Search Results - "PIA GIANNOCCARO, Maria"
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Mitochondrial DNA and primary mitochondrial dysfunction in Parkinson's disease
Published in Movement disorders (01-03-2017)“…ABSTRACT In 1979, it was observed that parkinsonism could be induced by a toxin inhibiting mitochondrial respiratory complex I. This initiated the…”
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2
Prognostic value of EMG genioglossus involvement in amyotrophic lateral sclerosis
Published in Clinical neurophysiology (01-10-2021)“…•EMG genioglossus involvement at diagnosis is associated with a shorter disease duration in ALS.•Genioglossus EMG is a stronger prognostic factor that the…”
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3
Sensitivity and specificity of single-fibre EMG in the diagnosis of ocular myasthenia varies accordingly to clinical presentation
Published in Journal of neurology (01-03-2020)“…Background and purpose Single-fibre electromyography (SF-EMG) is considered as the most sensitive test for the diagnosis of MG. However, previous studies had…”
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4
In vivo Mechanisms of Antibody-Mediated Neurological Disorders: Animal Models and Potential Implications
Published in Frontiers in neurology (05-02-2020)“…Over the last two decades, the discovery of antibodies directed against neuronal surface antigens (NSA-Abs) in patients with different forms of encephalitis…”
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5
Presynaptic Paraneoplastic Disorders of the Neuromuscular Junction: An Update
Published in Brain sciences (03-08-2021)“…The neuromuscular junction (NMJ) is the target of a variety of immune-mediated disorders, usually classified as presynaptic and postsynaptic, according to the…”
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Post-Infectious Autoimmunity in the Central (CNS) and Peripheral (PNS) Nervous Systems: An African Perspective
Published in Frontiers in immunology (09-03-2022)“…The direct impact and sequelae of infections in children and adults result in significant morbidity and mortality especially when they involve the central…”
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Neural Surface Antibodies and Neurodegeneration: Clinical Commonalities and Pathophysiological Relationships
Published in Biomedicines (22-02-2023)“…Autoimmune encephalitis and neurodegenerative disorders share several clinical features, including behavioural and psychiatric manifestations, cognitive…”
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Relationship of white and gray matter abnormalities to clinical and genetic features in myotonic dystrophy type 1
Published in NeuroImage clinical (01-01-2016)“…Myotonic dystrophy type 1 (DM1) represents a multisystemic disorder in which diffuse brain white and gray matter alterations related to clinical and genetic…”
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9
Peripheral Autonomic Neuropathy: Diagnostic Contribution of Skin Biopsy
Published in Journal of neuropathology and experimental neurology (01-11-2012)“…ABSTRACTSkin biopsy has gained widespread use for the diagnosis of somatic small-fiber neuropathy, but it also provides information on sympathetic fiber…”
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10
A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16
Published in Human molecular genetics (15-05-2011)“…Dominant optic atrophy (DOA) is genetically heterogeneous and pathogenic mutations have been identified in the OPA1 and OPA3 genes, both encoding for…”
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11
Antibody-mediated central nervous system diseases
Published in Brain and Neuroscience Advances (01-01-2018)“…Antibody-mediated central nervous system diseases are a relatively new area of clinical neuroscience with growing impact. Their recognition has challenged the…”
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Microneurographic evaluation of sympathetic activity in small fiber neuropathy
Published in Clinical neurophysiology (01-09-2011)“…Highlights ► SSR and SVR could help to disclose autonomic involvement in small fiber neuropathy. ► First study reporting microneurography, SSR and SVR in small…”
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13
Somatic and autonomic small fiber neuropathy induced by bortezomib therapy: an immunofluorescence study
Published in Neurological sciences (01-04-2011)“…Bortezomib is a new chemotherapeutic agent approved for the treatment of relapsed/refractory and newly diagnosed multiple myeloma. One of the major side…”
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14
Author Response: Comparison of Ice Pack Test and Single-Fiber EMG Diagnostic Accuracy in Patients Referred for Myasthenic Ptosis
Published in Neurology (11-05-2021)Get full text
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15
Skin nerve misfolded [alpha]-synuclein in pure autonomic failure and Parkinson disease
Published in Annals of neurology (01-02-2016)“…Objective To characterize the expression in skin nerves of native (n-syn) and misfolded phosphorylated (p-syn) [alpha]-synucleins in pure autonomic failure…”
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Skin nerve misfolded α-synuclein in pure autonomic failure and Parkinson disease
Published in Annals of neurology (01-02-2016)“…Objective To characterize the expression in skin nerves of native (n‐syn) and misfolded phosphorylated (p‐syn) α‐synucleins in pure autonomic failure (PAF) and…”
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Skin nerve α-synuclein deposits: A biomarker for idiopathic Parkinson disease
Published in Neurology (15-04-2014)“…OBJECTIVE:To investigate (1) whether phosphorylated α-synuclein deposits in skin nerve fibers might represent a useful biomarker for idiopathic Parkinson…”
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FADD gene pathogenic variants causing recurrent febrile infection‐related epilepsy syndrome: Case report and literature review
Published in Epilepsia (Copenhagen) (01-07-2024)“…FIRES and NORSE are clinical presentations of disease processes that, to date, remain unexplained without an established etiology in many cases…”
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Comparison of ice pack test and single-fiber EMG diagnostic accuracy in patients referred for myasthenic ptosis
Published in Neurology (29-09-2020)“…OBJECTIVETo compare the diagnostic accuracy of ice pack test (IPT) and single-fiber EMG (SF-EMG) in patients with suspected ocular myasthenia (OM) presenting…”
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20
Small nerve fiber involvement in patients referred for fibromyalgia
Published in Muscle & nerve (01-05-2014)“…ABSTRACT Introduction: Fibromyalgia (FM) is a chronic syndrome characterized by widespread pain often accompanied by other symptoms suggestive of neuropathic…”
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