E. Bertini

发表

Dolichol-phosphate mannose synthase depletion in zebrafish leads to dystrophic muscle with hypoglycosylated α-dystroglycan.

C. Bruno, F. Santorelli, T. Verri, 2016, Biochemical and biophysical research communications.

Alessandra Solari, Barbara Garavaglia, N. Nardocci, 2011, Movement disorders : official journal of the Movement Disorder Society.

Mitochondrial epilepsy: a cross-sectional nationwide Italian survey

M. Mancuso, C. La Morgia, G. Siciliano, 2020, neurogenetics.

Movement Disorders in Children with a Mitochondrial Disease: A Cross-Sectional Survey from the Nationwide Italian Collaborative Network of Mitochondrial Diseases

M. Mancuso, C. La Morgia, G. Siciliano, 2021, Journal of clinical medicine.

SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness.

Simona Lucioli, Ron A Wevers, Eva Morava, 2007, Brain : a journal of neurology.

Pontocerebellar hypoplasia

F. Zara, A. Tessa, C. Bruno, 2010, Neurology.

Diffusion tensor imaging in SPG11- and SPG4-linked hereditary spastic paraplegia

N. Toschi, S. Lanzafame, F. Garaci, 2014, The International journal of neuroscience.

HyperCKemia as the Only Sign of McArdle's Disease in a Child

S. Dimauro, C. Bruno, F. Santorelli, 2000, Journal of child neurology.

Expanding the clinical spectrum of POMT1 phenotype

M. Pane, E. Mercuri, A. D’Amico, 2006, Neurology.

Congenital muscular dystrophies with defective glycosylation of dystroglycan

G. Comi, G. Vasco, M. Pane, 2009, Neurology.

Respiratory chain defects in hereditary spastic paraplegias

R. Carrozzo, H. Schägger, G. Siciliano, 2001, Neuromuscular Disorders.

Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum

M. Ruberg, A. Durr, N. Elleuch, 2007, Nature Genetics.

Bilateral striatal necrosis, dystonia and optic atrophy in two siblings.

B. Garavaglia, V. Leuzzi, E. Bertini, 1992, Journal of neurology, neurosurgery, and psychiatry.

Myoclonus in mitochondrial disorders

M. Zeviani, M. Mancuso, C. Angelini, 2014, Movement disorders : official journal of the Movement Disorder Society.

Atypical Leigh syndrome associated with the D393N mutation in the mitochondrial ND5 subunit

V. Petruzzella, R. Carrozzo, A. Tessa, 2003, Neurology.

Expanding the histopathological spectrum of CFL2‐related myopathies

A. D’Amico, M. Tartaglia, C. Bruno, 2018, Clinical genetics.

SPG3A: An additional family carrying a new atlastin mutation

A. Tessa, C. Bruno, C. Casali, 2002, Neurology.

Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4

G. Rizzo, C. Cereda, A. Filla, 2022, Neurology: Genetics.

Limb-girdle muscular dystrophy with α-dystroglycan deficiency and mutations in the ISPD gene

C. Bruno, F. Santorelli, E. Ricci, 2013, Neurology.

CONGENITAL MUSCULAR DYSTROPHY WITH DEFECTIVE α-DYSTROGLYCAN, CEREBELLAR HYPOPLASIA, AND EPILEPSY

E. Mercuri, A. D’Amico, C. Bruno, 2009, Neurology.

C19orf12 and FA2H mutations are rare in Italian patients with neurodegeneration with brain iron accumulation.

V. Tiranti, N. Nardocci, L. Chiapparini, 2012, Seminars in pediatric neurology.

Are Rare in Italian Patients With Neurodegeneration With Brain Iron Accumulation

V. Tiranti, N. Nardocci, L. Chiapparini, 2012 .

Infantile Childhood Onset of Spinocerebellar Ataxia Type 2

F. Pierelli, A. Tessa, F. Santorelli, 2011, The Cerebellum.

Seven novel mutations in the ORNT1 gene (SLC25A15) in patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome

S. Salvi, C. Dionisi-Vici, E. Bertini, 2001, Human mutation.

The calcium-independent phospholipase A2 gene, PLA2G6, is mutated in a spectrum of childhood neurodegenerative disorders with high brain iron

Colin A. Johnson, N. Nardocci, R. Trembath, 2006 .

Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations

E. Pegoraro, G. Soraru', A. Torraco, 2016, neurogenetics.

Novel 7-DHCR mutation in a child with Smith-Lemli-Opitz syndrome.

R. Carrozzo, A. Giannotti, A. Tessa, 2000, American journal of medical genetics.

Novel TOP3A Variant Associated With Mitochondrial Disease

R. Carrozzo, A. Sabino, S. Servidei, 2022, Neurology. Genetics.

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

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

Corrigendum: Homozygosity mapping of the gene for Hallervoden-Spatz syndrome to chromosome 20p12.3-p13

T. Taylor, M. Pandolfo, N. Nardocci, 1997, Nature Genetics.

Revisiting mitochondrial ocular myopathies: a study from the Italian Network

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

PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron

Colin A. Johnson, N. Nardocci, R. Trembath, 2006, Nature Genetics.

Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations.

V. Mootha, V. Tiranti, C. Clish, 2012, Molecular genetics and metabolism.

Hypertrophic cardiomyopathy and mtDNA depletion. Successful treatment with heart transplantation

R. Carrozzo, H. Schägger, A. Tessa, 2002, Neuromuscular Disorders.

International Workshop: Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations. 16–18 November 2016, Rome, Italy

M. Zeviani, H. Prokisch, M. Mancuso, 2017, Neuromuscular Disorders.

Motor chip: a comparative genomic hybridization microarray for copy-number mutations in 245 neuromuscular disorders.

F. Santorelli, G. Piluso, T. Giugliano, 2011, Clinical chemistry.

An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region

S. Dimauro, M. Zeviani, C. Gellera, 1989, Nature.

Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: another genetic hit in the Mediterranean

P. Striano, F. Zara, C. Bruno, 2006, Neurogenetics.

A novel insertion mutation (A169i) in the CLN1 gene is associated with infantile neuronal ceroid lipofuscinosis in an Italian patient.

V. Petruzzella, M. Zeviani, P. Gasparini, 1998, Biochemical and biophysical research communications.

Clinical and electrophysiological features of epilepsy in Italian patients with CLN8 mutations

P. Striano, F. Zara, C. Bruno, 2007, Epilepsy & Behavior.

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

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

Corrigendum: PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron

Colin A. Johnson, N. Nardocci, R. Trembath, 2006, Nature Genetics.

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

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

Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum

A. Rossi, G. De Michele, A. Filla, 2004, Neurology.

Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations

E. Pegoraro, G. Soraru', A. Torraco, 2016, neurogenetics.

Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy

G. Comi, E. Bertini, E. Hoffman, 2012, Neurology.

Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency

G. Comi, G. Vasco, F. Bianco, 2012, Neuromuscular Disorders.

Ataxia, Intellectual Disability, and Ocular Apraxia with Cerebellar Cysts: A New Disease?

E. Bertini, T. Huisman, K. Zerres, 2013, The Cerebellum.

G.P.4.06 Daily salbutamol in young patients with SMA type II

M. Pane, E. Mercuri, F. Muntoni, 2008, Neuromuscular Disorders.

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

Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis.

P. Striano, F. Zara, N. Nardocci, 2007, Neuropediatrics.

Redefining phenotypes associated with mitochondrial DNA single deletion

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

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

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

Subcomplexes of human ATP synthase mark mitochondrial biosynthesis disorders

R. Carrozzo, H. Schägger, F. Santorelli, 2006, Annals of neurology.

Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3

E. Bertini, B. Dallapiccola, A. Ferlini, 2013, neurogenetics.

A new locus on 3p23–p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1H

V. Petruzzella, M. Copetti, F. Santorelli, 2010, European Journal of Human Genetics.

Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

R. Boldrini, F. Santorelli, S. Salvi, 2001, 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.

Intrafamilial variability in hereditary spastic paraplegia associated with an SPG4 gene mutation

A. Tessa, C. Casali, G. Comanducci, 2000, Neurology.

Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases

M. Mancuso, E. Lamantea, C. Bruno, 2021, Orphanet Journal of Rare Diseases.

The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome

R. Carrozzo, H. Schägger, A. Federico, 2001, Neurology.

TMEM70: a mutational hot spot in nuclear ATP synthase deficiency with a pivotal role in complex V biogenesis

E. Bertini, R. Carrozzo, F. Santorelli, 2012, neurogenetics.

Cerebellar hypoplasia and brainstem thinning associated with severe white matter and basal ganglia abnormalities in a child with an mtDNA deletion

C. Bruno, F. Santorelli, R. Biancheri, 2011, Journal of Inherited Metabolic Disease.

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.

Clinico‐Genetic, Imaging and Molecular Delineation of COQ8A ‐Ataxia: A Multicenter Study of 59 Patients

B. Bender, G. Vasco, A. Durr, 2020, Annals of neurology.

Clinical and Genetic Aspects of Phelan–McDermid Syndrome: An Interdisciplinary Approach to Management

Piercesare Grimaldi, C. Willoughby, J. Nevado, 2022, Genes.

Myelinated retinal fibers in autosomal recessive spastic ataxia of Charlevoix‐Saguenay

F. Pierelli, A. Filla, A. Tessa, 2011, European journal of neurology.

Homozygosity mapping of Hallervorden–Spatz syndrome to chromosome 20p12.3–p13

T. Taylor, M. Pandolfo, N. Nardocci, 1996, Nature Genetics.

Asymmetrical anterior thigh muscle atrophy as an atypical presentation of RYR1-core myopathy

S. Servidei, E. Bertini, G. Primiano, 2021, Neuromuscular Disorders.

The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias

D. Timmann, R. Schüle, L. Schöls, 2021, Frontiers in Neurology.

Infantile Childhood Onset of Spinocerebellar Ataxia Type 2

F. Pierelli, A. Tessa, F. Santorelli, 2012, The Cerebellum.

Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

S. Klebe, C. Duyckaerts, C. van Broeckhoven, 2020, Genetics in Medicine.

Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

S. Klebe, C. Duyckaerts, C. van Broeckhoven, 2020, Genetics in Medicine.

Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type

F. Pierelli, A. Federico, A. Tessa, 2004, Neurology.

Maternally inherited cardiomyopathy: A new phenotype associated with the A to G at nt.3243 of mitochondrial DNA (MELAS mutation)

E. Ricci, S. Servidei, G. Silvestri, 1997, Muscle & nerve.

A novel SURF1 mutation results in Leigh syndrome with peripheral neuropathy caused by cytochrome c oxidase deficiency

R. Carrozzo, A. Tessa, A. Malandrini, 2000, Neuromuscular Disorders.

Mitochondrial epilepsy: a cross-sectional nationwide Italian survey

M. Mancuso, C. La Morgia, G. Siciliano, 2020, neurogenetics.

A new syndrome with ethylmalonic aciduria and normal fatty acid oxidation in fibroblasts.

E. Bertini, D. Hale, K. Gibson, 1994, The Journal of pediatrics.

Novel SEPSECS Pathogenic Variants FeaturingUnusual Phenotype of Complex Movement Disorder With Thin Corpus Callosum A Case Report

Amico, S. Pro, F. Bombelli, 2022 .

Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency.

E. Bertini, M. Rocchi, T. Meitinger, 1998, American journal of human genetics.

Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion

I. Scheffer, E. Bertini, R. Guerrini, 2009, Neurology.

Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular Center.

E. Bertini, C. Wallgren‐Pettersson, J. Mandel, 1997, Human molecular genetics.

Neurodegeneration associated with genetic defects in phospholipase A2

E. Bertini, P. Hogarth, N. Nardocci, 2008, Neurology.

NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders

E. Bertini, E. Valente, B. Dallapiccola, 2005, Journal of Medical Genetics.

RYR1 mutations are a common cause of congenital myopathies with central nuclei

Straub, F. Muntoni, S. Al-Sarraj, 2010, Annals of neurology.

A gene for familial paroxysmal dyskinesia (FPD1) maps to chromosome 2q.

E. Bertini, S. Servidei, L. Ptáček, 1996, American journal of human genetics.

Fatal infantile liver failure associated with mitochondrial DNA depletion.

E. Bertini, E. Ricci, S. Servidei, 1992, The Journal of pediatrics.

Hypoparathyroidism in mitochondrial trifunctional protein deficiency.

E. Bertini, F. Taroni, B. Garavaglia, 1996, The Journal of pediatrics.

Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA

E. Bertini, M. Zeviani, P. Tonali, 1991, Neurology.

Distal infantile spinal muscular atrophy associated with paralysis of the diaphragm: a variant of infantile spinal muscular atrophy.

E. Ricci, E. Bertini, M. Capua, 1989, American journal of medical genetics.

Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene

E. Bertini, M. Zeviani, S. Seneca, 1998, Journal of Inherited Metabolic Disease.

Diaphragmatic paralysis due to partial diaphragmatic hypoplasia mimicking a localized muscular dystrophy: a case report.

C. Bosman, R. Boldrini, E. Bertini, 1988, Clinical neuropathology.

The inv dup(15) syndrome

A. Battaglia, E. Bertini, G. Neri, 1997, Neurology.

Maternally inherited cardiomyopathy: A new phenotype associated with the A to G at nt.3243 of mitochondrial DNA (MELAS mutation)

P. Tonali, E. Ricci, S. Servidei, 1997, Muscle & nerve.

Golli‐MBP Copy Number Analysis by FISH, QMPSF and MAPH in 195 Patients with Hypomyelinating Leukodystrophies

E. Bertini, R. Schiffmann, T. Frebourg, 2006, Annals of human genetics.

Cystic leukoencephalopathy without megalencephaly

E. Bertini, S. Naidu, D. Rodriguez, 2005, Neurology.

Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy

E. Bertini, L. Vallée, F. Zara, 2003, Neurology.

Genotype–phenotype correlation of paroxysmal nonkinesigenic dyskinesia

M. Hallett, E. Bertini, K. Gwinn‐Hardy, 2007, Neurology.

The natural history of Aicardi–Goutières syndrome: Follow-up of 11 Italian patients

E. Bertini, S. Orcesi, P. Lebon, 2005, Neurology.

SPG3A

A. Tessa, C. Bruno, F. Santorelli, 2002, Neurology.

Interferon-alpha may benefit steroid unresponsive chronic inflammatory demyelinating polyneuropathy.

E. Bertini, V. Di Lazzaro, P. Tonali, 1995, Journal of neurology, neurosurgery, and psychiatry.

A novel CBFA1 mutation (R190W) in an Italian family with cleidocranial dysplasia

A. Giannotti, A. Tessa, F. Santorelli, 2000, Human Mutation.

Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum

Marni J. Falk, Lishuang Shen, B. Harding, 2023, Annals of neurology.

OXPHOS and mtDNA alterations in a family with spastic parparesis

R. Carrozzo, A. Tessa, E. Bertini, 2000 .

Hereditary metabolic cardiomyopathies.

S. Dimauro, E. Bertini, S. Servidei, 1994, Advances in pediatrics.

Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy

E. Bertini, G. Comi, C. Angelini, 2005, Journal of Neurology, Neurosurgery & Psychiatry.

International Workshop: Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations. 16–18 November 2016, Rome, Italy

M. Zeviani, H. Prokisch, M. Mancuso, 2017, Neuromuscular Disorders.

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

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