Lista de obras - Maria Pia Giannoccaro - Dominio Público Uruguay

A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16.

artículo científico publicado en 2011

Acute rhabdomyolysis induced by tonic-clonic epileptic seizures in a patient with glucose-6-phosphate dehydrogenase deficiency

scientific article published on 20 September 2013

Antibodies Against Hypocretin Receptor 2 Are Rare in Narcolepsy.

artículo científico publicado en 2017

Antibodies to neuronal surface proteins in Tourette Syndrome: Lack of evidence in a European paediatric cohort

scientific article published on 16 August 2019

Antibody-mediated central nervous system diseases

artículo científico publicado en 2018

Atypical late-onset hereditary spastic paraplegia with thin corpus callosum due to novel compound heterozygous mutations in the SPG11 gene.

artículo científico publicado en 2014

Autonomic innervation in multiple system atrophy and pure autonomic failure

artículo científico publicado en 2010

Behaviour and neuropathology in mice injected with human contactin-associated protein 2 antibodies

scientific article published on 01 July 2019

Combined brain positron emission tomography/magnetic resonance imaging in GABAA receptor encephalitis

artículo científico publicado en 2019

Comparison of ice-pack test and single fiber EMG diagnostic accuracy in patients referred for myasthenic ptosis

artículo científico publicado en 2020

Immune or Genetic-Mediated Disruption of CASPR2 Causes Pain Hypersensitivity Due to Enhanced Primary Afferent Excitability

artículo científico publicado en 2018

Immunotherapy in Narcolepsy

scientific article published on 30 January 2020

Impairment of brain and muscle energy metabolism detected by magnetic resonance spectroscopy in hereditary spastic paraparesis type 28 patients with DDHD1 mutations.

artículo científico publicado en 2014

In vivo Mechanisms of Antibody-Mediated Neurological Disorders: Animal Models and Potential Implications

artículo científico publicado en 2019

Loss of temporal retinal nerve fibers in Parkinson disease: a mitochondrial pattern?

artículo científico publicado en 2012

Lower wake resting sympathetic and cardiovascular activities in narcolepsy with cataplexy

artículo científico publicado en 2014

Microneurographic evaluation of sympathetic activity in small fiber neuropathy

article

Mitochondrial DNA and primary mitochondrial dysfunction in Parkinson's disease

artículo científico publicado en 2017

Mitochondrial dysfunction in myotonic dystrophy type 1.

artículo científico publicado en 2017

Multiple variants in families with amyotrophic lateral sclerosis and frontotemporal dementia related to C9orf72 repeat expansion: further observations on their oligogenic nature

artículo científico publicado en 2017

Muscle and skin sympathetic activities in Ross syndrome

artículo científico publicado en 2012

Muscle sympathetic response to arousal predicts neurovascular reactivity during mental stress.

artículo científico publicado en 2012

Neuronal surface antibodies are common in children with narcolepsy and active movement disorders

scientific article published on 17 September 2020

Non-paraneoplastic ataxia in a patient with contactin-associated protein-2 antibodies and benign course

scientific article published on 01 May 2015

Paraneoplastic cerebellar degeneration and lambert-eaton myasthenia in a patient with merkel cell carcinoma and voltage-gated calcium channel antibodies.

artículo científico publicado en 2016

Peripheral autonomic neuropathy: diagnostic contribution of skin biopsy

artículo científico publicado en 2012

Post-ganglionic autonomic neuropathy associated with anti-glutamic acid decarboxylase antibodies.

artículo científico publicado en 2016

Relationship of white and gray matter abnormalities to clinical and genetic features in myotonic dystrophy type 1.

artículo científico publicado en 2016

Searching for Serum Antibodies to Neuronal Proteins in Patients With Myalgic Encephalopathy/Chronic Fatigue Syndrome

scientific article published on 01 May 2019

Sensitivity and specificity of single-fibre EMG in the diagnosis of ocular myasthenia varies accordingly to clinical presentation

artículo científico publicado en 2019

Skin biopsy and I-123 MIBG scintigraphy findings in idiopathic Parkinson's disease and parkinsonism: a comparative study.

artículo científico publicado en 2015

Skin nerve misfolded α-synuclein in pure autonomic failure and Parkinson disease

artículo científico publicado en 2015

Skin nerve α-synuclein deposits: a biomarker for idiopathic Parkinson disease

artículo científico publicado en 2014

Skin sympathetic fiber α-synuclein deposits: a potential biomarker for pure autonomic failure

artículo científico publicado en 2013

Sleep and movement disorders

artículo científico publicado en 2013

Small nerve fiber involvement in patients referred for fibromyalgia

artículo científico publicado en 2014

Somatic and autonomic small fiber neuropathy induced by bortezomib therapy: an immunofluorescence study.

artículo científico publicado en 2011

Subgroup comparison according to clinical phenotype and serostatus in autoimmune encephalitis: a multicenter retrospective study

scientific article published on 14 January 2020

Sympathetic and cardiovascular changes during sleep in narcolepsy with cataplexy patients.

artículo científico publicado en 2014

The First Historically Reported Italian Family with FTD/ALS Teaches a Lesson on C9orf72 RE: Clinical Heterogeneity and Oligogenic Inheritance.

artículo científico publicado en 2018

Lista de obras de Maria Pia Giannoccaro

A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16.

Acute rhabdomyolysis induced by tonic-clonic epileptic seizures in a patient with glucose-6-phosphate dehydrogenase deficiency

Antibodies Against Hypocretin Receptor 2 Are Rare in Narcolepsy.

Antibodies to neuronal surface proteins in Tourette Syndrome: Lack of evidence in a European paediatric cohort

Antibody-mediated central nervous system diseases

Atypical late-onset hereditary spastic paraplegia with thin corpus callosum due to novel compound heterozygous mutations in the SPG11 gene.

Autonomic innervation in multiple system atrophy and pure autonomic failure

Behaviour and neuropathology in mice injected with human contactin-associated protein 2 antibodies

Combined brain positron emission tomography/magnetic resonance imaging in GABAA receptor encephalitis

Comparison of ice-pack test and single fiber EMG diagnostic accuracy in patients referred for myasthenic ptosis

Immune or Genetic-Mediated Disruption of CASPR2 Causes Pain Hypersensitivity Due to Enhanced Primary Afferent Excitability

Immunotherapy in Narcolepsy

Impairment of brain and muscle energy metabolism detected by magnetic resonance spectroscopy in hereditary spastic paraparesis type 28 patients with DDHD1 mutations.

In vivo Mechanisms of Antibody-Mediated Neurological Disorders: Animal Models and Potential Implications

Loss of temporal retinal nerve fibers in Parkinson disease: a mitochondrial pattern?

Lower wake resting sympathetic and cardiovascular activities in narcolepsy with cataplexy

Microneurographic evaluation of sympathetic activity in small fiber neuropathy

Mitochondrial DNA and primary mitochondrial dysfunction in Parkinson's disease

Mitochondrial dysfunction in myotonic dystrophy type 1.

Multiple variants in families with amyotrophic lateral sclerosis and frontotemporal dementia related to C9orf72 repeat expansion: further observations on their oligogenic nature

Muscle and skin sympathetic activities in Ross syndrome

Muscle sympathetic response to arousal predicts neurovascular reactivity during mental stress.

Neuronal surface antibodies are common in children with narcolepsy and active movement disorders

Non-paraneoplastic ataxia in a patient with contactin-associated protein-2 antibodies and benign course

Paraneoplastic cerebellar degeneration and lambert-eaton myasthenia in a patient with merkel cell carcinoma and voltage-gated calcium channel antibodies.

Peripheral autonomic neuropathy: diagnostic contribution of skin biopsy

Post-ganglionic autonomic neuropathy associated with anti-glutamic acid decarboxylase antibodies.

Relationship of white and gray matter abnormalities to clinical and genetic features in myotonic dystrophy type 1.

Searching for Serum Antibodies to Neuronal Proteins in Patients With Myalgic Encephalopathy/Chronic Fatigue Syndrome

Sensitivity and specificity of single-fibre EMG in the diagnosis of ocular myasthenia varies accordingly to clinical presentation

Skin biopsy and I-123 MIBG scintigraphy findings in idiopathic Parkinson's disease and parkinsonism: a comparative study.

Skin nerve misfolded α-synuclein in pure autonomic failure and Parkinson disease

Skin nerve α-synuclein deposits: a biomarker for idiopathic Parkinson disease

Skin sympathetic fiber α-synuclein deposits: a potential biomarker for pure autonomic failure

Sleep and movement disorders

Small nerve fiber involvement in patients referred for fibromyalgia

Somatic and autonomic small fiber neuropathy induced by bortezomib therapy: an immunofluorescence study.

Subgroup comparison according to clinical phenotype and serostatus in autoimmune encephalitis: a multicenter retrospective study

Sympathetic and cardiovascular changes during sleep in narcolepsy with cataplexy patients.

The First Historically Reported Italian Family with FTD/ALS Teaches a Lesson on C9orf72 RE: Clinical Heterogeneity and Oligogenic Inheritance.