Lista de obras - Roberto Massa - Dominio Público Uruguay

A case of fulminant subacute sclerosing panencephalitis presenting with acute myoclonic-astatic epilepsy

artículo científico publicado en 2017

A novel LITAF/SIMPLE mutation within a family with a demyelinating form of Charcot-Marie-Tooth disease

artículo científico publicado en 2014

ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.

artículo científico publicado en 2015

Aberrant splicing and expression of the non muscle myosin heavy-chain gene MYH14 in DM1 muscle tissues

article

Active muscle length reduction progressively damages soleus in hindlimb-suspended rabbits.

artículo científico publicado en 1992

Adrenomyeloneuropathy partially responsive to steroid pulse therapy

artículo científico publicado en 2002

An Age-Standardized Prevalence Estimate and a Sex and Age Distribution of Myotonic Dystrophy Types 1 and 2 in the Rome Province, Italy

artículo científico publicado en 2016

Aquaporin 4 expression in human skeletal muscle fiber types.

artículo científico publicado en 2017

Association of HLA-DQB1∗05:02 and DRB1∗16 Alleles with Late-Onset, Nonthymomatous, AChR-Ab-Positive Myasthenia Gravis

artículo científico publicado en 2012

Brain MR diffusion tensor imaging in Kennedy's disease

artículo científico publicado en 2015

Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy

artículo científico publicado en 2015

Cutaneous features of myotonic dystrophy types 1 and 2: Implication of premature aging and vitamin D homeostasis.

artículo científico publicado en 2016

Delayed focal involvement of upper motor neurons in the Madras pattern of motor neuron disease

artículo científico publicado en 1998

Diagnosis, treatment and follow-up of the carpal tunnel syndrome: a review

artículo científico publicado en 2010

Differential features of muscle fiber atrophy in osteoporosis and osteoarthritis

artículo científico publicado en 2012

Dopamine denervation induces neurotensin immunoreactivity in GABA-parvalbumin striatal neurons.

artículo científico publicado en 2001

Dystrophin is not essential for the integrity of the cytoskeleton

artículo científico publicado en 1994

Early subclinical cochlear dysfunction in myotonic dystrophy type 1.

artículo científico publicado en 2011

Effect of the [CCTG]n repeat expansion on ZNF9 expression in myotonic dystrophy type II (DM2).

artículo científico publicado en 2005

Epileptic activity following 10 minute cerebral ischemia in Mongolian gerbils: an electrophysiological study

artículo científico publicado en 1990

Epileptic activity following cerebral ischemia in Mongolian gerbils is depressed by CPP, a competitive antagonist of the N-methyl-D-aspartate receptor

artículo científico publicado en 1991

Erratum to: Increased risk of tumor in DM1 is not related to exposure to common lifestyle risk factors

artículo científico publicado en 2016

Erratum to: Muscle MRI in neutral lipid storage disease (NLSD).

artículo científico publicado en 2017

Expanded [CCTG]n repetitions are not associated with abnormal methylation at the CNBP locus in myotonic dystrophy type 2 (DM2) patients

artículo científico publicado en 2017

Familial inclusion body myositis among Kurdish-Iranian Jews

artículo científico publicado en 1991

Glucocorticoids and immunosuppressants do not change the prevalence of necrosis and regeneration in mdx skeletal muscles

scientific article published on 01 August 1991

Hashimoto's encephalopathy presenting with musical hallucinosis

scientific article published on 01 May 2003

Hereditary spastic paraplegia: a novel mutation and expansion of the phenotype variability in SPG10.

artículo científico publicado en 2014

Hyper-CK-emia as the sole manifestation of myotonic dystrophy type 2.

artículo científico publicado en 2005

Identification and characterization of 5' CCG interruptions in complex DMPK expanded alleles

artículo científico publicado en 2016

Immunocytochemical localization of vinculin in muscle and nerve

scientific article published on 01 November 1995

Increased risk of tumor in DM1 is not related to exposure to common lifestyle risk factors.

artículo científico publicado en 2016

Intestinal pseudobstruction as presenting event of fatal cerivastatin-induced myopathy

artículo científico publicado en 2003

Intracellular localization and isoform expression of the voltage-dependent anion channel (VDAC) in normal and dystrophic skeletal muscle

artículo científico publicado en 2000

Inverse correlation between VEGF and soluble VEGF receptor 2 in POEMS with AIDP responsive to intravenous immunoglobulin

artículo científico publicado en 2010

Italian validation of INQoL, a quality of life questionnaire for adults with muscle diseases

artículo científico publicado en 2010

LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population.

artículo científico publicado en 2015

Late-Onset Pompe Disease with Nemaline Bodies

artículo científico publicado en 2018

Late-onset MNGIE without peripheral neuropathy due to incomplete loss of thymidine phosphorylase activity

artículo científico publicado en 2009

Long-term outcome of thoracoscopic extended thymectomy for nonthymomatous myasthenia gravis

artículo científico publicado en 2009

Loss and renewal of thick myofilaments in glucocorticoid-treated rat soleus after denervation and reinnervation

artículo científico publicado en 1992

MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients.

artículo científico publicado en 2016

Migraine-like disorder segregating with mtDNA 14484 Leber hereditary optic neuropathy mutation

artículo científico publicado en 2003

Minimalist thoracoscopic resection of thymoma associated with myasthenia gravis.

artículo científico publicado en 2017

Morphological changes in the sciatic nerve of diabetic rats treated with low molecular weight heparin OP 2123/parnaparin.

artículo científico publicado en 2002

Muscle MRI in neutral lipid storage disease (NLSD).

artículo científico publicado en 2017

Myofibrillar disruption in the rabbit soleus muscle after one-week hindlimb suspension

scientific article published on 01 April 1991

Myoimaging in the NGS era: the discovery of a novel mutation in MYH7 in a family with distal myopathy and core-like features--a case report

artículo científico publicado en 2016

NADPH diaphorase activity is inhibited by EDTA in neurons but not in choroid plexus epithelium.

artículo científico publicado en 1993

Neurofibromatous neuropathy: An ultrastructural study.

artículo científico publicado en 2018

Neuromuscular transmission abnormalities in myotonic dystrophy type 1: A neurophysiological study

artículo científico publicado en 2016

Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients

artículo científico publicado en 2017

Neutral lipid-storage disease with myopathy and extended phenotype with novel PNPLA2 mutation

artículo científico publicado en 2015

Nitrergic neurons make synapses on dual-input dendritic spines of neurons in the cerebral cortex and the striatum of the rat: implication for a postsynaptic action of nitric oxide

scientific article published on 01 January 2000

Overexpression of ErbB2 and ErbB3 receptors in Schwann cells of patients with Charcot–Marie–Tooth disease type 1A

artículo científico publicado en 2006

Paucisymptomatic Marchiafava-Bignami disease with relevant diffusion-weighted MRI lesions.

artículo científico publicado en 2013

Periodic acid-Schiff staining on resin muscle sections: improvement in the histological diagnosis of late-onset Pompe disease

artículo científico publicado en 2012

Peripheral nerve extracellular matrix remodeling in Charcot-Marie-Tooth type I disease

artículo científico publicado en 2002

Preferential central nucleation of type 2 myofibers is an invariable feature of myotonic dystrophy type 2

article by Valerio Pisani et al published 24 September 2008 in Muscle and Nerve

Recurrent hyperCKemia with normal muscle biopsy in a pediatric patient with neuromyelitis optica

artículo científico publicado en 2012

Restless legs syndrome and daytime sleepiness are prominent in myotonic dystrophy type 2.

artículo científico publicado en 2014

Risk prediction for clinical phenotype in myotonic dystrophy type 1: data from 2,650 patients

artículo científico publicado en 2007

SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis

artículo científico publicado en 2010

Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion

artículo científico publicado en 2009

Sleep disorders in adult-onset myotonic dystrophy type 1: a controlled polysomnographic study.

artículo científico publicado en 2011

Sleep disorders in myotonic dystrophy type 2: a controlled polysomnographic study and self-reported questionnaires.

artículo científico publicado en 2013

Sleep disorders in spinal and bulbar muscular atrophy (Kennedy's disease): a controlled polysomnographic and self-reported questionnaires study

artículo científico publicado en 2014

Sleep-Wake Cycle and Daytime Sleepiness in the Myotonic Dystrophies

artículo científico publicado en 2013

Spasticity as an ictal pattern due to excitotoxic upper motor neuron damage.

artículo científico publicado en 2012

Subacute demyelinating polyneuropathy in B-cell lymphoma with IgM antibodies against glycolipid GD1b

artículo científico publicado en 2005

Subclinical autonomic dysfunction in spinobulbar muscular atrophy (Kennedy disease).

artículo científico publicado en 2011

Sudomotor skin responses to brain stimulation do not depend on nerve sensory fiber functionality.

artículo científico publicado en 1993

Sural nerve without nerve fibers in leprous neuropathy

artículo científico publicado en 2002

The myotonic dystrophy type 2 (DM2) gene product zinc finger protein 9 (ZNF9) is associated with sarcomeres and normally localized in DM2 patients' muscles.

artículo científico publicado en 2009

Thymomatous myasthenia gravis: novel association with HLA DQB1*05:01 and strengthened evidence of high clinical and serological severity

scientific article published on 11 February 2019

Upper motor neuron involvement in X-linked recessive bulbospinal muscular atrophy.

artículo científico publicado en 2006

Validation of plasma microRNAs as biomarkers for myotonic dystrophy type 1.

scientific article published on December 2016

Vitamin D deficiency in myotonic dystrophy type 1.

artículo científico publicado en 2013

Lista de obras de Roberto Massa

A case of fulminant subacute sclerosing panencephalitis presenting with acute myoclonic-astatic epilepsy

A novel LITAF/SIMPLE mutation within a family with a demyelinating form of Charcot-Marie-Tooth disease

ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.

Aberrant splicing and expression of the non muscle myosin heavy-chain gene MYH14 in DM1 muscle tissues

Active muscle length reduction progressively damages soleus in hindlimb-suspended rabbits.

Adrenomyeloneuropathy partially responsive to steroid pulse therapy

An Age-Standardized Prevalence Estimate and a Sex and Age Distribution of Myotonic Dystrophy Types 1 and 2 in the Rome Province, Italy

Aquaporin 4 expression in human skeletal muscle fiber types.

Association of HLA-DQB1∗05:02 and DRB1∗16 Alleles with Late-Onset, Nonthymomatous, AChR-Ab-Positive Myasthenia Gravis

Brain MR diffusion tensor imaging in Kennedy's disease

Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy

Cutaneous features of myotonic dystrophy types 1 and 2: Implication of premature aging and vitamin D homeostasis.

Delayed focal involvement of upper motor neurons in the Madras pattern of motor neuron disease

Diagnosis, treatment and follow-up of the carpal tunnel syndrome: a review

Differential features of muscle fiber atrophy in osteoporosis and osteoarthritis

Dopamine denervation induces neurotensin immunoreactivity in GABA-parvalbumin striatal neurons.

Dystrophin is not essential for the integrity of the cytoskeleton

Early subclinical cochlear dysfunction in myotonic dystrophy type 1.

Effect of the [CCTG]n repeat expansion on ZNF9 expression in myotonic dystrophy type II (DM2).

Epileptic activity following 10 minute cerebral ischemia in Mongolian gerbils: an electrophysiological study

Epileptic activity following cerebral ischemia in Mongolian gerbils is depressed by CPP, a competitive antagonist of the N-methyl-D-aspartate receptor

Erratum to: Increased risk of tumor in DM1 is not related to exposure to common lifestyle risk factors

Erratum to: Muscle MRI in neutral lipid storage disease (NLSD).

Expanded [CCTG]n repetitions are not associated with abnormal methylation at the CNBP locus in myotonic dystrophy type 2 (DM2) patients

Familial inclusion body myositis among Kurdish-Iranian Jews

Glucocorticoids and immunosuppressants do not change the prevalence of necrosis and regeneration in mdx skeletal muscles

Hashimoto's encephalopathy presenting with musical hallucinosis

Hereditary spastic paraplegia: a novel mutation and expansion of the phenotype variability in SPG10.

Hyper-CK-emia as the sole manifestation of myotonic dystrophy type 2.

Identification and characterization of 5' CCG interruptions in complex DMPK expanded alleles

Immunocytochemical localization of vinculin in muscle and nerve

Increased risk of tumor in DM1 is not related to exposure to common lifestyle risk factors.

Intestinal pseudobstruction as presenting event of fatal cerivastatin-induced myopathy

Intracellular localization and isoform expression of the voltage-dependent anion channel (VDAC) in normal and dystrophic skeletal muscle

Inverse correlation between VEGF and soluble VEGF receptor 2 in POEMS with AIDP responsive to intravenous immunoglobulin

Italian validation of INQoL, a quality of life questionnaire for adults with muscle diseases

LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population.

Late-Onset Pompe Disease with Nemaline Bodies

Late-onset MNGIE without peripheral neuropathy due to incomplete loss of thymidine phosphorylase activity

Long-term outcome of thoracoscopic extended thymectomy for nonthymomatous myasthenia gravis

Loss and renewal of thick myofilaments in glucocorticoid-treated rat soleus after denervation and reinnervation

MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients.

Migraine-like disorder segregating with mtDNA 14484 Leber hereditary optic neuropathy mutation

Minimalist thoracoscopic resection of thymoma associated with myasthenia gravis.

Morphological changes in the sciatic nerve of diabetic rats treated with low molecular weight heparin OP 2123/parnaparin.

Muscle MRI in neutral lipid storage disease (NLSD).

Myofibrillar disruption in the rabbit soleus muscle after one-week hindlimb suspension

Myoimaging in the NGS era: the discovery of a novel mutation in MYH7 in a family with distal myopathy and core-like features--a case report

NADPH diaphorase activity is inhibited by EDTA in neurons but not in choroid plexus epithelium.

Neurofibromatous neuropathy: An ultrastructural study.

Neuromuscular transmission abnormalities in myotonic dystrophy type 1: A neurophysiological study

Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients

Neutral lipid-storage disease with myopathy and extended phenotype with novel PNPLA2 mutation

Nitrergic neurons make synapses on dual-input dendritic spines of neurons in the cerebral cortex and the striatum of the rat: implication for a postsynaptic action of nitric oxide

Overexpression of ErbB2 and ErbB3 receptors in Schwann cells of patients with Charcot–Marie–Tooth disease type 1A

Paucisymptomatic Marchiafava-Bignami disease with relevant diffusion-weighted MRI lesions.

Periodic acid-Schiff staining on resin muscle sections: improvement in the histological diagnosis of late-onset Pompe disease

Peripheral nerve extracellular matrix remodeling in Charcot-Marie-Tooth type I disease

Preferential central nucleation of type 2 myofibers is an invariable feature of myotonic dystrophy type 2

Recurrent hyperCKemia with normal muscle biopsy in a pediatric patient with neuromyelitis optica

Restless legs syndrome and daytime sleepiness are prominent in myotonic dystrophy type 2.

Risk prediction for clinical phenotype in myotonic dystrophy type 1: data from 2,650 patients

SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis

Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion

Sleep disorders in adult-onset myotonic dystrophy type 1: a controlled polysomnographic study.

Sleep disorders in myotonic dystrophy type 2: a controlled polysomnographic study and self-reported questionnaires.

Sleep disorders in spinal and bulbar muscular atrophy (Kennedy's disease): a controlled polysomnographic and self-reported questionnaires study

Sleep-Wake Cycle and Daytime Sleepiness in the Myotonic Dystrophies

Spasticity as an ictal pattern due to excitotoxic upper motor neuron damage.

Subacute demyelinating polyneuropathy in B-cell lymphoma with IgM antibodies against glycolipid GD1b

Subclinical autonomic dysfunction in spinobulbar muscular atrophy (Kennedy disease).

Sudomotor skin responses to brain stimulation do not depend on nerve sensory fiber functionality.

Sural nerve without nerve fibers in leprous neuropathy

The myotonic dystrophy type 2 (DM2) gene product zinc finger protein 9 (ZNF9) is associated with sarcomeres and normally localized in DM2 patients' muscles.

Thymomatous myasthenia gravis: novel association with HLA DQB1*05:01 and strengthened evidence of high clinical and serological severity

Upper motor neuron involvement in X-linked recessive bulbospinal muscular atrophy.

Validation of plasma microRNAs as biomarkers for myotonic dystrophy type 1.

Vitamin D deficiency in myotonic dystrophy type 1.