Lista de obras - Enrico Bugiardini - Dominio Público Uruguay

A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms

artículo científico publicado en 2018

ANGPTL6 genetic variants are an underlying cause of familial intracranial aneurysms

scientific article published on 26 October 2020

Adult-onset Leigh syndrome linked to the novel stop codon mutation m.6579G>A in MT-CO1

artículo científico publicado en 2019

Anhidrosis in multiple system atrophy: a preganglionic sudomotor dysfunction?

Autonomic innervation in multiple system atrophy and pure autonomic failure

artículo científico publicado en 2010

Clinical and genetic characterization of leukoencephalopathies in adults

artículo científico publicado en 2017

Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease

artículo científico publicado en 2017

Co-segregation of DM2 with a recessive CLCN1 mutation in juvenile onset of myotonic dystrophy type 2.

artículo científico publicado en 2012

Consensus on cerebral involvement in myotonic dystrophy: workshop report: May 24-27, 2013, Ferrere (AT), Italy

artículo científico

Daytime sympathetic hyperactivity in OSAS is related to excessive daytime sleepiness

artículo científico publicado en 2007

Expanding the molecular and phenotypic spectrum of truncating MT-ATP6 mutations

artículo científico publicado en 2020

GSK3β mediates muscle pathology in myotonic dystrophy

artículo científico publicado en 2012

Genome wide identification of aberrant alternative splicing events in myotonic dystrophy type 2.

artículo científico publicado en 2014

Gonadal failure is associated with visceral adiposity in myotonic dystrophies.

artículo científico publicado en 2015

Homozygous mutation in HSPB1 causing distal vacuolar myopathy and motor neuropathy

artículo científico publicado en 2017

Isolated generalised anhidrosis induced by postganglionic sympathetic skin nerve fibre degeneration: an incomplete Ross syndrome?

artículo científico publicado en 2008

Long-term Safety and Efficacy of Mexiletine for Patients With Skeletal Muscle Channelopathies.

artículo científico publicado en 2015

MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy

scientific article published on 01 August 2019

Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases

publication published on 01 April 2021

Multisystem mitochondrial disease caused by a rare m.10038G>A mitochondrial tRNAGly (MT-TG) variant

scientific article published on 18 March 2020

Muscle biopsy.

artículo científico publicado en 2011

Mutation in RNF170 causes sensory ataxic neuropathy with vestibular areflexia: a CANVAS mimic

scientific article published on 17 September 2020

Mutations in XRCC1 cause cerebellar ataxia and peripheral neuropathy

artículo científico publicado en 2018

Overexpression of CUGBP1 in skeletal muscle from adult classic myotonic dystrophy type 1 but not from myotonic dystrophy type 2.

artículo científico publicado en 2013

Plasma microRNAs as biomarkers for myotonic dystrophy type 1.

artículo científico publicado en 2014

Primary mitochondrial diseases increase susceptibility to bipolar affective disorder

scientific article published on 11 June 2020

Progression of muscle histopathology but not of spliceopathy in myotonic dystrophy type 2.

artículo científico publicado en 2014

SCN4A mutation as modifying factor of myotonic dystrophy type 2 phenotype

artículo científico publicado en 2015

Small fiber neuropathy in female patients with fabry disease

artículo científico publicado en 2010

Sympathetic and cardiovascular activity during cataplexy in narcolepsy

artículo científico publicado en 2008

The Diagnostic Value of MRI Pattern Recognition in Distal Myopathies.

artículo científico publicado en 2018

Utility of Whole Blood Thiamine Pyrophosphate Evaluation in TPK1-Related Diseases

scientific article published on 08 July 2019

Vestibular dysfunction: a frequent problem for adults with mitochondrial disease

artículo científico publicado en 2018

Vitamin D, parathyroid hormone and muscle impairment in myotonic dystrophies.

artículo científico publicado en 2013

Lista de obras de Enrico Bugiardini

A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms

ANGPTL6 genetic variants are an underlying cause of familial intracranial aneurysms

Adult-onset Leigh syndrome linked to the novel stop codon mutation m.6579G>A in MT-CO1

Anhidrosis in multiple system atrophy: a preganglionic sudomotor dysfunction?

Autonomic innervation in multiple system atrophy and pure autonomic failure

Clinical and genetic characterization of leukoencephalopathies in adults

Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease

Co-segregation of DM2 with a recessive CLCN1 mutation in juvenile onset of myotonic dystrophy type 2.

Consensus on cerebral involvement in myotonic dystrophy: workshop report: May 24-27, 2013, Ferrere (AT), Italy

Daytime sympathetic hyperactivity in OSAS is related to excessive daytime sleepiness

Expanding the molecular and phenotypic spectrum of truncating MT-ATP6 mutations

GSK3β mediates muscle pathology in myotonic dystrophy

Genome wide identification of aberrant alternative splicing events in myotonic dystrophy type 2.

Gonadal failure is associated with visceral adiposity in myotonic dystrophies.

Homozygous mutation in HSPB1 causing distal vacuolar myopathy and motor neuropathy

Isolated generalised anhidrosis induced by postganglionic sympathetic skin nerve fibre degeneration: an incomplete Ross syndrome?

Long-term Safety and Efficacy of Mexiletine for Patients With Skeletal Muscle Channelopathies.

MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy

Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases

Multisystem mitochondrial disease caused by a rare m.10038G>A mitochondrial tRNAGly (MT-TG) variant

Muscle biopsy.

Mutation in RNF170 causes sensory ataxic neuropathy with vestibular areflexia: a CANVAS mimic

Mutations in XRCC1 cause cerebellar ataxia and peripheral neuropathy

Overexpression of CUGBP1 in skeletal muscle from adult classic myotonic dystrophy type 1 but not from myotonic dystrophy type 2.

Plasma microRNAs as biomarkers for myotonic dystrophy type 1.

Primary mitochondrial diseases increase susceptibility to bipolar affective disorder

Progression of muscle histopathology but not of spliceopathy in myotonic dystrophy type 2.

SCN4A mutation as modifying factor of myotonic dystrophy type 2 phenotype

Small fiber neuropathy in female patients with fabry disease

Sympathetic and cardiovascular activity during cataplexy in narcolepsy

The Diagnostic Value of MRI Pattern Recognition in Distal Myopathies.

Utility of Whole Blood Thiamine Pyrophosphate Evaluation in TPK1-Related Diseases

Vestibular dysfunction: a frequent problem for adults with mitochondrial disease

Vitamin D, parathyroid hormone and muscle impairment in myotonic dystrophies.