List of works - Carmelo Rodolico

"Dropped-head" syndrome due to isolated myositis of neck extensor muscles: MRI findings

scientific article published on 12 October 2005

A family with autosomal dominant mutilating neuropathy not linked to either Charcot-Marie-Tooth disease type 2B (CMT2B) or hereditary sensory neuropathy type I (HSN I) loci

scientific article published on 01 March 2002

A standardized clinical evaluation of patients affected by facioscapulohumeral muscular dystrophy: The FSHD clinical score

scientific article published on 01 August 2010

ANT1 is reduced in sporadic inclusion body myositis.

scientific article published on 21 February 2012

Acute motor axonal polyneuropathy after a cisatracurium infusion and concomitant corticosteroid therapy.

scientific article

Amyloid myopathy presenting with rhabdomyolysis: evidence of complement activation

scientific article published on 21 August 2006

Analysis of NCAM helps identify unusual phenotypes of hereditary inclusion-body myopathy

scientific article published on 01 July 2010

Anti-GAD-associated inflammatory myopathy presenting with dropped head syndrome

scientific article published on 28 May 2015

Apoptosis and apoptosis-related proteins in thyroid myopathies.

scientific article

Ataxin-1 and ataxin-2 intermediate-length PolyQ expansions in amyotrophic lateral sclerosis

scientific article published on 28 November 2012

Axial myopathy in myasthenia: A misleading cause of dropped head

scientific article published in 2004

C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population

scientific article

Calpain 3 deficiency in Quail Eater's disease

scientific article published in 2003

Cardiovascular autonomic control in Becker muscular dystrophy

scientific article published on 01 May 2001

Central and peripheral autonomic failure in cold-induced sweating syndrome type 1.

scientific article published on October 2010

Charcot-Marie-Tooth disease type 1B: marked phenotypic variation of the Ser78Leu mutation in five Italian families.

scientific article

Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment

scientific article published on 12 February 2015

Clinical and muscle magnetic resonance imaging study of an Italian family with autosomal dominant inclusion body myopathy not linked to known genetic loci

scientific article published in December 2005

Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1-3 D4Z4 reduced alleles: experience of the FSHD Italian National Registry

scientific article

Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII) ⬇️

scientific article published on November 30, 2011

Clinical, Molecular, and Functional Characterization of CLCN1 Mutations in Three Families with Recessive Myotonia Congenita

scientific journal article

Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients

scientific article published in February 2008

Comparison of different techniques for detecting 17p12 duplication in CMT1A

scientific article published on 01 July 2005

Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations

Expression of cytoskeleton proteins in central core disease.

scientific article published in June 1994

Expression of transglutaminase 2 does not differentiate focal myositis from generalized inflammatory myopathies

scientific article published on 14 November 2007

FUS mutations in sporadic amyotrophic lateral sclerosis: Clinical and genetic analysis

scientific article published on 04 November 2011

Genotype–phenotype correlations in valosin-containing protein disease: a retrospective muticentre study

scientific article published in 2022

Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect

scientific article

Hypnic headache responsive to low-dose topiramate: a case report.

scientific article

Identification of the infant-type R631C mutation in patients with the benign muscular form of CPT2 deficiency

scientific article published in December 2007

Infantile spinal muscular atrophy with respiratory distress type I (SMARD 1): An atypical phenotype and review of the literature ⬇️

scientific article published on November 18, 2011

Interpretation of the Epigenetic Signature of Facioscapulohumeral Muscular Dystrophy in Light of Genotype-Phenotype Studies

scientific article published on 10 April 2020

Ischemic stroke due to hypoperfusion in a patient with a previously unrecognized Danon disease

scientific article published on 5 October 2016

Italian recommendations for Lambert-Eaton myasthenic syndrome (LEMS) management

scientific article published on 31 January 2014

Juvenile limb-girdle myasthenia gravis

scientific article published on 01 December 2005

Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy

scientific article published on 11 September 2013

Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy

scientific article

Late-onset Pompe disease (LOPD): correlations between respiratory muscles CT and MRI features and pulmonary function

scientific article

Limb-girdle myasthenia: clinical, electrophysiological and morphological features in familial and autoimmune cases

scientific article published in December 2002

Long-Term Follow-Up in Infantile-Onset Lambert-Eaton Myasthenic Syndrome

scientific article published on 10 October 2013

Long-term follow-up in patients with congenital myasthenic syndrome due to CHAT mutations

scientific article published on 8 November 2009

MR imaging findings of focal myositis: a pseudotumour that may mimic muscle neoplasm

scientific article published on 03 March 2009

MRI findings of neutrophilic fasciitis in a patient with acute febrile neutrophilic dermatosis (Sweet's syndrome)

scientific article published on 06 February 2011

Molecular analysis of LGMD-2B and MM patients: identification of novel DYSF mutations and possible founder effect in the Italian population

scientific article (publication date: December 2003)

Multifocal motor neuropathy and asymptomatic Hashimoto's thyroiditis: first report of an association

scientific article published on 01 August 2002

Muscle fat fraction in neuromuscular disorders: dual-echo dual-flip-angle spoiled gradient-recalled MR imaging technique for quantification--a feasibility study

scientific article published on 28 January 2011

Muscle imaging findings in GNE myopathy.

scientific article published on 10 January 2012

Myoglobinuria as first clinical sign of a primary alpha-sarcoglycanopathy.

scientific article published on 30 August 2013

New mutations in TK2 gene associated with mitochondrial DNA depletion.

scientific article published in March 2006

Novel SHOX gene mutation in a short boy with Becker muscular dystrophy: double trouble in two adjacent genes

scientific article published on 05 December 2007

Novel donor splice site mutations of AGL gene in glycogen storage disease type IIIa

scientific article published in 1999

Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers

scientific article published on 17 February 2016

Perineurium talin immunoreactivity decreases in diabetic neuropathy

scientific article published on 01 February 1997

Phenotypic clustering of lamin A/C mutations in neuromuscular patients.

scientific article published on 21 March 2007

RAGE-NF-kappaB pathway activation in response to oxidative stress in facioscapulohumeral muscular dystrophy

scientific article published on 01 February 2007

Rare among Rare: Phenotypes of Uncommon CMT Genotypes

scientific article published on 10 December 2021

Recurrent rhabdomyolysis due to muscle β-enolase deficiency: very rare or underestimated?

scientific article

Skeletal muscle disturbances may precede clinical and laboratory evidence of autoimmune hypothyroidism

scientific article published on 01 August 1998

Specific matrix metalloproteinase expression in focal myositis: an immunopathological study

scientific article published in September 2005

Sporadic late-onset nemaline myopathy in a woman with multiple myeloma successfully treated with lenalidomide/dexamethasone

scientific article published on 05 January 2015

Stiffness as a presenting symptom of an odd clinical condition caused by multiple sclerosis and myotonia congenita

scientific article published on 24 August 2012

Telomere shortening is associated to TRF1 and PARP1 overexpression in Duchenne muscular dystrophy

scientific article published in December 2011

The empowerment of translational research: lessons from laminopathies.

scientific article

The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients

scientific article published on 08 June 2016

Toward a more personalized motor function rehabilitation in Myotonic dystrophy type 1: The role of neuroplasticity

scientific article

Wound botulism in drug users: a still underestimated diagnosis

scientific article published on 15 June 2010

List of works by Carmelo Rodolico

"Dropped-head" syndrome due to isolated myositis of neck extensor muscles: MRI findings

A family with autosomal dominant mutilating neuropathy not linked to either Charcot-Marie-Tooth disease type 2B (CMT2B) or hereditary sensory neuropathy type I (HSN I) loci

A standardized clinical evaluation of patients affected by facioscapulohumeral muscular dystrophy: The FSHD clinical score

ANT1 is reduced in sporadic inclusion body myositis.

Acute motor axonal polyneuropathy after a cisatracurium infusion and concomitant corticosteroid therapy.

Amyloid myopathy presenting with rhabdomyolysis: evidence of complement activation

Analysis of NCAM helps identify unusual phenotypes of hereditary inclusion-body myopathy

Anti-GAD-associated inflammatory myopathy presenting with dropped head syndrome

Apoptosis and apoptosis-related proteins in thyroid myopathies.

Ataxin-1 and ataxin-2 intermediate-length PolyQ expansions in amyotrophic lateral sclerosis

Axial myopathy in myasthenia: A misleading cause of dropped head

C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population

Calpain 3 deficiency in Quail Eater's disease

Cardiovascular autonomic control in Becker muscular dystrophy

Central and peripheral autonomic failure in cold-induced sweating syndrome type 1.

Charcot-Marie-Tooth disease type 1B: marked phenotypic variation of the Ser78Leu mutation in five Italian families.

Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment

Clinical and muscle magnetic resonance imaging study of an Italian family with autosomal dominant inclusion body myopathy not linked to known genetic loci

Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1-3 D4Z4 reduced alleles: experience of the FSHD Italian National Registry

Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII) ⬇️

Clinical, Molecular, and Functional Characterization of CLCN1 Mutations in Three Families with Recessive Myotonia Congenita

Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients

Comparison of different techniques for detecting 17p12 duplication in CMT1A

Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations

Expression of cytoskeleton proteins in central core disease.

Expression of transglutaminase 2 does not differentiate focal myositis from generalized inflammatory myopathies

FUS mutations in sporadic amyotrophic lateral sclerosis: Clinical and genetic analysis

Genotype–phenotype correlations in valosin-containing protein disease: a retrospective muticentre study

Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect

Hypnic headache responsive to low-dose topiramate: a case report.

Identification of the infant-type R631C mutation in patients with the benign muscular form of CPT2 deficiency

Infantile spinal muscular atrophy with respiratory distress type I (SMARD 1): An atypical phenotype and review of the literature ⬇️

Interpretation of the Epigenetic Signature of Facioscapulohumeral Muscular Dystrophy in Light of Genotype-Phenotype Studies

Ischemic stroke due to hypoperfusion in a patient with a previously unrecognized Danon disease

Italian recommendations for Lambert-Eaton myasthenic syndrome (LEMS) management

Juvenile limb-girdle myasthenia gravis

Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy

Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy

Late-onset Pompe disease (LOPD): correlations between respiratory muscles CT and MRI features and pulmonary function

Limb-girdle myasthenia: clinical, electrophysiological and morphological features in familial and autoimmune cases

Long-Term Follow-Up in Infantile-Onset Lambert-Eaton Myasthenic Syndrome

Long-term follow-up in patients with congenital myasthenic syndrome due to CHAT mutations

MR imaging findings of focal myositis: a pseudotumour that may mimic muscle neoplasm

MRI findings of neutrophilic fasciitis in a patient with acute febrile neutrophilic dermatosis (Sweet's syndrome)

Molecular analysis of LGMD-2B and MM patients: identification of novel DYSF mutations and possible founder effect in the Italian population

Multifocal motor neuropathy and asymptomatic Hashimoto's thyroiditis: first report of an association

Muscle fat fraction in neuromuscular disorders: dual-echo dual-flip-angle spoiled gradient-recalled MR imaging technique for quantification--a feasibility study

Muscle imaging findings in GNE myopathy.

Myoglobinuria as first clinical sign of a primary alpha-sarcoglycanopathy.

New mutations in TK2 gene associated with mitochondrial DNA depletion.

Novel SHOX gene mutation in a short boy with Becker muscular dystrophy: double trouble in two adjacent genes

Novel donor splice site mutations of AGL gene in glycogen storage disease type IIIa

Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers

Perineurium talin immunoreactivity decreases in diabetic neuropathy

Phenotypic clustering of lamin A/C mutations in neuromuscular patients.

RAGE-NF-kappaB pathway activation in response to oxidative stress in facioscapulohumeral muscular dystrophy

Rare among Rare: Phenotypes of Uncommon CMT Genotypes

Recurrent rhabdomyolysis due to muscle β-enolase deficiency: very rare or underestimated?

Skeletal muscle disturbances may precede clinical and laboratory evidence of autoimmune hypothyroidism

Specific matrix metalloproteinase expression in focal myositis: an immunopathological study

Sporadic late-onset nemaline myopathy in a woman with multiple myeloma successfully treated with lenalidomide/dexamethasone

Stiffness as a presenting symptom of an odd clinical condition caused by multiple sclerosis and myotonia congenita

Telomere shortening is associated to TRF1 and PARP1 overexpression in Duchenne muscular dystrophy

The empowerment of translational research: lessons from laminopathies.

The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients

Toward a more personalized motor function rehabilitation in Myotonic dystrophy type 1: The role of neuroplasticity

Wound botulism in drug users: a still underestimated diagnosis