C. Panicucci

发表

Management and outcome of benign acute childhood myositis in pediatric emergency department

C. Bruno, A. Pistorio, G. Brisca, 2021, Italian Journal of Pediatrics.

Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy

T. Crawford, C. Bruno, E. Zanoteli, 2021, Brain : a journal of neurology.

EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement

P. Striano, F. Zara, F. Santorelli, 2013, Journal of Neurology.

Body mass index in type 2 spinal muscular atrophy: a longitudinal study

M. Pane, E. Mercuri, A. D’Amico, 2022, European Journal of Pediatrics.

Comprehensive Phenotyping of Peripheral Blood T Lymphocytes in Healthy Mice

C. Bruno, Genny Del Zotto, S. Baratto, 2020, Cytometry. Part A : the journal of the International Society for Analytical Cytology.

Novel TRIM32 mutation in sarcotubular myopathy

F. Zara, C. Bruno, C. Gemelli, 2019, Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology.

Nusinersen Induces Disease-Severity-Specific Neurometabolic Effects in Spinal Muscular Atrophy

A. Usiello, T. Mazza, A. D’Amico, 2022, Biomolecules.

P2X7 Receptor Antagonist Reduces Fibrosis and Inflammation in a Mouse Model of Alpha-Sarcoglycan Muscular Dystrophy

C. Bruno, S. Bruzzone, C. Minetti, 2022, Pharmaceuticals.

Genetic modifiers of upper limb function in Duchenne muscular dystrophy

E. Hoffman, M. Pane, E. Mercuri, 2022, Journal of Neurology.

Age, corticosteroid treatment and site of mutations affect motor functional changes in young boys with Duchenne Muscular Dystrophy

S. Patarnello, M. Pane, A. D’Amico, 2022, PloS one.

Zidovudine ameliorates pathology in the mouse model of Duchenne muscular dystrophy via P2RX7 purinoceptor antagonism

J. Ambati, C. Bruno, D. Górecki, 2018, Acta Neuropathologica Communications.

The Role of Muscle Biopsy in Diagnostic Process of Infant Hypotonia: From Clinical Classification to the Genetic Outcome

L. Ramenghi, C. Bruno, S. Savasta, 2021, Frontiers in Neurology.

Enhancement of Muscle T Regulatory Cells and Improvement of Muscular Dystrophic Process in mdx Mice by Blockade of Extracellular ATP/P2X Axis.

C. Bruno, C. Minetti, A. Pistorio, 2015, The American journal of pathology.

Iron Age Italic population genetics: the Piceni from Novilara (8th–7th century BC)

S. De Fanti, S. Sarno, D. Luiselli, 2018, Annals of human biology.

Estimating the impact of COVID-19 pandemic on services provided by Italian Neuromuscular Centers: an Italian Association of Myology survey of the acute phase

N. Bresolin, G. Comi, S. Corti, 2020, Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology.

Emergencies cards for neuromuscular disorders 1st Consensus Meeting from UILDM – Italian Muscular Dystrophy Association Workshop report

E. Mazzone, M. Pane, A. Trabacca, 2022, Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology.

New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy.

G. Comi, B. Koritnik, K. Claeys, 2020, Brain : a journal of neurology.

Aberrant Adenosine Triphosphate Release and Impairment of P2Y2-Mediated Signaling in Sarcoglycanopathies.

K. Mamchaoui, L. Sturla, S. Bruzzone, 2023, Laboratory investigation; a journal of technical methods and pathology.

Mutations in GMPPB Presenting with Pseudometabolic Myopathy.

P. Lanteri, C. Bruno, F. Santorelli, 2018, JIMD reports.

eATP/P2X7R Axis: An Orchestrated Pathway Triggering Inflammasome Activation in Muscle Diseases

C. Bruno, S. Bruzzone, C. Minetti, 2020, International journal of molecular sciences.

The Danger Signal Extracellular ATP Is Involved in the Immunomediated Damage of α-Sarcoglycan-Deficient Muscular Dystrophy.

C. Bruno, S. Bruzzone, C. Minetti, 2019, The American journal of pathology.

Ofatumumab‐associated acute pneumonitis: Not new but still the first case

P. Ravani, G. Ghiggeri, A. Bonanni, 2016, Pharmacology research & perspectives.

Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study

Silvio C. E. Tosatto, E. Bertini, M. Pane, 2022, Acta neuropathologica communications.

Long term follow-up in two siblings with Sengers syndrome: Case report

F. Zara, C. Bruno, F. Santorelli, 2022, Italian Journal of Pediatrics.

Functional characterization of the c.462delA mutation in the NDUFS4 subunit gene of mitochondrial complex I

F. Zara, C. Bruno, R. Biancheri, 2014, Clinical genetics.

The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment

Sita D Gupta, K. Gable, T. Dunn, 2022, Neuropathology and applied neurobiology.

Long-term clinical and MRI follow-up in two POMT2-related limb girdle muscular dystrophy (LGMDR14) patients

F. Zara, G. Tasca, C. Fiorillo, 2023, Brain and Development.

Zidovudine ameliorates pathology in the mouse model of Duchenne muscular dystrophy via P2RX7 purinoceptor antagonism

J. Ambati, C. Bruno, D. Górecki, 2018, Acta neuropathologica communications.

Nusinersen mitigates neuroinflammation in severe spinal muscular atrophy patients

A. Chambery, A. Usiello, A. D’Amico, 2023, Communications Medicine.

Longitudinal Analysis of PUL 2.0 Domains in Ambulant and Non-Ambulant Duchenne Muscular Dystrophy Patients: How do they Change in Relation to Functional Ability?

E. Mazzone, M. Pane, A. D’Amico, 2023, Journal of neuromuscular diseases.

Myopathologic trajectory in Duchenne muscular dystrophy (DMD) reveals lack of regeneration due to senescence in satellite cells

E. Malfatti, F. Relaix, S. Baratto, 2023, Acta Neuropathologica Communications.