M. Villanova

发表

Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy

A. D'Amico, M. Pane, E. Mercuri, 2007, Neurology.

Mitochondrial G8363A mutation presenting as cerebellar ataxia and lipomas in an Italian family

A. Federico, F. Santorelli, C. Casali, 1999, Neurology.

Respiratory muscle involvement in HNRNPDL LGMD D3 muscular dystrophy: an extensive clinical description of the first Italian patient

E. Malfatti, M. Villanova, A. Rubegni, 2020, Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology.

A new congenital multicore titinopathy associated with fast myosin heavy chain deficiency

M. Koenig, E. Malfatti, N. Romero, 2020, Annals of clinical and translational neurology.

Mitochondrial myopathy mimicking fibromyalgia syndrome

A. Malandrini, C. Casali, M. Villanova, 1999, Muscle & nerve.

Polymyositis associated with simvastatin

M. Villanova, C. Gennari, E. Battisti, 1997, The Lancet.

CAG Repeat Expansion in an Italian Family with Spinocerebellar Ataxia Type 2 (SCA2): A Clinical and Genetic Study

G. Guazzi, A. Malandrini, M. Villanova, 1998, European Neurology.

Giant axonal neuropathy with subclinical involvement of the central nervous system: Case report

A. Federico, A. Malandrini, M. Dotti, 1998, Journal of the Neurological Sciences.

FINE-MAPPING THE GENE FOR X-LINKED MYOPATHY WITH EXCESSIVE AUTOPHAGY

N. Lévy, M. Villanova, J. Kissel, 2008, Neurology.

Narrowing in on the causative defect of an intriguing X-linked myopathy with excessive autophagy

Raeka S. Aiyar, M. Rafii, B. Banwell, 2002, Neurology.

Electrophysiological findings in X‐linked myopathy with excessive autophagy

B. Falck, S. Jääskeläinen, M. Villanova, 2002, Annals of neurology.

Elevated levels of complement components C5 and C9 and decreased antitrypsin activity in the serum of patients with X‐linked vacuolated myopathy

M. Villanova, M. Fardeau, L. D. De Clerck, 1996, Muscle & nerve.

X‐linked vacuolated myopathy: Membrane attack complex deposition on muscle fiber membranes with calcium accumulation on sarcolemma

M. Villanova, M. Fardeau, J. Louboutin, 1997, Annals of neurology.

FEBS Letters volumes 337–356 master author index

Y. Hinoda, M. Villanova, G. Pavlakis, 2001 .

Type I Sialidosis: A Clinical, Biochemical and Neuroradiological Study

G. Guazzi, A. Malandrini, M. Villanova, 2000, European Neurology.

Expression of CD59, a regulator of the membrane attack complex of complement, on human skeletal muscle fibers

A. Malandrini, M. Villanova, J. Louboutin, 1997, Muscle & nerve.

Spastic paraplegia with thinning of the corpus callosum and white matter abnormalities: Further mutations and relative frequency in ZFYVE26/SPG15 in the Italian population

A. Brice, G. Stevanin, A. Federico, 2009, Journal of the Neurological Sciences.

Charcot-Marie-Tooth disease: an intermediate form

C. Broeckhoven, G. Guazzi, A. Malandrini, 1998, Neuromuscular Disorders.

Hereditary motor and sensory neuropathy Lom type in an Italian Gypsy family

L. Kalaydjieva, A. Malandrini, M. Villanova, 1998, Neuromuscular Disorders.

Homozygosity mapping of families with recessive Charcot-Marie-Tooth neuropathies

V. Timmerman, M. Villanova, E. Nelis, 2001 .

Autosomal recessive paraparesis with amyotrophy of hands and feet and white matter lesions

C. Scarpini, G. Guazzi, A. Malandrini, 1996, Acta neurologica Scandinavica.

Inheritance of a 38‐kb fragment in apparently sporadic facioscapulohumeral muscular dystrophy

F. Vitelli, G. Guazzi, A. Malandrini, 1999, Muscle & nerve.

Apolipoprotein E expression at neuromuscular junctions in mouse, rat and human skeletal muscle

M. Villanova, B. Festoff, D. Hantaı̈, 1994, FEBS letters.

Nerve growth factor expression in human dystrophic muscles

A. Malandrini, M. Villanova, P. Toti, 2003, Muscle & nerve.

Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy.

Robert H. Brown, J. Landers, G. Ravenscroft, 2011, American journal of human genetics.

Duchenne Muscular Dystrophy: Life Prolongation by Noninvasive Ventilatory Support

M. Villanova, A. Mehta, Beatrice Brancalion, 2014, American journal of physical medicine & rehabilitation.

X‐linked vacuolated myopathy: Membrane attack complex deposition on the surface membrane of injured muscle fibers is not accompanied by S‐protein

M. Villanova, M. Fardeau, L. Merlini, 1998, Muscle & nerve.

Asymptomatic cores and paracrystalline mitochondrial inclusions in CADASIL

A. Malandrini, M. Villanova, F. Albani, 2002, Neurology.

Increase of neuronal nitric oxide synthase in rat skeletal muscle during ageing.

C. Caldarera, S. Petrini, M. Villanova, 1998, Biochemical and biophysical research communications.

Detection of Borrelia burgdorferi DNA and complement membrane attack complex deposits in the sural nerve of a patient with chronic polyneuropathy and tertiary lyme disease

S. Bonin, G. Guazzi, A. Malandrini, 1997, Muscle & nerve.

Neurite sprouting and cytoskeletal pathology in Alzheimer's disease: a comparative study with monoclonal antibodies to growth associated protein B-50 and paired helical filaments

M. Vandermeeren, M. Mercken, J. Six, 1992 .

X-Linked Vacuolated Myopathy : TNF-α and IFN-γ Expression in Muscle Fibers with MHC Class I on Sarcolemma

M. Villanova, M. Fardeau, J. Louboutin, 2001 .

Short Communication X-Linked Vacuolated Myopathy TNF- a and IFN- g Expression in Muscle Fibers with MHC Class I on Sarcolemma

M. Villanova, M. Fardeau, J. Louboutin, 2001 .

Nuclear changes in a case of X‐linked Emery‐Dreifuss muscular dystrophy

S. Petrini, M. Villanova, A. Ognibene, 1999, Muscle & nerve.

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

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

Dominant Optic Atrophy (DOA) and Sensorineural Hearing Loss: Clinical, Biochemical, Spectroscopic and Molecular Genetic Study of a Large Italian Pedigree Linked to a New Locus on Chromosome 16

B. Barbiroli, P. Barboni, R. Lodi, 2007 .

Neurological presentation of Ehlers–Danlos syndrome type IV in a family with parental mosaicism

A. Malandrini, M. Villanova, A. Renieri, 2003, Clinical Genetics.

Decreased expression of laminin β1 in chromosome 21-linked Bethlem myopathy

A. Malandrini, M. Villanova, P. Sabatelli, 1999, Neuromuscular Disorders.

Decreased expression of laminin beta 1 in chromosome 21-linked Bethlem myopathy.

A. Malandrini, M. Villanova, P. Sabatelli, 1999, Neuromuscular Disorders.

Eosinophilia myalgia syndrome: absence of immunoglobulin reactivity suggests a cellular rather than humoral mechanism.

J. Martín, P. Cras, G. Guazzi, 1994, Acta neurologica Belgica.

Microtubule-associated protein tau epitopes are present in fiber lesions in diverse muscle disorders.

M. Vandermeeren, J. Six, J. Martín, 1994, The American journal of pathology.

Unusual Laminin α2 Processing in Myoblasts from a Patient with a Novel Variant of Congenital Muscular Dystrophy

F. Muntoni, N. Maraldi, M. Villanova, 2000 .

Congenital muscular dystrophy associated with calf hypertrophy, microcephaly and severe mental retardation in three Italian families: evidence for a novel CMD syndrome

Susan C. Brown, E. Bertini, E. Mercuri, 2000, Neuromuscular Disorders.

Allogeneic mesenchymal stem cell therapy outcomes for three patients with spinal muscular atrophy type 1.

J. Bach, M. Villanova, 2015, American journal of physical medicine & rehabilitation.

Merosin positive congenital muscular dystrophy with severe involvement of the central nervous system

G. Scarano, A. Federico, N. Stefano, 1996, Brain and Development.

Image analysis quantification of substance P immunoreactivity in the trapezius muscle of patients with fibromyalgia and myofascial pain syndrome.

M. Villanova, E. Selvi, R. Marcolongo, 2000, The Journal of rheumatology.

Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophy

E. Bertini, A. Boninsegna, G. Neri, 2004, European Journal of Human Genetics.

Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies.

F. Muntoni, C. Bönnemann, N. Romero, 2002, American journal of human genetics.

FACL4, a new gene encoding long-chain acyl-CoA synthetase 4, is deleted in a family with Alport syndrome, elliptocytosis, and mental retardation.

G. Borsani, A. Ballabio, F. Vitelli, 1998, Genomics.

Focal myositis: a polymerase chain reaction analysis for a viral etiology.

M. Zazzi, M. Villanova, P. Toti, 1997, Human pathology.

Detection of β-A4 amyloid and its precursor protein in the muscle of a patient with juvenile neuronal ceroid lipofuscinosis (Spielmeyer-Vogt-Sjögren)

J. Martín, G. Guazzi, A. Malandrini, 1999, Acta Neuropathologica.

Neuropathological findings associated with retained lead shot pellets in a man surviving two months after a suicide attempt.

M. Di Paolo, A. Malandrini, M. Villanova, 2001, Journal of forensic sciences.

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

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

Acanthocytosis, retinitis pigmentosa, pallidal degeneration. Report of two cases without serum lipid abnormalities

G. Guazzi, A. Malandrini, M. Villanova, 1996, Journal of the Neurological Sciences.

Localization of the gene for the intermediate form of Charcot-Marie-Tooth to chromosome 10q24.1-q25.1.

A. Malandrini, K. Verhoeven, V. Timmerman, 2001, American journal of human genetics.

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

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

Prevalence of congenital muscular dystrophy in Italy

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

Rimmed vacuoles of inclusion body myositis and oculopharyngeal muscular dystrophy contain amyloid precursor protein and lysosomal markers

Shin J. Oh, George Perry, Jan Six, 1993, Brain Research.

Neuronal intranuclear inclusion disease: neuropathologic study of a case

G. Guazzi, A. Malandrini, M. Villanova, 1998, Brain and Development.

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

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

Palatal myoclonus and unusual MRI findings in a patient with membranous lipodystrophy

C. Scarpini, G. Guazzi, A. Malandrini, 1996, Brain and Development.

New Survival Target for Duchenne Muscular Dystrophy.

M. Villanova, Sifa Kazibwe, 2017, American journal of physical medicine & rehabilitation.

Muscular dystrophy, mental retardation and cardiomyopathy not associated with dystrophin deficiency

C. Broeckhoven, J. Six, G. Guazzi, 1996, Neuromuscular Disorders.

Immunofluorescence study of a muscle biopsy from a 1-year-old patient with Walker-Warburg syndrome

S. Petrini, A. Malandrini, N. Maraldi, 1998, Acta Neuropathologica.

Airway clearance techniques in neuromuscular disorders: A state of the art review.

Brigitte Fauroux, David Berlowitz, Michelle Chatwin, 2018, Respiratory medicine.

Expanded access program with Nusinersen in SMA type I in Italy: Strengths and pitfalls of a successful experience

E. Bertini, C. Palermo, M. Pane, 2017, Neuromuscular Disorders.

Duchenne muscular dystrophy and epilepsy

F. Bianco, V. Ricotti, M. Pane, 2013, Neuromuscular Disorders.

Inflammatory Pathogenesis of Cortical Polymicrogyria: An Autopsy Study 1

G. Buonocore, M. Villanova, P. Toti, 1998, Pediatric Research.

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

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

X‐linked vacuolar myopathies: Two separate loci and refined genetic mapping

S. Scherer, F. Muntoni, M. Villanova, 2000, Annals of neurology.

X‐linked vacuolated myopathy: Complement membrane attack complex on surface membrane of injured muscle fibers

M. Villanova, B. Eymard, M. Fardeau, 1995, Annals of neurology.

Neuronal intranuclear inclusion disease: Polymerase chain reaction and ultrastructural study of rectal biopsy specimen in a new case

G. Guazzi, M. Zazzi, A. Malandrini, 2009, Acta Neuropathologica.

Selective bilateral amyotrophy of the anterior tibial muscle: A case report

F. Ginanneschi, J. Six, A. Malandrini, 1997, Muscle & nerve.

228th ENMC International Workshop: Airway clearance techniques in neuromuscular disorders Naarden, The Netherlands, 3–5 March, 2017

M. Villanova, K. Kinnett, D. Berlowitz, 2017, Neuromuscular Disorders.

Localization of laminin α2 chain in normal human central nervous system: an immunofluorescence and ultrastructural study

F. Muntoni, J. Six, L. Palma, 1997, Acta Neuropathologica.

Localization of laminin alpha 2 chain in normal human central nervous system: an immunofluorescence and ultrastructural study.

F. Muntoni, J. Six, G. Guazzi, 1997, Acta neuropathologica.

Localization of merosin in the normal human brain: implications for congenital muscular dystrophy with merosin deficiency.

J. Six, J. Martín, G. Guazzi, 1996, Journal of submicroscopic cytology and pathology.

Localization of the laminin α2 chain in normal human skeletal muscle and peripheral nerve: an ultrastructural immunolabeling study

J. Six, G. Guazzi, A. Malandrini, 1997, Acta Neuropathologica.

Intracellular detection of laminin alpha 2 chain in skin by electron microscopy immunocytochemistry: comparison between normal and laminin alpha 2 chain deficient subjects.

G. Guazzi, A. Malandrini, N. Maraldi, 1997, Neuromuscular Disorders.

Intracellular detection of laminin α 2 chain in skin by electron microscopy immunocytochemistry: Comparison between normal and laminin α 2 chain deficient subjects

G. Guazzi, A. Malandrini, A. Pini, 1997, Neuromuscular Disorders.

Acute inflammatory neuropathy in Charcot-Marie-Tooth disease

A. Federico, A. Malandrini, M. Dotti, 1999, Neurology.

Chronic diarrhea associated with the A3243G mtDNA mutation

G. Grieco, A. Malandrini, F. Santorelli, 2000, Neurology.

Clinicopathological and genetic studies of two further Italian families with cerebral autosomal dominant arteriopathy

M. Zeviani, G. Guazzi, A. Malandrini, 1996, Acta Neuropathologica.

An unusual type of primary cerebral hemihypotrophy with signs of dysfunctional neuronal migration

G. Guazzi, A. Malandrini, M. Villanova, 1996, Acta Neuropathologica.

Unusual clinical features and early brain MRI lesions in a family with cerebral autosomal dominant arteriopathy

G. Guazzi, A. Malandrini, M. Villanova, 1997, Neurology.

Case report Decreased expression of laminin b1 in chromosome 21-linked Bethlem myopathy

A. Malandrini, M. Villanova, P. Sabatelli, 1999 .

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.

Tracheostomy tubes are not needed for Duchenne muscular dystrophy

J. Bach, C. Bianchi, M. Villanova, 2007, European Respiratory Journal.

Autonomic nervous system and smooth muscle cell involvement in systemic sclerosis: ultrastructural study of 3 cases.

G. Guazzi, A. Malandrini, M. Villanova, 2000, The Journal of rheumatology.

Ultrastructural findings in the peripheral nerve in a family with the intermediate form of Charcot-Marie-Tooth disease.

G. Guazzi, A. Malandrini, M. Villanova, 2001, Journal of submicroscopic cytology and pathology.

Localization of laminin chains in the human retina: possible implications for congenital muscular dystrophy associated with α2-chain of laminin deficiency

A. Malandrini, T. Megha, M. Villanova, 1997, Neuromuscular Disorders.

Allogeneic mesenchymal stem cell therapy outcomes for three patients with spinal muscular atrophy type 1.

J. Bach, M. Villanova, M. R, 2015, American journal of physical medicine & rehabilitation.

Ultrastructural study of enteric ganglia in three patients with Rett syndrome

G. Guazzi, A. Malandrini, M. Villanova, 1998, Brain & development (Tokyo. 1979).

Upregulation of SMN2 gene expression by 4-phenylbutyrate: relevance for a therapeutic approach to spinal muscular atrophy.

A. Boninsegna, G. Neri, C. Brahe, 2002 .

Prevalence of congenital muscular dystrophy in Italy

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

Neurological Involvement in Werner’s Syndrome: Clinical and Biopsy Study of a Familial Case

A. Federico, A. Malandrini, M. Dotti, 2000, European Neurology.

Clinical and functional characterization of a long survivor congenital titinopathy patient with a novel metatranscript-only titin variant

E. Malfatti, C. Ottenheijm, N. Romero, 2023, Acta Neuropathologica Communications.

Immunolocalization of several laminin chains in the normal human central and peripheral nervous system.

F. Muntoni, G. Guazzi, A. Malandrini, 1997, Journal of submicroscopic cytology and pathology.