C. Minetti

P. Striano, F. Zara, C. Minetti, 2017, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

West syndrome associated with 14q12 duplications harboring FOXG1

S. Gimelli, P. Striano, A. Coppola, 2011, Neurology.

Inherited neuromyotonia: A clinical and genetic study of a family

P. Striano, A. Coppola, F. Zara, 2007, Neuromuscular Disorders.

Caveolinopathies: from the biology of caveolin-3 to human diseases

F. Sotgia, M. Lisanti, C. Bruno, 2010, European Journal of Human Genetics.

Caveolin-3 T78M and T78K missense mutations lead to different phenotypes in vivo and in vitro

F. Zara, F. Sotgia, M. Lisanti, 2008, Laboratory Investigation.

Impairment of caveolae formation and T-system disorganization in human muscular dystrophy with caveolin-3 deficiency.

F. Sotgia, M. Lisanti, C. Bruno, 2002, The American journal of pathology.

Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV)

S. Dimauro, F. Zara, F. Mosca, 2004, Neurology.

Caveolin-3 Directly Interacts with the C-terminal Tail of β-Dystroglycan

F. Sotgia, M. Lisanti, M. Sudol, 2000, The Journal of Biological Chemistry.

Sjögren's Syndrome and Other Connective Tissue Disorders [213–222] 213. Sjögren’s Syndrome Activity and Damage Indices Comparison

S. Marie, D. Isenberg, T. Jacques, 2010 .

Middle interhemispheric variant of holoprosencephaly: A very mild clinical case

R. Biancheri, C. Minetti, A. Rossi, 2004, Neurology.

Transgenic overexpression of caveolin-3 in skeletal muscle fibers induces a Duchenne-like muscular dystrophy phenotype.

S. Fine, M. Lisanti, C. Minetti, 2000, Proceedings of the National Academy of Sciences of the United States of America.

Chemokine receptor CCR7 is expressed in muscle fibers in juvenile dermatomyositis.

F. Zara, C. Bruno, C. Minetti, 2005, Biochemical and biophysical research communications.

Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene.

M. Valle, C. Bruno, F. Santorelli, 2013, Biochemical and biophysical research communications.

Novel GABRG2 mutations cause familial febrile seizures

M. Baulac, P. Striano, F. Zara, 2015, Neurology: Genetics.

Therapeutic approaches in the treatment of juvenile dermatomyositis in patients with recent-onset disease and in those experiencing disease flare: an international multicenter PRINTO study.

D. Foell, C. Wouters, C. Minetti, 2011, Arthritis and rheumatism.

Muscle Expression of Type I and Type II Interferons Is Increased in Juvenile Dermatomyositis and Related to Clinical and Histologic Features

C. Minetti, C. Fiorillo, L. Bracci-Laudiero, 2019, Arthritis & rheumatology.

Genotype-phenotype correlations in patients with de novo KCNQ2 pathogenic variants

F. Benfenati, P. Striano, A. Coppola, 2020, Neurology Genetics.

White matter lesions in spastic paraplegia with mutations in SPG5/CYP7B1

A. Tessa, F. Santorelli, R. Biancheri, 2009, Neuromuscular Disorders.

White matter lesions in spastic paraplegia with mutations in SPG 5 / CYP 7 B 1

A. Tessa, F. Santorelli, R. Biancheri, 2009 .

Refractory, life-threatening status epilepticus in a 3-year-old girl

P. Striano, F. Zara, C. Minetti, 2008, The Lancet Neurology.

Linkage Analysis and Disease Models in Benign Familial Infantile Seizures: A Study of 16 Families

P. Striano, J. Prud'homme, F. Zara, 2006, Epilepsia.

Different electroclinical picture of generalized epilepsy in two families with 15q13.3 microdeletion

P. Striano, A. Coppola, F. Zara, 2013, Epilepsia.

Familial benign nonprogressive myoclonic epilepsies

P. Striano, F. Zara, C. Minetti, 2009, Epilepsia.

Cryptic chromosome deletions involving SCN1A in severe myoclonic epilepsy of infancy

P. Striano, F. Zara, R. Biancheri, 2006, Neurology.

GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features

P. Striano, L. Santoro, F. Zara, 2006, Journal of Neurology.

Vaccination recommendations for patients with neuromuscular disease.

G. Siciliano, C. Bruno, P. Tonin, 2014, Vaccine.

Respiratory pattern in a FSHD pediatric population.

C. Bruno, C. Minetti, C. Fiorillo, 2016, Respiratory medicine.

Truncation of Caveolin-3 causes autosomal-recessive Rippling Muscle Disease

F. Zara, F. Sotgia, M. Lisanti, 2007, Journal of Neurology, Neurosurgery, and Psychiatry.

Genetic and Early Clinical Manifestations of Females Heterozygous for Duchenne/Becker Muscular Dystrophy.

F. Zara, C. Bruno, C. Minetti, 2016, Pediatric neurology.

Clinical dissection of early onset absence epilepsy in children and prognostic implications

P. Striano, F. Zara, A. Vignoli, 2013, Epilepsia.

Precision medicine in early-onset epilepsy: the KCNQ2 paradigm

P. Striano, L. Ramenghi, C. Minetti, 2020 .

White matter involvement in a family with a novel PDGFB mutation

P. Striano, F. Zara, R. Biancheri, 2016, Neurology: Genetics.

Two new mutations in the myophosphorylase gene in Italian patients with McArdle's disease

L. Santoro, C. Bruno, C. Minetti, 2002, Neuromuscular Disorders.

Forearm Semi-ischemic Exercise Test in Pediatric Patients

C. Bruno, C. Minetti, G. Cordone, 1998, Journal of child neurology.

Combined defects of muscle phosphofructokinase and AMP deaminase in a child with myoglobinuria

S. Dimauro, C. Bruno, C. Minetti, 1998, Neurology.

Muscular dystrophies: alterations in a limited number of cellular pathways?

C. Minetti, D. Toniolo, Duniela Toniolo, 1999, Current opinion in genetics & development.

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)

S. Dimauro, L. Salberg, R. Lovelace, 1994, Neurology.

Caveolinopathies: translational implications of caveolin-3 in skeletal and cardiac muscle disorders.

C. Minetti, E. Gazzerro, A. Bonetto, 2011, Handbook of clinical neurology.

An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia

F. Zara, R. Iodice, C. Bruno, 2021, Muscle & nerve.

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

E. Bertini, A. D’Amico, C. Bruno, 2016, Neuromuscular Disorders.

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.

Clinical and genetic characterization of Chanarin-Dorfman syndrome.

S. Dimauro, E. Bertini, A. D’Amico, 2008, Biochemical and biophysical research communications.

Phenotypic behavior of caveolin-3 R26Q, a mutant associated with hyperCKemia, distal myopathy, and rippling muscle disease.

S. Woodman, F. Sotgia, M. Lisanti, 2003, American journal of physiology. Cell physiology.

Phenotypic characterization of hypomyelination and congenital cataract

F. Zara, F. Sotgia, M. Lisanti, 2007, Annals of neurology.

Different Molecular Mechanisms Leading to White Matter Hypomyelination in Infantile Onset Lysosomal Disorders

R. Biancheri, M. Filocamo, C. Minetti, 2005, Neuropediatrics.

Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease

G. Comi, C. Angelini, C. Bruno, 2018, Neuromuscular Disorders.

Autosomal recessive epilepsy associated with contactin 2 mutation is different from familial cortical tremor, myoclonus and epilepsy.

P. Striano, F. Zara, C. Minetti, 2013, Brain : a journal of neurology.

Caveolin-1(-/-)- and caveolin-2(-/-)-deficient mice both display numerous skeletal muscle abnormalities, with tubular aggregate formation.

S. Dimauro, F. Sotgia, M. Lisanti, 2007, The American journal of pathology.

Abnormalities in the expression of β‐spectrin in Duchenne muscular dystrophy

C. Minetti, E. Bonilla, G. Morreale, 1994, Neurology.

Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract

F. Zara, F. Sotgia, M. Lisanti, 2006, Nature Genetics.

Genetic testing in benign familial epilepsies of the first year of life: Clinical and diagnostic significance

P. Striano, F. Zara, C. Minetti, 2013, Epilepsia.

The Hammersmith functional score correlates with the SMN2 copy number: A multicentric study

M. Pane, E. Mercuri, A. D’Amico, 2007, Neuromuscular Disorders.

Galloway–Mowat syndrome: An early-onset progressive encephalopathy with intractable epilepsy associated to renal impairment. Two novel cases and review of literature

P. Striano, F. Zara, C. Minetti, 2010, Seizure.

A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy

S. Dimauro, S. Tsujino, C. Bruno, 1999, Neuromuscular Disorders.

An Open Retrospective Study of a Standardized Cannabidiol Based-Oil in Treatment-Resistant Epilepsy

P. Striano, S. Lattanzi, C. Minetti, 2020, Cannabis and cannabinoid research.

Localization of the human caveolin‐3 gene to the D3S18/D3S4163/D3S4539 locus (3p25), in close proximity to the human oxytocin receptor gene

F. Sotgia, M. Lisanti, C. Minetti, 1999, FEBS letters.

Muscle and the Cerebellum

C. Bruno, R. Biancheri, C. Minetti, 2007, The neuroradiology journal.

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

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

One hundred twenty-one dystrophin point mutations detected from stored DNA samples by combinatorial denaturing high-performance liquid chromatography.

G. Piluso, C. Minetti, L. Politano, 2010, The Journal of molecular diagnostics : JMD.

Familial isolated hyperCKaemia associated with a new mutation in the caveolin-3 (CAV-3) gene

F. Sotgia, M. Lisanti, C. Bruno, 2002, Journal of neurology, neurosurgery, and psychiatry.

Antiepileptic Drugs Under Investigation for Treatment of Focal Epilepsy

P. Striano, A. Coppola, C. Minetti, 2016, Clinical neuropharmacology.

Early signs of gait deviation in Duchenne muscular dystrophy.

E. Pavan, C. Frigo, C. Minetti, 2011, European journal of physical and rehabilitation medicine.

The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?

G. Comi, M. Zeviani, M. Mancuso, 2014, Journal of Neurology.

Novel treatment perspectives from advances in understanding of genetic epilepsy syndromes

P. Striano, F. Zara, C. Minetti, 2016 .

Revisiting mitochondrial ocular myopathies: a study from the Italian Network

G. Comi, M. Zeviani, M. Mancuso, 2017, Journal of Neurology.

A Novel SCN2A Mutation in Family with Benign Familial Infantile Seizures

P. Striano, F. Zara, C. Minetti, 2006, Epilepsia.

The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis

N. Bresolin, G. Comi, S. Corti, 2017, Muscle & nerve.

Dystrophinopathy in isolated cases of myopathy in females

E. Hoffman, J. Cook, R. Sakuta, 1992, Neurology.

Congenital myopathies: clinical phenotypes and new diagnostic tools

G. Comi, E. Bertini, M. Pane, 2017, Italian Journal of Pediatrics.

Microbiota-gut brain axis involvement in neuropsychiatric disorders

N. Segata, P. Striano, S. Sisodiya, 2019, Expert review of neurotherapeutics.

Detection of early nocturnal hypoventilation in neuromuscular disorders

C. Bruno, C. Minetti, C. Fiorillo, 2017, The Journal of international medical research.

E. Bertini, E. Mazzone, M. Pane, 2016, Neuromuscular Disorders.

Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations

C. Angelini, E. Ricci, G. Piluso, 2011, European Journal of Human Genetics.

Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy

F. Zara, F. Sotgia, M. Lisanti, 1998, Nature Genetics.

Severe dystrophinopathy in a patient with congenital hypotonia

C. Minetti, M. Pedemonte, G. Morreale, 1996, Child's Nervous System.

Becker muscular dystrophy or spinal muscular atrophy?—Dystrophin studies resolve conflicting results of electromyography and muscle biopsy

R. Lovelace, C. Minetti, A. Hays, 1991, Neuromuscular Disorders.

α-Actin gene mutations and polymorphisms in Italian patients with nemaline myopathy

E. Bertini, B. Porfirio, C. Minetti, 2004 .

A case of congenital neuromuscular disease with uniform type I fibers, abnormal mitochondrial network and jagged Z-line.

S. Barbieri, G. Scarlato, C. Minetti, 1985, Neuropediatrics.

Disruption of muscle basal lamina in congenital muscular dystrophy with merosin deficiency

C. Minetti, G. Morreale, G. Cordone, 1996, Neurology.

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.

JIMD Reports, Volume 37

F. Santorelli, C. Minetti, M. Severino, 2017, JIMD Reports.

Neuromuscular and Neuroendocrinological Features Associated With ZC4H2-Related Arthrogryposis Multiplex Congenita in a Sicilian Family: A Case Report

G. d’Annunzio, P. Striano, M. Maghnie, 2021, Frontiers in Neurology.

The leukodystrophy protein FAM126A/Hyccin regulates PI4P synthesis at the plasma membrane

P. De Camilli, F. Zara, M. Simons, 2015, Nature Cell Biology.

STXBP1 encephalopathy

P. Striano, K. Sleegers, G. Cantalupo, 2016, Neurology.

Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy

P. Striano, P. Bramanti, F. Zara, 2014, Annals of neurology.

TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy.

F. Benfenati, P. Striano, F. Zara, 2010, American journal of human genetics.

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.

Mapping the human genetic architecture of COVID-19

Mattia G. Bergomi, Christopher M. DeBoever, Matthew A. Wiles, 2021, Nature.

Genotype-Phenotype Correlations in Neurofibromatosis Type 1: A Single-Center Cohort Study

P. Striano, F. Zara, V. Capra, 2021, Cancers.

Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: the Italian experience from the ‘beyond epilepsy’ project

P. Striano, A. Orsini, C. Minetti, 2020, Italian Journal of Pediatrics.

Clinical and molecular findings in patients with giant axonal neuropathy (GAN)

A. Federico, C. Bruno, A. Malandrini, 2004, Neurology.

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.

P. Striano, B. Wirth, Q. Waisfisz, 2018, American journal of human genetics.

Clinical and molecular consequences of exon 78 deletion in DMD gene

F. Zara, C. Bruno, C. Minetti, 2018, Journal of Human Genetics.

Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization.

M. Fichera, S. Gimelli, P. Striano, 2012, Archives of neurology.

Giant Axonal Neuropathy

C. Bruno, C. Minetti, 2008 .

Loss of Wwox Perturbs Neuronal Migration and Impairs Early Cortical Development

P. Striano, F. Zara, E. Fulcheri, 2020, Frontiers in Neuroscience.

Multiplex real-time PCR for detection of deletions and duplications in dystrophin gene.

F. Zara, C. Bruno, S. Regis, 2006, Biochemical and biophysical research communications.

Caveolin-1 deficiency (-/-) conveys premalignant alterations in mammary epithelia, with abnormal lumen formation, growth factor independence, and cell invasiveness.

F. Sotgia, M. Lisanti, C. Minetti, 2006, The American journal of pathology.

Caveolin-1-Deficient Mice Have An Increased Mammary Stem Cell Population with Upregulation of Wnt/?-Catenin Signaling

F. Sotgia, M. Lisanti, C. Minetti, 2005, Cell cycle.

Loss of Caveolin-1 Causes the Hyper-Proliferation of Intestinal Crypt Stem Cells, with Increased Sensitivity to Whole Body ?-Radiation

F. Sotgia, M. Lisanti, C. Minetti, 2005, Cell cycle.

No evidence for a BRD2 promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsy

I. Scheffer, P. Striano, A. Becker, 2019, Epilepsia.

Abnormal circadian rhythm in patients with GRIN1-related developmental epileptic encephalopathy.

P. Striano, V. Capra, C. Minetti, 2019, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Null mutations and lethal congenital form of glycogen storage disease type IV.

C. Bruno, L. Diogo, P. Garcia, 2007, Biochemical and biophysical research communications.

Clinical and Translational Implications for the Caveolin Gene Family: Lessons from Mouse Models and Human Genetic Disorders

F. Sotgia, M. Lisanti, C. Minetti, 2009, Laboratory Investigation.

Molecular genetics of the caveolin gene family: implications for human cancers, diabetes, Alzheimer disease, and muscular dystrophy.

J. Engelman, F. Sotgia, M. Lisanti, 1998, American journal of human genetics.

Phenotypic heterogeneity of the 8344A>G mtDNA “MERRF” mutation

G. Comi, M. Zeviani, M. Mancuso, 2013, Neurology.

Inter-society consensus document on treatment and prevention of bronchiolitis in newborns and infants

C. Minetti, P. Biban, E. Baraldi, 2014, Italian Journal of Pediatrics.

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.

Gene expression profiling in the early phases of DMD: a constant molecular signature characterizes DMD muscle from early postnatal life throughout disease progression

Claudio Bruno, Vincenzo Giglio, Enrico Bertini, 2007, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Caveolinopathies: from the biology of caveolin-3 to human diseases

F. Sotgia, M. Lisanti, C. Bruno, 2009, European Journal of Human Genetics.

Caveolin-3 directly interacts with the C-terminal tail of beta -dystroglycan. Identification of a central WW-like domain within caveolin family members.

F. Sotgia, M. Lisanti, M. Sudol, 2000, The Journal of biological chemistry.

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

Miguel A. Soler, Monika J. Madej, Nancy T. Malintan, 2019, Nature Communications.

Anterior chest wall deformities in children with neurofibromatosis type 1

C. Minetti, G. Mattioli, M. Torre, 2020, Acta paediatrica.

A new method for analysis of mitochondrial DNA point mutations and assess levels of heteroplasmy.

R. Carrozzo, F. Zara, A. Tessa, 2006, Biochemical and biophysical research communications.

Inflammatory myopathy in a patient with collagen VI mutations

C. Bruno, C. Minetti, M. Iacomino, 2018, Scandinavian journal of rheumatology.

Novel AMPD2 mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities

P. Striano, F. Zara, V. Capra, 2017, Neurology: Genetics.

The genetic basis of undiagnosed muscular dystrophies and myopathies

G. Comi, E. Bertini, E. Mercuri, 2016, Neurology.

Prevalence of congenital muscular dystrophy in Italy

G. Comi, E. Bertini, F. Bianco, 2015, Neurology.

Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients

G. Comi, E. Bertini, E. Mercuri, 2018, Genes.

S100B protein and near infrared spectroscopy in preterm and term newborns.

C. Minetti, G. Li Volti, R. Abella, 2010, Frontiers in bioscience.

Clinical and molecular consequences of exon 78 deletion in DMD gene

F. Zara, C. Bruno, C. Minetti, 2018, Journal of Human Genetics.

Quality of Life in Duchenne Muscular Dystrophy: The Subjective Impact on Children and Parents

Catherine Klersy, Fulvio Braido, Giorgio Walter Canonica, 2011, Journal of child neurology.

Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease

F. Corsolini, R. Biancheri, M. Filocamo, 2005, Neurogenetics.

Cerebellar white matter involvement in Salla disease

R. Biancheri, C. Minetti, A. Rossi, 2004, Neuroradiology.

Hyperactivation of oxidative mitochondrial metabolism in epithelial cancer cells in situ

A. Tsirigos, F. Sotgia, M. Lisanti, 2011, Cell cycle.

M. Pane, E. Mercuri, L. Santoro, 2016, Orphanet Journal of Rare Diseases.

LESIONAL REFLEX EPILEPSY ASSOCIATED WITH THE THOUGHT OF FOOD

P. Striano, F. Zara, C. Minetti, 2010, Neurology.

Reliability of the Hammersmith functional motor scale for spinal muscular atrophy in a multicentric study

M. Main, M. Pane, E. Mercuri, 2006, Neuromuscular Disorders.

Pharmacological rescue of the dystrophin-glycoprotein complex in Duchenne and Becker skeletal muscle explants by proteasome inhibitor treatment.

F. Zara, F. Sotgia, M. Lisanti, 2006, American journal of physiology. Cell physiology.

A Novel Mutation in the SURF1 Gene in a Child With Leigh Disease, Peripheral Neuropathy, and Cytochrome-c Oxidase Deficiency

M. Zeviani, C. Bruno, R. Biancheri, 2002, Journal of child neurology.

Redefining phenotypes associated with mitochondrial DNA single deletion

G. Comi, M. Zeviani, M. Mancuso, 2015, Journal of Neurology.

Early onset cardiomyopathy associated with the mitochondrial tRNALeu((UUR)) 3271T>C MELAS mutation.

C. Bruno, F. Santorelli, G. Morcaldi, 2015, Biochemical and biophysical research communications.

“Mitochondrial neuropathies”: A survey from the large cohort of the Italian Network

G. Comi, M. Zeviani, M. Mancuso, 2016, Neuromuscular Disorders.

Mutations in GMPPB Presenting with Pseudometabolic Myopathy.

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

Dramatic response to levetiracetam in post-ischaemic Holmes’ tremor

P. Striano, A. Coppola, F. Zara, 2006, Journal of Neurology, Neurosurgery & Psychiatry.

Early‐onset absence epilepsy: SLC2A1 gene analysis and treatment evolution

P. Striano, A. Coppola, F. Zara, 2013, European journal of neurology.

Dystrophin at the plasma membrane of human muscle fibers shows a costameric localization

F. Beltrame, C. Minetti, E. Bonilla, 1992, Neuromuscular Disorders.

Altered aquaporin‐4 expression in human muscular dystrophies: a common feature?

C. Minetti, A. Frigeri, G. P. Nicchia, 2002, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

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.

Dystrophin deficiency in young girls with sporadic myopathy and normal karyotype

C. Minetti, M. Moggio, A. Prelle, 1991, Neurology.

Dystrophinopathy in two young boys with exercise-induced cramps and myoglobinuria

S. Dimauro, C. Minetti, E. Bonilla, 1993, European Journal of Pediatrics.

Progressive depletion of fast alpha‐actinin‐positive muscle fibers in Duchenne muscular dystrophy

E. Ricci, C. Minetti, E. Bonilla, 1991, Neurology.

POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes.

F. Zara, A. Tessa, C. Bruno, 2007, Biochemical and biophysical research communications.

PROTEIN COMPLEXES ’98 Molecular Genetics of the Caveolin Gene Family: Implications for Human Cancers, Diabetes, Alzheimer Disease, and Muscular Dystrophy

J. Engelman, F. Sotgia, M. Lisanti, 1998 .

Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy

A. Chapelle, K. Pelin, F. Muntoni, 1999, Neuromuscular Disorders.

Potential drug targets within bone morphogenetic protein signaling pathways.

C. Minetti, E. Gazzerro, 2007, Current opinion in pharmacology.

Neuromuscular forms of glycogen branching enzyme deficiency.

C. Bruno, C. Minetti, S. Di Mauro, 2007, Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology.

Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination

Nancy T. Malintan, J. Rothman, D. Kullmann, 2019, Brain : a journal of neurology.

Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment

Nancy T. Malintan, J. Rothman, D. Kullmann, 2019, American journal of human genetics.

Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy

F. Benfenati, P. Striano, C. Depienne, 2021, Neurology.

POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum.

M. Manfredi, F. Zara, A. D’Amico, 2006, Archives of neurology.

An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia.

F. Zara, R. Iodice, C. Bruno, 2021, Muscle & nerve.

Interpreting Genetic Variants in Titin in Patients With Muscle Disorders

Marika Pane, Claudio Bruno, Lucio Santoro, 2018, JAMA neurology.

Atypical Presentation of Aromatic L-Amino Acid Decarboxylase Deficiency with Developmental Epileptic Encephalopathy

P. Striano, C. Minetti, M. Iacomino, 2021, Journal of Pediatric Epilepsy.

Epilepsy Course and Developmental Trajectories in STXBP1-DEE

P. Striano, A. Coppola, G. Cantalupo, 2022, Neurology: Genetics.

Progressive exercise intolerance associated with a new muscle‐restricted nonsense mutation (G142X) in the mitochondrial cytochrome b gene

A. Tessa, C. Bruno, F. Santorelli, 2003, Muscle & nerve.

Mitochondrial DNA Deletion in a Child With Mitochondrial Encephalomyopathy, Growth Hormone Deficiency, and Hypoparathyroidism

A. Tessa, C. Bruno, F. Santorelli, 2006, Journal of child neurology.

Tubulopathy, endocrinopathies and encephalomyopathy in a child with a novel large‐scale mitochondrial DNA deletion

C. Bruno, C. Minetti, F. Santorelli, 2002, Clinical genetics.

Mitochondrial Myopathy and Respiratory Failure Associated With a New Mutation in the Mitochondrial Transfer Ribonucleic Acid Glutamic Acid Gene

C. Bruno, F. Santorelli, C. Minetti, 2003, Journal of child neurology.

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.

Novel homozygous TSFM pathogenic variant associated with encephalocardiomyopathy with sensorineural hearing loss and peculiar neuroradiologic findings

C. Bruno, F. Santorelli, C. Minetti, 2019, neurogenetics.

Expanding the Clinical and Magnetic Resonance Spectrum of Leukoencephalopathy with Thalamus and Brainstem Involvement and High Lactate (LTBL) in a Patient Harboring a Novel EARS2 Mutation.

M. Zeviani, E. Lamantea, C. Bruno, 2015, JIMD reports.

Fatigue and exercise intolerance in mitochondrial diseases. Literature revision and experience of the Italian Network of mitochondrial diseases

G. Comi, M. Zeviani, M. Mancuso, 2012, Neuromuscular Disorders.

Tele-monitoring in paediatric and young home-ventilated neuromuscular patients: A multicentre case-control trial

C. Bruno, C. Minetti, A. Pistorio, 2018, Journal of telemedicine and telecare.

A clinical and genetic study of 33 new cases with early-onset absence epilepsy

P. Striano, A. Coppola, F. Zara, 2011, Epilepsy Research.

Cerebellar atrophy without cerebellar cortex hyperintensity in infantile neuroaxonal dystrophy (INAD) due to PLA2G6 mutation.

R. Lorini, R. Biancheri, M. Filocamo, 2007, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT‐II deficiency

A. D’Amico, C. Angelini, G. Siciliano, 2012, Clinical genetics.

International consensus on a proposed score system for muscle biopsy evaluation in patients with juvenile dermatomyositis: a tool for potential use in clinical trials.

S. Marie, B. Harding, B. Banwell, 2007, Arthritis and rheumatism.

Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype–phenotype spectrum and functional impact on GPI‐anchored proteins

P. Striano, M. Larsen, Philippe M. Campeau, 2021, Clinical genetics.

Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder

P. Striano, S. Vernes, F. Zara, 2023, Human Genetics.

Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Development

Undiagnosed Diseases Network, J. Rosenfeld, P. Striano, 2022, The Cerebellum.

RETRACTED: VMA21 Deficiency Causes an Autophagic Myopathy by Compromising V-ATPase Activity and Lysosomal Acidification

J. Rilstone, C. Ackerley, I. Nishino, 2009, Cell.

VMA21 Deficiency Causes an Autophagic Myopathy by Compromising V-ATPase Activity and Lysosomal Acidification (Retracted article. See vol. 142, pg. 984, 2010)

J. Rilstone, C. Ackerley, I. Nishino, 2009 .

Temporal lobe epilepsy and hippocampal malrotation: Is there a causal association?

Andrea Rossi, Pasquale Striano, Giovanni Morana, 2010, Epilepsy & Behavior.

Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion‐body myopathy

F. Zara, P. Tonali, C. Bruno, 2004, Human mutation.

Congenital muscular dystrophies with cognitive impairment

G. Vasco, M. Pane, E. Mercuri, 2010, Neurology.

Carrier detection of Duchenne and Becker muscular dystrophy using muscle dystrophin immunohistochemistry.

C. Minetti, E. Bonilla, A. Gabbai, 1992, Arquivos de neuro-psiquiatria.

Hypomyelination and congenital cataract: broadening the clinical phenotype.

F. Zara, C. Yalçınkaya, E. Sistermans, 2011, Archives of neurology.

Novel FAM126A mutations in hypomyelination and congenital cataract disease.

F. Zara, R. Biancheri, S. Savasta, 2013, Biochemical and Biophysical Research Communications - BBRC.

Hypomyelination and congenital cataract: identification of novel mutations in two unrelated families.

F. Zara, R. Biancheri, C. Minetti, 2013, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Hypomyelination and Congenital Cataract: Neuroimaging Features of a Novel Inherited White Matter Disorder

F. Zara, G. Uziel, C. Bruno, 2008, American Journal of Neuroradiology.

Mitochondrial myopathy in a child with a muscle-restricted mutation in the mitochondrial transfer RNAAsn gene.

C. Bruno, F. Santorelli, C. Minetti, 2011, Biochemical and biophysical research communications.

Hypomyelination and Congenital Cataract

F. Zara, C. Bruno, R. Biancheri, 2015 .

Autoantibodies to glutamic acid decarboxylase (GAD) in focal and generalized epilepsy: A study on 233 patients

P. Striano, F. Zara, C. Minetti, 2009, Journal of Neuroimmunology.

Primary adrenal insufficiency in a child with a mitochondrial DNA deletion

S. Dimauro, P. Magalhães, C. Bruno, 1998, Journal of Inherited Metabolic Disease.

Magnetic Resonance Imaging “Tigroid Pattern” in Alexander Disease

P. Striano, R. Biancheri, C. Minetti, 2012, Neuropediatrics.

Validation of a score tool for measurement of histological severity in juvenile dermatomyositis and association with clinical severity of disease

S. Marie, T. Jacques, B. Banwell, 2013, Annals of the rheumatic diseases.

Primary muscle involvement in a 15‐year‐old girl with the recurrent homozygous c.362dupC variant in FKBP14

Antonio Novelli, Giuseppe Guglielmi, Enrico Bertini, 2019, American journal of medical genetics. Part A.

Very-long-chain acyl-coenzyme A dehydrogenase deficiency in a child with recurrent myoglobinuria

C. Bruno, C. Minetti, F. Taroni, 1998, Neuromuscular Disorders.

Temporal-parietal-occipital epilepsy in GEFS+ associated with SCN1A mutation.

P. Striano, A. Coppola, F. Zara, 2021, Epileptic disorders : international epilepsy journal with videotape.

Psychiatric comorbidities in patients from seven families with autosomal dominant cortical tremor, myoclonus, and epilepsy

P. Striano, A. Coppola, F. Zara, 2016, Epilepsy & Behavior.

‘Autoimmune epilepsy’ or exasperated search for the etiology of seizures of unknown origin?

P. Striano, C. Minetti, 2012, Epilepsy & Behavior.

Cortical tremor: a tantalizing conundrum between cortex and cerebellum.

P. Striano, A. Coppola, R. Dubbioso, 2020, Brain : a journal of neurology.

Italian cohort of Lafora disease: Clinical features, disease evolution, and genotype-phenotype correlations

P. Striano, R. Michelucci, F. Zara, 2021, Journal of the Neurological Sciences.

Ocular phenotype and electroretinogram abnormalities in Lafora disease and correlation with disease stage

P. Striano, R. Michelucci, F. Zara, 2022, Journal of Neurology.

The spectrum of GNE mutations: allelic heterogeneity for a common phenotype

C. Bruno, E. Bellone, A. Schenone, 2010, Neurological Sciences.

Exome sequencing data screening to identify undiagnosed Aromatic l-amino acid decarboxylase deficiency in neurodevelopmental disorders.

P. Striano, F. Zara, C. Minetti, 2023, Biochemical and biophysical research communications.

[Infantile dermatomyositis. Clinical aspects and prospective treatments].

C. Minetti, G. Cordone, A. Buoncompagni, 1991, Minerva Pediatrica.

The Italian LGMD registry : relative frequency , clinical features , and differential diagnosis

Tiziana, N. Bresolin, G. Comi, 2016 .

McArdle disease: the mutation spectrum of PYGM in a large Italian cohort

F. Zara, C. Angelini, C. Bruno, 2006, Human mutation.

TEMPORAL LOBE ABNORMALITIES ON BRAIN MRI IN HEALTHY VOLUNTEERS: A PROSPECTIVE CASE-CONTROL STUDY

Pasquale Striano, Federico Zara, P. Striano, 2010, Neurology.

Limb-girdle Muscular Dystrophy (LGMD-1C) Mutants of Caveolin-3 Undergo Ubiquitination and Proteasomal Degradation TREATMENT WITH PROTEASOMAL INHIBITORS BLOCKS THE DOMINANT NEGATIVE EFFECT OF LGMD-1C MUTANTS AND RESCUES WILD-TYPE CAVEOLIN-3*

M. Lisanti, C. Minetti, D. Bregman, 2000 .

M.P.4.12 Molecular analysis of the ABHD5 gene in Italian patients with multisystem triglyceride storage disease (Chanarin-Dorfman syndrome)

A. D’Amico, C. Bruno, E. Bertini, 2007, Neuromuscular Disorders.

Familial infantile myoclonic epilepsy

F. Benfenati, P. Striano, F. Zara, 2020, Definitions.

Mosaic expression of dystrophin in carriers of Becker's muscular dystrophy and the X-linked syndrome of myalgia and cramps.

C. Minetti, E. Bonilla, 1992, The New England journal of medicine.

Immunologic study of vinculin in Duchenne muscular dystrophy

C. Minetti, E. Bonilla, K. Tanji, 1992, Neurology.

WES in a family trio suggests involvement of TECPR2 in a complex form of progressive motor neuron disease

A. Covone, R. Ravazzolo, C. Minetti, 2016, Clinical genetics.

De novo 12q22.q23.3 duplication associated with temporal lobe epilepsy

P. Striano, F. Zara, C. Minetti, 2017, Seizure.

Mapping the human genetic architecture of COVID-19

Mattia G. Bergomi, Christopher M. DeBoever, Matthew A. Wiles, 2021, Nature.

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

L. Wilkins, G. Comi, E. Bertini, 2016, Neurology.

E. Mazzone, M. Pane, A. D’Amico, 2016, Neuromuscular disorders : NMD.

Novel Mutation in the CPT II Gene in a Child With Periodic Febrile Myalgia and Myoglobinuria

S. Dimauro, C. Bruno, C. Minetti, 2000, Journal of child neurology.

Phenotypic heterogeneity in two unrelated Danon patients associated with the same LAMP-2 gene mutation.

R. Boldrini, E. Bertini, A. D’Amico, 2005, Neuropediatrics.

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.

P. Striano, B. Wirth, Q. Waisfisz, 2021, American journal of human genetics.

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.

P. Striano, B. Wirth, Q. Waisfisz, 2018, American journal of human genetics.

Hyperkinetic stereotyped movements in a boy with biallelic CNTNAP2 variants

P. Striano, S. Vernes, F. Zara, 2021, Italian Journal of Pediatrics.

Familial nonkinesigenic paroxysmal dyskinesia and intracranial calcifications: A new syndrome?

P. Striano, F. Zara, C. Minetti, 2010, Movement disorders : official journal of the Movement Disorder Society.

Prevalence of congenital muscular dystrophy in Italy

G. Comi, E. Bertini, F. Bianco, 2015, Neurology.

Lumping encephalopathies with inflammation-mediated status epilepticus: Is there enough evidence?

P. Striano, C. Minetti, M. Pezzella, 2011, Epilepsy & Behavior.

Retraction Notice to: VMA21 Deficiency Causes an Autophagic Myopathy by Compromising V-ATPase Activity and Lysosomal Acidification

J. Rilstone, C. Ackerley, I. Nishino, 2010, Cell.

Animal Model Phosphofructokinase Muscle-Specific Isoform Requires Caveolin-3 Expression for Plasma Membrane Recruitment and Caveolar Targeting Implications for the Pathogenesis of Caveolin-Related Muscle Diseases

S. Woodman, F. Sotgia, M. Lisanti, 2003 .

Caveolin-1-/- null mammary stromal fibroblasts share characteristics with human breast cancer-associated fibroblasts.

S. Jimenez, B. Aronow, F. Sotgia, 2009, The American journal of pathology.

Widening the Heterogeneity of Leigh Syndrome: Clinical, Biochemical, and Neuroradiologic Features in a Patient Harboring a NDUFA10 Mutation.

F. Santorelli, C. Minetti, M. Severino, 2017, JIMD reports.

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)

L. Salberg, R. Lovelace, H. Mitsumoto, 1994, Neurology.

“Mitochondrial neuropathies”: A survey from the large cohort of the Italian Network

G. Comi, M. Zeviani, M. Mancuso, 2016, Neuromuscular Disorders.