Search Results - "Sabatelli, M."
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Clinical and genetic heterogeneity of amyotrophic lateral sclerosis
Published in Clinical genetics (01-05-2013)“…Although clinical picture of amyotrophic lateral sclerosis (ALS) is a stereotypical one, resulting from combination of signs secondary to dysfunction of both…”
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Response to: SOD1 mutations in adult‐onset distal spinal muscular atrophy
Published in European journal of neurology (01-11-2020)Get full text
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Monitoring effectiveness and safety of Tafamidis in transthyretin amyloidosis in Italy: a longitudinal multicenter study in a non-endemic area
Published in Journal of neurology (01-05-2016)“…Tafamidis is a transthyretin (TTR) stabilizer able to prevent TTR tetramer dissociation. There have been a few encouraging studies on Tafamidis efficacy in…”
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Generation of induced pluripotent stem cells (CSSi017-A)(12862) from an ALS patient carrying a repeat expansion in the C9orf72 gene
Published in Stem cell research (01-06-2024)“…Genetic expansions of the hexanucleotide repeats (GGGGCC) in the C9orf72 gene appear in approximately 40% of patients with familial ALS and 7% of patients with…”
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Rituximab in patients with chronic inflammatory demyelinating polyradiculoneuropathy: a report of 13 cases and review of the literature
Published in Journal of neurology, neurosurgery and psychiatry (01-03-2011)“…BackgroundA few case reports have shown controversial results of rituximab efficacy in patients with chronic inflammatory demyelinating polyradiculoneuropathy…”
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Immunosuppressive treatment in refractory chronic inflammatory demyelinating polyradiculoneuropathy. A nationwide retrospective analysis
Published in European journal of neurology (01-12-2011)“…Background and purpose: There are other options open to patients with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) who are non‐responders…”
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Induced pluripotent stem cell production (CSSi019-A)(14432) from an asymptomatic subject carrying a expansion of C9orf72 gene
Published in Stem cell research (01-12-2024)“…One of the genetic mutations most associated with the onset of amyotrophic lateral sclerosis, both in sporadic and familial cases, is the expansion of the…”
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Natural history of young-adult amyotrophic lateral sclerosis
Published in Neurology (16-09-2008)“…Amyotrophic lateral sclerosis (ALS) affects people of all ages, but whether the wide range of age at onset is due to distinct diseases or merely reflects…”
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SOD1 p.D12Y variant is associated with amyotrophic lateral sclerosis/distal myopathy spectrum
Published in European journal of neurology (01-07-2020)“…Background and purpose The aim of our study was to describe patients with the p.D12Y variant (previously reported as D11Y) in SOD1 showing heterogeneous…”
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Nerve ultrasound findings in neuropathy associated with anti-myelin-associated glycoprotein antibodies
Published in European journal of neurology (01-01-2015)“…Background and purpose No systematic nerve ultrasound (US) studies on patients with neuropathy and anti‐myelin‐associated glycoprotein (anti‐MAG) antibodies…”
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Cardiovascular diseases may play a negative role in the prognosis of amyotrophic lateral sclerosis
Published in European journal of neurology (01-06-2018)“…Background and purpose Only a few studies have considered the role of comorbidities in the prognosis of amyotrophic lateral sclerosis (ALS) and have provided…”
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A nationwide retrospective analysis on the effect of immune therapies in patients with chronic inflammatory demyelinating polyradiculoneuropathy
Published in European journal of neurology (01-02-2010)“…Background and purpose: The guidelines for chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) therapy suggest to use immunoglobulins (IVIg) and…”
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Heterogeneity of root and nerve ultrasound pattern in CIDP patients
Published in Clinical neurophysiology (01-01-2014)“…Highlights • Ultrasound (US) shows heterogeneity of nerve appearance in CIDP patients; three US patterns were identified. • US heterogeneity may mirror the…”
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Ultrasound visualization of nerve morphological alteration at the site of conduction block
Published in Muscle & nerve (01-12-2009)Get full text
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Lithium carbonate in amyotrophic lateral sclerosis: Lack of efficacy in a dose-finding trial
Published in Neurology (17-08-2010)“…A neuroprotective effect of lithium in amyotrophic lateral sclerosis (ALS) has been recently reported. We performed a multicenter trial with lithium carbonate…”
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Spontaneous and inoculated yeast populations dynamics and their effect on organoleptic characters of Vinsanto wine under different process conditions
Published in International journal of food microbiology (20-04-2007)“…Evolution of the microbial composition during the production of Vinsanto wine was investigated under different fermentation conditions to determine their…”
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Teaching neuroimages: Peroneal intraneural ganglion cyst: a rare cause of drop foot in a child
Published in Neurology (14-02-2012)Get full text
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103. Nerve ultrasound findings in neuropathy associated with anti-mag antibodies
Published in Clinical neurophysiology (01-01-2015)“…We studied patients with neuropathy and anti-myelin-associated glycoprotein antibodies nerve ultrasound (US). 28 patients with anti-MAG neuropathy underwent…”
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Clinical and pathological heterogeneity in a series of 31 patients with IgM-related neuropathy
Published in Journal of the neurological sciences (15-08-2012)“…Abstract Background IgM-related neuropathy generally presents as a late-onset demyelinating polyneuropathy with predominant sensory loss and ataxia. Sporadic…”
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