Search filters

List of works by 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

scientific article published in April 2009

A frameshifting mutation in CHRNE unmasks skipping of the preceding exon

scientific article published on 7 October 2003

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

scientific article

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

scientific article published on June 2010

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

scientific article published on May 24, 2011

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

scientific article published on 23 January 2016

An adult with a rare form of congenital fiber type disproportion

scientific article published on 7 September 2017

Anesthesia and myotonic dystrophy type 2: a case series

scientific article published on 15 January 2010

Autoimmune aquaporin-4 myopathy in neuromyelitis optica spectrum

scientific article published in August 2014

Autosomal dominant distal myopathy due to a novel ACTA1 mutation

scientific article published on 5 May 2017

Camptocormia as presenting manifestation of a spectrum of myopathic disorders

scientific article published on 21 April 2015

Characterization of isolated amyloid myopathy

scientific article

Clinical Features and Treatment Outcomes of Necrotizing Autoimmune Myopathy

scientific article published on 20 July 2015

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

scientific article

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

scientific article published on 16 May 2014

Clinical spectrum of valosin containing protein (VCP)-opathy

scientific article

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

scientific article

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

scientific article

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.

scientific article

Diagnosis and Management of Immune-Mediated Myopathies

scientific article published on May 2017

Diagnosis of mitochondrial myopathies ⬇️

scientific article published on July 17, 2013

Distal myopathy with coexisting heterozygous TIA1 and MYH7 Variants

scientific article published on 24 May 2016

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

scientific article published on July 2008

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

scientific article published on April 8, 2011

Exercise intolerance due to cytochrome b mutation

scientific article published on July 2010

Focal and other unusual presentations of facioscapulohumeral muscular dystrophy ⬇️

scientific article published on September 1, 2012

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

scientific article published in June 2018

GFPT1-myasthenia: clinical, structural, and electrophysiologic heterogeneity

scientific article published on 21 June 2013

Hereditary myopathies with early respiratory insufficiency in adults

scientific article published on 9 February 2017

Intramuscular interstitial amyloid deposition does not impact anoctaminopathy-5 phenotype

scientific article published on 17 October 2018

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

scientific article

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

scientific article

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

Mitochondria, Diabetes, and Alzheimer’s Disease ⬇️

scientific article published on May 1, 2012

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

scientific article published on August 31, 2011

Mitochondrial disorder with OPA1 mutation lacking optic atrophy

scientific article published on 20 March 2009

Mitochondrial dynamics: general concepts and clinical implications

scientific article published on May 2012

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

scientific article published on October 13, 2011

Molecular and clinical genetics of mitochondrial diseases due to POLG mutations

scientific article

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

scientific article published on 4 July 2016

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

scientific article

Myopathy during treatment with the antianginal drug ranolazine

scientific article published on 31 October 2014

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

scientific article published in March 2009

Novel OPA1 mutation featuring spastic paraparesis and intestinal dysmotility

scientific article published on 8 October 2014

Novel POLG Splice Site Mutation and Optic Atrophy ⬇️

scientific article published on June 1, 2011

Orthostatic tremor, progressive external ophthalmoplegia, and Twinkle

scientific article published in November 2013

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

scientific article

PRES leading to the diagnosis of McArdle disease

scientific article published on 5 September 2017

Paraneoplastic encephalopathy: an unusual presenting feature of bladder cancer metastasis

scientific article published on 4 May 2015

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

scientific article

Polymerase gamma 1 mutations: clinical correlations

scientific article published on March 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

scientific article

RYR1 causing distal myopathy

scientific article published on 4 October 2017

Rapsyn congenital myasthenic syndrome worsened by fluoxetine

scientific article published on 11 July 2016

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

scientific article

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

scientific article published on 07 June 2013

Rhabdomyolysis and fluctuating asymptomatic hyperCKemia associated with CACNA1S variant

scientific article published on 29 November 2017

Rhabdomyolysis featuring muscular dystrophies

scientific article published on 10 December 2015

Sensory ataxic neuropathy with ophthalmoparesis caused by POLG mutations

scientific article published on 27 June 2008

Signal recognition particle immunoglobulin g detected incidentally associates with autoimmune myopathy

scientific article

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 ⬇️

scientific article published on August 1, 1997

Sporadic late onset nemaline myopathy responsive to IVIg and immunotherapy

scientific article

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

scientific article

Untangling the Complexity of Limb-girdle Muscular Dystrophies.

scientific article

Paulina is supported by:

About Paulina

Help