Lista de obras - Margherita Milone - Dominio Público Uruguay

2018: Year in Review and Message from the Editors to Our Reviewers

A 41-year-old woman with progressive leg weakness and numbness, dizziness, and myalgia

artículo científico publicado en 2009

A frameshifting mutation in CHRNE unmasks skipping of the preceding exon

artículo científico publicado en 2003

A novel VCP mutation underlies scapuloperoneal muscular dystrophy and dropped head syndrome featuring lobulated fibers.

artículo científico publicado en 2014

Absent, unrecognized, and minimal myotonic discharges in myotonic dystrophy type 2.

artículo científico publicado en 2010

Acquired progressive ataxia and palatal tremor: importance of MRI evidence of hemosiderin deposition and vascular malformations

artículo científico publicado en 2011

Adult-onset respiratory insufficiency, scoliosis, and distal joint hyperlaxity in patients with multiminicore disease due to novel Megf10 mutations

artículo científico publicado en 2016

An adult with a rare form of congenital fiber type disproportion

artículo científico publicado en 2017

Anesthesia and myotonic dystrophy type 2: a case series

artículo científico publicado en 2010

Autoimmune aquaporin-4 myopathy in neuromyelitis optica spectrum

artículo científico publicado en 2014

Autosomal dominant distal myopathy due to a novel ACTA1 mutation.

artículo científico publicado en 2017

Camptocormia as presenting manifestation of a spectrum of myopathic disorders

artículo científico publicado en 2015

Characterization of isolated amyloid myopathy

artículo científico publicado en 2017

Clinical Features and Treatment Outcomes of Necrotizing Autoimmune Myopathy

artículo científico

Clinical and Electrophysiological Findings in Hereditary Inclusion Body Myopathy Compared With Sporadic Inclusion Body Myositis

artículo científico publicado en 2016

Clinical and laboratory findings of 21 patients with radiation-induced myopathy

artículo científico publicado en 2014

Clinical spectrum of valosin containing protein (VCP)-opathy

artículo científico publicado en 2015

Coexistence of DMPK gene expansion and CLCN1 missense mutation in the same patient.

artículo científico publicado en 2014

Comprehensive next-generation sequence analyses of the entire mitochondrial genome reveal new insights into the molecular diagnosis of mitochondrial DNA disorders

artículo científico publicado en 2013

Congenital myasthenic syndromes in adult neurology clinic: A long road to diagnosis and therapy

scientific article published on 05 October 2018

DNAJB6 myopathy: a vacuolar myopathy with childhood onset.

artículo científico publicado en 2014

Diagnosis and Management of Immune-Mediated Myopathies

artículo científico publicado en 2017

Diagnosis of mitochondrial myopathies

artículo científico

Distal myopathy with coexisting heterozygous TIA1 and MYH7 Variants.

artículo científico publicado en 2016

Dok-7 myasthenia: phenotypic and molecular genetic studies in 16 patients

artículo científico publicado en 2008

Endplate structure and parameters of neuromuscular transmission in sporadic centronuclear myopathy associated with myasthenia ⬇️

artículo científico publicado el 8 de abril de 2011

Exercise intolerance due to cytochrome b mutation

artículo científico publicado en 2010

Focal and other unusual presentations of facioscapulohumeral muscular dystrophy

artículo científico

Fuchs' Endothelial Corneal Dystrophy in Patients With Myotonic Dystrophy, Type 1.

artículo científico publicado en 2018

GFPT1-myasthenia: clinical, structural, and electrophysiologic heterogeneity

artículo científico publicado en 2013

Hereditary myopathies with early respiratory insufficiency in adults

artículo científico publicado en 2017

Intramuscular interstitial amyloid deposition does not impact anoctaminopathy-5 phenotype

artículo científico publicado en 2018

LRP4 third β-propeller domain mutations cause novel congenital myasthenia by compromising agrin-mediated MuSK signaling in a position-specific manner

artículo científico publicado en 2013

Loss of MUNC13-1 function causes microcephaly, cortical hyperexcitability, and fatal myasthenia

artículo científico publicado en 2016

Low-rate nerve stimulation during regional ischemia in the diagnosis of muscle glycogenosis

Mitochondria, diabetes, and Alzheimer's disease

artículo científico publicado en 2012

Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum.

artículo científico publicado en 2011

Mitochondrial disorder with OPA1 mutation lacking optic atrophy

artículo científico publicado en 2009

Mitochondrial dynamics: general concepts and clinical implications

artículo científico publicado en 2012

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations

artículo científico publicado en 2011

Molecular and clinical genetics of mitochondrial diseases due to POLG mutations

artículo científico publicado en 2008

Muscle Biopsy and Electromyography Correlation

Mutations Causing Slow-Channel Myasthenia Reveal That a Valine Ring in the Channel Pore of Muscle AChR is Optimized for Stabilizing Channel Gating

artículo científico publicado en 2016

Myofibrillar myopathy due to dominant LMNA mutations: A report of 2 cases

artículo científico publicado en 2017

Myopathy during treatment with the antianginal drug ranolazine.

artículo científico publicado en 2014

Myotonic dystrophy type 2 with focal asymmetric muscle weakness and no electrical myotonia

artículo científico publicado en 2009

Novel OPA1 mutation featuring spastic paraparesis and intestinal dysmotility

artículo científico publicado en 2014

Novel POLG splice site mutation and optic atrophy

artículo científico publicado en 2011

Orthostatic tremor, progressive external ophthalmoplegia, and Twinkle

artículo científico publicado en 2013

POLG-related disorders: defects of the nuclear and mitochondrial genome interaction

artículo científico publicado en 2011

PRES leading to the diagnosis of McArdle disease

artículo científico publicado en 2017

Paraneoplastic encephalopathy: an unusual presenting feature of bladder cancer metastasis

artículo científico publicado en 2015

Pearls & Oy-sters: HyperCKemia with limb-girdle weakness: Think beyond myopathies.

artículo científico publicado en 2014

Polymerase gamma 1 mutations: clinical correlations

artículo científico publicado en 2010

Pompe Disease Could Mimic Exam Findings of Amyloidosis: Two Rare Diagnoses Bona Fide

scientific article published on 28 October 2018

Practice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challenges

artículo científico publicado en 2013

RYR1 causing distal myopathy

artículo científico publicado en 2017

Rapsyn congenital myasthenic syndrome worsened by fluoxetine

artículo científico publicado en 2016

Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome

artículo científico publicado en 2002

Restless legs syndrome and daytime sleepiness are prominent in myotonic dystrophy type 2.

artículo científico publicado en 2013

Rhabdomyolysis and fluctuating asymptomatic hyperCKemia associated with CACNA1S variant

artículo científico publicado en 2017

Rhabdomyolysis featuring muscular dystrophies

artículo científico publicado en 2015

Sensory ataxic neuropathy with ophthalmoparesis caused by POLG mutations

artículo científico publicado en 2008

Signal recognition particle immunoglobulin g detected incidentally associates with autoimmune myopathy

artículo científico publicado en 2015

Slow-Channel Myasthenic Syndrome Caused By Enhanced Activation, Desensitization, and Agonist Binding Affinity Attributable to Mutation in the M2 Domain of the Acetylcholine Receptor α Subunit ⬇️

artículo científico publicado el 1 de agosto de 1997

Sporadic late onset nemaline myopathy responsive to IVIg and immunotherapy

artículo científico publicado en 2010

The Electrophysiology of Presynaptic Congenital Myasthenic Syndromes With and Without Facilitation: From Electrodiagnostic Findings to Molecular Mechanisms

The muscle protein dysferlin accumulates in the Alzheimer brain

artículo científico publicado en 2006

Untangling the Complexity of Limb-girdle Muscular Dystrophies.

artículo científico publicado en 2018

Lista de obras de Margherita Milone

2018: Year in Review and Message from the Editors to Our Reviewers

A 41-year-old woman with progressive leg weakness and numbness, dizziness, and myalgia

A frameshifting mutation in CHRNE unmasks skipping of the preceding exon

A novel VCP mutation underlies scapuloperoneal muscular dystrophy and dropped head syndrome featuring lobulated fibers.

Absent, unrecognized, and minimal myotonic discharges in myotonic dystrophy type 2.

Acquired progressive ataxia and palatal tremor: importance of MRI evidence of hemosiderin deposition and vascular malformations

Adult-onset respiratory insufficiency, scoliosis, and distal joint hyperlaxity in patients with multiminicore disease due to novel Megf10 mutations

An adult with a rare form of congenital fiber type disproportion

Anesthesia and myotonic dystrophy type 2: a case series

Autoimmune aquaporin-4 myopathy in neuromyelitis optica spectrum

Autosomal dominant distal myopathy due to a novel ACTA1 mutation.

Camptocormia as presenting manifestation of a spectrum of myopathic disorders

Characterization of isolated amyloid myopathy

Clinical Features and Treatment Outcomes of Necrotizing Autoimmune Myopathy

Clinical and Electrophysiological Findings in Hereditary Inclusion Body Myopathy Compared With Sporadic Inclusion Body Myositis

Clinical and laboratory findings of 21 patients with radiation-induced myopathy

Clinical spectrum of valosin containing protein (VCP)-opathy

Coexistence of DMPK gene expansion and CLCN1 missense mutation in the same patient.

Comprehensive next-generation sequence analyses of the entire mitochondrial genome reveal new insights into the molecular diagnosis of mitochondrial DNA disorders

Congenital myasthenic syndromes in adult neurology clinic: A long road to diagnosis and therapy

DNAJB6 myopathy: a vacuolar myopathy with childhood onset.

Diagnosis and Management of Immune-Mediated Myopathies

Diagnosis of mitochondrial myopathies

Distal myopathy with coexisting heterozygous TIA1 and MYH7 Variants.

Dok-7 myasthenia: phenotypic and molecular genetic studies in 16 patients

Endplate structure and parameters of neuromuscular transmission in sporadic centronuclear myopathy associated with myasthenia ⬇️

Exercise intolerance due to cytochrome b mutation

Focal and other unusual presentations of facioscapulohumeral muscular dystrophy

Fuchs' Endothelial Corneal Dystrophy in Patients With Myotonic Dystrophy, Type 1.

GFPT1-myasthenia: clinical, structural, and electrophysiologic heterogeneity

Hereditary myopathies with early respiratory insufficiency in adults

Intramuscular interstitial amyloid deposition does not impact anoctaminopathy-5 phenotype

LRP4 third β-propeller domain mutations cause novel congenital myasthenia by compromising agrin-mediated MuSK signaling in a position-specific manner

Loss of MUNC13-1 function causes microcephaly, cortical hyperexcitability, and fatal myasthenia

Low-rate nerve stimulation during regional ischemia in the diagnosis of muscle glycogenosis

Mitochondria, diabetes, and Alzheimer's disease

Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum.

Mitochondrial disorder with OPA1 mutation lacking optic atrophy

Mitochondrial dynamics: general concepts and clinical implications

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations

Molecular and clinical genetics of mitochondrial diseases due to POLG mutations

Muscle Biopsy and Electromyography Correlation

Mutations Causing Slow-Channel Myasthenia Reveal That a Valine Ring in the Channel Pore of Muscle AChR is Optimized for Stabilizing Channel Gating

Myofibrillar myopathy due to dominant LMNA mutations: A report of 2 cases

Myopathy during treatment with the antianginal drug ranolazine.

Myotonic dystrophy type 2 with focal asymmetric muscle weakness and no electrical myotonia

Novel OPA1 mutation featuring spastic paraparesis and intestinal dysmotility

Novel POLG splice site mutation and optic atrophy

Orthostatic tremor, progressive external ophthalmoplegia, and Twinkle

POLG-related disorders: defects of the nuclear and mitochondrial genome interaction

PRES leading to the diagnosis of McArdle disease

Paraneoplastic encephalopathy: an unusual presenting feature of bladder cancer metastasis

Pearls & Oy-sters: HyperCKemia with limb-girdle weakness: Think beyond myopathies.

Polymerase gamma 1 mutations: clinical correlations

Pompe Disease Could Mimic Exam Findings of Amyloidosis: Two Rare Diagnoses Bona Fide

Practice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challenges

RYR1 causing distal myopathy

Rapsyn congenital myasthenic syndrome worsened by fluoxetine

Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome

Restless legs syndrome and daytime sleepiness are prominent in myotonic dystrophy type 2.

Rhabdomyolysis and fluctuating asymptomatic hyperCKemia associated with CACNA1S variant

Rhabdomyolysis featuring muscular dystrophies

Sensory ataxic neuropathy with ophthalmoparesis caused by POLG mutations

Signal recognition particle immunoglobulin g detected incidentally associates with autoimmune myopathy

Slow-Channel Myasthenic Syndrome Caused By Enhanced Activation, Desensitization, and Agonist Binding Affinity Attributable to Mutation in the M2 Domain of the Acetylcholine Receptor α Subunit ⬇️

Sporadic late onset nemaline myopathy responsive to IVIg and immunotherapy

The Electrophysiology of Presynaptic Congenital Myasthenic Syndromes With and Without Facilitation: From Electrodiagnostic Findings to Molecular Mechanisms

The muscle protein dysferlin accumulates in the Alzheimer brain

Untangling the Complexity of Limb-girdle Muscular Dystrophies.