal myasthenia due to maternal anti-MuSK antibodies.

artículo científico publicado en 2008

The diagnostic value of hyperammonaemia induced by the non-ischaemic forearm exercise test.

artículo científico publicado en 2017

The role of electrodiagnosis with long exercise test in McArdle disease.

artículo científico publicado en 2018

Titin antibodies in "seronegative" myasthenia gravis--A new role for an old antigen.

artículo científico publicado en 2016

Whole-Body muscle MRI in a series of patients with congenital myopathy related to TPM2 gene mutations

artículo científico publicado en 2012

[Congenital myasthenic syndromes: difficulties in the diagnosis, course and prognosis, and therapy--The French National Congenital Myasthenic Syndrome Network experience]

artículo científico publicado en 2013

[Distal myopathy due to mutations of GNE gene: clinical spectrum and diagnosis]

artículo científico publicado en 2008

[Paraplegia disclosing an intracranial arterovenous fistula with perimedullary drainage]

scientific article published on 01 January 2002

Lista de obras de Anthony Béhin

A diagnostic flow chart for POLG-related diseases based on signs sensitivity and specificity

A novel MYH7 mutation occurring independently in French and Norwegian Laing distal myopathy families and de novo in one Finnish patient

A phase I trial of adeno-associated virus serotype 1-γ-sarcoglycan gene therapy for limb girdle muscular dystrophy type 2C.

Anti-HMGCR autoantibodies in European patients with autoimmune necrotizing myopathies: inconstant exposure to statin

Antisynthetase Syndrome with Anti-Jo1 Antibodies in 48 Patients: Pulmonary Involvement Predicts Disease-modifying Antirheumatic Drug Use

Association Between Mutation Size and Cardiac Involvement in Myotonic Dystrophy Type 1: An Analysis of the DM1-Heart Registry

Atrial flutter in myotonic dystrophy type 1: Patient characteristics and clinical outcome.

Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution

Bezafibrate for an inborn mitochondrial beta-oxidation defect.

Brugada syndrome and abnormal splicing of SCN5A in myotonic dystrophy type 1.

Cardiac arrhythmia and late-onset muscle weakness caused by a myofibrillar myopathy with unusual histopathological features due to a novel missense mutation in FLNC.

Clinical and electrophysiological characteristics of neuropathy associated with Tangier disease

Combined benign odontogenic tumors: CT and MR findings and histomorphologic evaluation

Complications of radiation therapy on the brain and spinal cord

Confirmation that abnormal desmin accumulation and migration are due to a desmin gene mutation in a familial cardiomyopathy and distal myopathy

Correlation of anti-signal recognition particle autoantibody levels with creatine kinase activity in patients with necrotizing myopathy.

Coupling between skeletal muscle fiber size and capillarization is maintained during healthy aging

Cross-sectional retrospective study of muscle function in patients with glycogen storage disease type III.

Development and Validation of a New Scoring System to Predict Survival in Patients With Myotonic Dystrophy Type 1.

Diagnostic power of the non-ischaemic forearm exercise test in detecting glycogenosis type V.

Diagnostic value of markers of muscle degeneration in sporadic inclusion body myositis.

Diaphragm: Pathophysiology and Ultrasound Imaging in Neuromuscular Disorders

Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study.

Dilated cardiomyopathy in patients with mutations in anoctamin 5

Distal inflammatory myopathy: Unusual presentation of polymyositis or new entity?

Efficacy of rituximab in refractory and relapsing myositis with anti-JO1 antibodies: a report of two cases

Electron microscopy in myofibrillar myopathies reveals clues to the mutated gene

Endplate denervation correlates with Nogo-A muscle expression in amyotrophic lateral sclerosis patients.

Facial malignant peripheral nerve sheath tumors.

Focal necrotizing myopathy with 'dropped-head syndrome' induced by cobimetinib in metastatic melanoma.

Follow-up study and response to treatment in 23 patients with Lewis-Sumner syndrome

GNE myopathy

GNE myopathy: proven failure of sialic acid supplementation… what's next?

Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study

Genetic Characterization of a French Cohort of GNE-mutation negative inclusion body myopathy patients with exome sequencing.

Genotype and other determinants of respiratory function in myotonic dystrophy type 1.

Giant cell arteritis with ocular complications discovered simultaneously in two sisters

Hearing impairment in patients with myotonic dystrophy type 2.

High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study

High prevalence of incomplete right bundle branch block in facioscapulohumeral muscular dystrophy without cardiac symptoms

High risk of cancer in autoimmune necrotizing myopathies: usefulness of myositis specific antibody.

High risk of severe cardiac adverse events in patients with mitochondrial m.3243A>G mutation.

Hyperckemia and myalgia are common presentations of anoctamin-5-related myopathy in French patients

Incidence and predictors of sudden death, major conduction defects and sustained ventricular tachyarrhythmias in 1388 patients with myotonic dystrophy type 1.

Intravascular malignant lymphomatosis.

Late-onset cervicoscapular muscle atrophy and weakness after radiotherapy for Hodgkin disease: a case series

Left bundle branch block in Duchenne muscular dystrophy: Prevalence, genetic relationship and prognosis.

Long term longitudinal study of muscle function in patients with glycogen storage disease type IIIa.

Long-term cardiac prognosis and risk stratification in 260 adults presenting with mitochondrial diseases

Long-term follow-up of bezafibrate treatment in patients with the myopathic form of carnitine palmitoyltransferase 2 deficiency.

Manual segmentation of individual muscles of the quadriceps femoris using MRI: a reappraisal.

Medical management of malignant gliomas

Miyoshi-like distal myopathy with mutations in anoctamin 5 gene

MuSK autoantibodies in myasthenia gravis detected by cell based assay--A multinational study.

Multifocal motor neuropathy

Multiple acyl-CoA dehydrogenase deficiency (MADD) as a cause of late-onset treatable metabolic disease.

Muscle histone deacetylase 4 upregulation in amyotrophic lateral sclerosis: potential role in reinnervation ability and disease progression.

Myofibrillar Myopathies: New Perspectives from Animal Models to Potential Therapeutic Approaches

Myofibrillar myopathies: State of the art, present and future challenges

NMR imaging estimates of muscle volume and intramuscular fat infiltration in the thigh: variations with muscle, gender, and age.

Natural History of Cardiac and Respiratory Involvement, Prognosis and Predictive Factors for Long-Term Survival in Adult Patients with Limb Girdle Muscular Dystrophies Type 2C and 2D.

Neuropathies in the context of malignancies.

Neuropathy in lymphoma: a relationship between the pattern of neuropathy, type of lymphoma and prognosis?

Non Random Distribution of DMD Deletion Breakpoints and Implication of Double Strand Breaks Repair and Replication Error Repair Mechanisms.

Novel Pathogenic Variants in a French Cohort Widen the Mutational Spectrum of GNE Myopathy.

Ocular myasthenia: diagnosis and treatment

Phenotype and genotype of muscle ryanodine receptor rhabdomyolysis-myalgia syndrome.

Postirradiation neuromyotonia of spinal accessory nerves

Prediction of long-term prognosis by heteroplasmy levels of the m.3243A>G mutation in patients with the mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes syndrome.

Prevalence of ANCA in a hospitalized elderly French population.

Primary brain tumours in adults.

Proceedings of Réanimation 2017, the French Intensive Care Society International Congress

Quickly progressive amyotrophy of the thigh: An unusual cause of rapid chondrolysis of the knee.

Relationship between muscle impairments, postural stability, and gait parameters assessed with lower-trunk accelerometry in myotonic dystrophy type 1.

Respiratory muscle dysfunction in facioscapulohumeral muscular dystrophy.

Risk for Complications after Pacemaker or Cardioverter Defibrillator Implantations in Patients with Myotonic Dystrophy Type 1.

Severe neonatal myasthenia due to maternal anti-MuSK antibodies.

The diagnostic value of hyperammonaemia induced by the non-ischaemic forearm exercise test.

The role of electrodiagnosis with long exercise test in McArdle disease.