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List of works by Mario Sabatelli

'Behr syndrome' with OPA1 compound heterozygote mutations

scientific article published on 21 August 2014

'White nails'. Skin changes in POEMS syndrome

scientific article published on 13 November 2014

A case of CMT 1B due to Val 102/fs null mutation of the MPZ gene presenting as hyperCKemia.

scientific article published on 26 May 2010

A genome-wide association study of myasthenia gravis

scientific article published on April 2015

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

scientific article

A new single-nucleotide deletion of PMP22 in an HNPP family without recurrent palsies

scientific article published on 01 August 2008

A novel GJB1 mutation in an Italian patient with Charcot-Marie-Tooth disease and pyramidal signs

scientific article published on 01 October 2011

A novel HSPB1 mutation in an Italian patient with CMT2/dHMN phenotype

scientific article published on 25 September 2010

A novel L67P SOD1 mutation in an Italian ALS patient

scientific article published on 19 January 2011

A novel compound heterozygousALS2mutation in two Italian siblings with juvenile amyotrophic lateral sclerosis

article

A novel homozygous mutation in the MTMR2 gene in two siblings with 'hypermyelinating neuropathy'.

scientific article published in June 2013

A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis

scientific article

A useful electrophysiological test for diagnosis of minimal conduction block

scientific article published in June 2001

AL amyloid neuropathy mimicking a chronic inflammatory demyelinating polyneuropathy

scientific article published on 01 February 2012

ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion

scientific article published on 8 December 2015

ATXN2 polyQ intermediate repeats are a modifier of ALS survival

scientific article published on 19 December 2014

Abnormal vascular smooth muscle cell proliferation in sural nerve biopsy from a patient with sensorimotor axonal neuropathy

scientific article published on 06 December 2010

Acute axonal idiopathic polyneuropathy: a Guillain-Barré syndrome variant?

scientific article published on 01 September 1992

Admission neurophysiological abnormalities in Guillain-Barré syndrome: A single-center experience

scientific article

An ALS-associated mutation in the FUS 3'-UTR disrupts a microRNA-FUS regulatory circuitry

scientific article published on 09 July 2014

An Italian case of hereditary myopathy with early respiratory failure (HMERF) not associated with the titin kinase domain R279W mutation.

scientific article

An Italian family with inclusion-body myopathy and frontotemporal dementia due to mutation in the VCP gene.

scientific article published in January 2008

Autosomal recessive hypermyelinating neuropathy

scientific article published on 01 January 1994

Botulinum toxin A versus B in sialorrhea: A prospective, randomized, double-blind, crossover pilot study in patients with amyotrophic lateral sclerosis or Parkinson's disease

scientific article published on 21 January 2011

Botulinum toxin B ultrasound-guided injections for sialorrhea in amyotrophic lateral sclerosis and Parkinson's disease

scientific article published on 27 June 2006

C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population

scientific article

CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients

scientific article

Charcot-Marie-Tooth type 2 and distal hereditary motor neuropathy: Clinical, neurophysiological and genetic findings from a single-centre experience

scientific article

Chronic GM2 gangliosidosis type Sandhoff associated with a novel missense HEXB gene mutation causing a double pathogenic effect

scientific article published on 23 January 2007

Classification of familial amyotrophic lateral sclerosis by family history: effects on frequency of genes mutation

scientific article published on 08 July 2012

Clinical and genetic heterogeneity of amyotrophic lateral sclerosis

scientific article published on 12 March 2013

Clinical and pathological heterogeneity in a series of 31 patients with IgM-related neuropathy.

scientific article published on 25 May 2012

Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72.

scientific article published on March 2012

Clinical features and outcomes of the flail arm and flail leg and pure lower motor neuron MND variants: a multicentre Italian study

scientific article published on 10 July 2020

Clinical, electrophysiological and pathological findings in a patient with Charcot-Marie-Tooth disease 4D caused by the NDRG1 Lom mutation.

scientific article published on 30 July 2014

Clinical, electrophysiological and pathological findings of a patient with CMT2 due to the p.Ala738Val mitofusin 2 mutation

scientific article published on 20 May 2011

Clinical, neurophysiological and pathological findings of HNPP patients with 17p12 deletion: a single-centre experience.

scientific article published on 31 March 2014

Clinical-neurophysiological correlations in a series of patients with IgM-related neuropathy

scientific article published in May 2013

Consistent bone marrow-derived cell mobilization following repeated short courses of granulocyte-colony-stimulating factor in patients with amyotrophic lateral sclerosis: results from a multicenter prospective trial

scientific article

Contribution of major amyotrophic lateral sclerosis genes to the etiology of sporadic disease

scientific article published on 20 June 2012

Cranial botulism ⬇️

scientific article published on June 23, 2012

D11Y SOD1 mutation and benign ALS: a consistent genotype-phenotype correlation

scientific article published on 11 August 2011

Demyelinating encephalomyeloradiculitis with Balò-like lesions

scientific article published on 30 March 2010

Differential electrophysiological features of neuropathies associated with 17p11.2 deletion and duplication

scientific article published in June 1995

Distinct lymphocytes subsets in IgM-related neuropathy: clinical-immunological correlations

scientific article published on 06 September 2014

Early diagnosis followed by front-line autologous peripheral blood stem cell transplantation for patients affected by POEMS syndrome

scientific article published on 22 January 2008

Efficacy of lenalidomide plus dexamethasone for POEMS syndrome relapsed after autologous peripheral stem-cell transplantation.

scientific article published on 10 April 2012

Epstein-Barr virus antibodies in serum and cerebrospinal fluid from multiple sclerosis, chronic inflammatory demyelinating polyradiculoneuropathy and amyotrophic lateral sclerosis.

scientific article published on 26 May 2010

Erratum to "Charcot-Marie-Tooth type 2 and distal hereditary motor neuropathy: Clinical, neurophysiological and genetic findings from a single-centre experience" [Clin. Neurol. Neurosurg. 144 (2016) 67-71]

scientific article published on 02 June 2016

Erratum to: Monitoring effectiveness and safety of Tafamidis in transthyretin amyloidosis in Italy: a longitudinal multicenter study in a non-endemic area

scientific article published on 01 May 2016

Exome sequencing reveals VCP mutations as a cause of familial ALS

scientific article

FUS mutations in sporadic amyotrophic lateral sclerosis

scientific article

Flow Cytofluorimetric Analysis of Anti-LRP4 (LDL Receptor-Related Protein 4) Autoantibodies in Italian Patients with Myasthenia Gravis.

scientific article published on 18 August 2015

Founder effect hypothesis of D11Y SOD1 mutation in Italian amyotrophic lateral sclerosis patients

article

Frequency and time to relapse after discontinuing 6-month therapy with IVIg or pulsed methylprednisolone in CIDP.

scientific article

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

scientific article

Frontotemporal dementia, Parkinsonism and lower motor neuron involvement in a patient with C9ORF72 expansion

scientific article published on 18 June 2012

Gadolinium enhancement of the lumbar leptomeninges and roots in a case of ALS

scientific article published in August 2010

Genetic counselling in ALS: facts, uncertainties and clinical suggestions

scientific article published on 06 July 2013

Giant axonal neuropathy: report on a case with focal fiber loss

scientific article published on 01 January 1992

HFE p.H63D polymorphism does not influence ALS phenotype and survival

scientific article published on 18 June 2015

Hereditary motor and sensory neuropathy with calf hypertrophy is associated with 17p 11.2 duplication

scientific article published on 01 May 1994

Heterogeneity of root and nerve ultrasound pattern in CIDP patients

scientific article published on 05 October 2013

Heterozygous SOD1 D90A mutation presenting as slowly progressive predominant upper motor neuron amyotrophic lateral sclerosis

scientific article published on 15 August 2009

Hypermyelinating neuropathy, mental retardation and epilepsy in a case of merosin deficiency

scientific article

Influence of comorbidities on the phenotype of patients affected by Charcot-Marie-Tooth neuropathy type 1A

scientific article published on 23 July 2013

Inherited neuropathies and deafness caused by a PMP22 point mutation: a case report and a review of the literature.

scientific article published on 24 December 2012

Intravenous immunoglobulin versus intravenous methylprednisolone for chronic inflammatory demyelinating polyradiculoneuropathy: a randomised controlled trial ⬇️

scientific article published on May 10, 2012

Letter: faecal microbiota transplantation in combination with fidaxomicin to treat severe complicated recurrent Clostridium difficile infection.

scientific article

Light chain deposition in peripheral nerve as a cause of mononeuritis multiplex in Waldenström's macroglobulinaemia.

scientific article published on 10 February 2010

Lithium carbonate in amyotrophic lateral sclerosis: lack of efficacy in a dose-finding trial

scientific article published on 11 August 2010

Long-term motor cortex stimulation for amyotrophic lateral sclerosis

scientific article published on 22 May 2009

MRI neurography findings in patients with idiopathic brachial plexopathy: correlations with clinical-neurophysiological data in eight consecutive cases

scientific article

Mitochondrial network genes in the skeletal muscle of amyotrophic lateral sclerosis patients

scientific article

Monitoring effectiveness and safety of Tafamidis in transthyretin amyloidosis in Italy: a longitudinal multicenter study in a non-endemic area

scientific article published on 16 March 2016

Monophasic demyelinating disease of the central nervous system associated with Hepatitis A infection

scientific article published on 24 May 2006

Motor cortex stimulation for ALS: a double blind placebo-controlled study

scientific article published on 12 August 2009

Motor cortex stimulation for amyotrophic lateral sclerosis. Time for a therapeutic trial?

scientific article

Multinevritis of cranial nerves following inhalation of toxins.

scientific article published in March 2003

Mutations in the 3' untranslated region of FUS causing FUS overexpression are associated with amyotrophic lateral sclerosis.

scientific article published on 11 July 2013

Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis

scientific article published on 26 September 2014

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

scientific article (publication date: May 2014)

NEUROLOGIC IMPROVEMENT AFTER PERIPHERAL BLOOD STEM CELL TRANSPLANTATION IN POEMS

Natural history of young-adult amyotrophic lateral sclerosis

scientific article

Nerve ultrasound findings in neuropathy associated with anti-myelin-associated glycoprotein antibodies

scientific article published on 01 September 2014

Nerve ultrasound in patients with CMT1C: description of 3 cases

scientific article published on 01 May 2015

Neuromyelitis optica spectrum disorder as a paraneoplastic manifestation of lung adenocarcinoma expressing aquaporin-4.

scientific article published on 25 February 2015

Neuromyopathy and restrictive cardiomyopathy with accumulation of intermediate filaments: a clinical, morphological and biochemical study.

scientific article

Neuropathy with predominant small fiber involvement associated with abnormal anti-MAG titer

scientific article published on 01 December 2010

New ALS-Related Genes Expand the Spectrum Paradigm of Amyotrophic Lateral Sclerosis

scientific article

Nutritional and metabolic support in patients with amyotrophic lateral sclerosis

scientific article published on 05 June 2012

Occurrence of nerve entrapment lesion in chronic inflammatory demyelinating polyneuropathy

scientific article published in May 2004

Ophthalmoplegia, demyelinating neuropathy, leukoencephalopathy, myopathy, and gastrointestinal dysfunction with multiple deletions of mitochondrial DNA: a mitochondrial multisystem disorder in search of a name

scientific article published on 01 June 1994

P525L FUS mutation is consistently associated with a severe form of juvenile amyotrophic lateral sclerosis.

scientific article published on 9 September 2011

Peripheral neuropathy and 46XY gonadal dysgenesis: confirmation of a heterogeneous entity

scientific article published on 30 December 2011

Peripheral neuropathy with giant axons and cardiomyopathy associated with desmin type intermediate filaments in skeletal muscle

scientific article published on May 1992

Peripheral neuropathy with hypomyelinating features in adult-onset Krabbe's disease

scientific article

Peripheral sensory-motor polyneuropathy, pigmentary retinopathy, and fatal cardiomyopathy in long-chain 3-hydroxy-acyl-CoA dehydrogenase deficiency

scientific article published on 01 February 1992

Posterior ischaemic myelopathy associated with cocaine abuse

scientific article published on October 1, 2010

Primary fibroblasts cultures reveal TDP-43 abnormalities in amyotrophic lateral sclerosis patients with and without SOD1 mutations

scientific article

Primary multifocal lymphoma of peripheral nervous system: case report and review of the literature

scientific article published on 30 October 2014

Progressive ascending myelopathy: atypical forms of multiple sclerosis or what else?

scientific article published on 22 April 2011

Progressive multifocal leukoencephalopathy in a patient with Franklin disease and hypogammaglobulinemia.

scientific article published on 9 May 2009

Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadic amyotrophic lateral sclerosis

scientific article

Repeated courses of granulocyte colony-stimulating factor in amyotrophic lateral sclerosis: Clinical and biological results from a prospective multicenter study

scientific article published on 01 February 2011

Repetitive transcranial magnetic stimulation for ALS. A preliminary controlled study

scientific article published on 18 September 2006

Replication of association of CHRNA4 rare variants with sporadic amyotrophic lateral sclerosis: the Italian multicentre study

scientific article

Response to: SOD1 mutations in adult-onset distal spinal muscular atrophy

scientific article published on 02 July 2020

Retinal detachment with an unusual shape

scientific article published in October 2009

Rituximab in patients with chronic inflammatory demyelinating polyradiculoneuropathy: a report of 13 cases and review of the literature.

scientific article published on 16 July 2010

SOD1 G93D mutation presenting as paucisymptomatic amyotrophic lateral sclerosis.

scientific article published in October 2009

SOD1 G93D sporadic amyotrophic lateral sclerosis (SALS) patient with rapid progression and concomitant novel ANG variant

scientific article published on 28 May 2011

SOD1 p.D12Y variant is associated with ALS/distal myopathy spectrum

scientific article published on 06 April 2020

Seipin S90L mutation in an Italian family with CMT2/dHMN and pyramidal signs.

scientific article published on September 2010

Sensitivity and specificity of diagnostic criteria for conduction block in chronic inflammatory demyelinating polyneuropathy

scientific article published on 01 June 1993

Sural nerve pathology in ALS patients: a single-centre experience

scientific article published on 28 December 2011

TTR-related amyloid neuropathy: clinical, electrophysiological and pathological findings in 15 unrelated patients

scientific article

Teaching NeuroImage: MRI of diabetic lumbar plexopathy treated with local steroid injection

scientific article published in February 2009

Teaching NeuroImages: cochleitis: a rare cause of acute deafness in a patient with HCV.

scientific article published in November 2011

Teaching NeuroImages: the full-blown neuroimaging of Wernicke encephalopathy.

scientific article published in June 2009

Teaching neuroimages: Peroneal intraneural ganglion cyst: a rare cause of drop foot in a child

scientific article published on 01 February 2012

Triple A syndrome: a novel compound heterozygous mutation in the AAAS gene in an Italian patient without adrenal insufficiency

scientific article published on 06 January 2010

Tuberculous nephritis accompanying neuromyelitis optica: causal or coincidental association?

scientific article published on 27 March 2014

Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation

scientific article published on 17 May 2009

Ultrasound evaluation in transthyretin-related amyloid neuropathy

scientific article published on 16 June 2014

Ultrasound visualization of nerve morphological alteration at the site of conduction block

scientific article published on 01 December 2009

Uncovering amyotrophic lateral sclerosis phenotypes: Clinical features and long-term follow-up of upper motor neuron-dominant ALS

scientific article published on 01 July 2011

pSTAT1, pSTAT3, and T-bet as markers of disease activity in chronic inflammatory demyelinating polyradiculoneuropathy

scientific article published on 01 June 2009

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