Search Results - "Filosto M"

EAN 2024 Guideline on the Diagnostic Approach to Oligo/Asymptomatic HyperCKemia.

Authors: Kyriakides, T. Aleksovska, K. Angelini, C. et al.

Source: European Journal of Neurology. Feb2026, Vol. 33 Issue 2, p1-12. 12p.

Subjects: Creatine kinase, Diagnosis, Diagnostic examinations, Muscle diseases, Genetic testing, Electromyography, Neuromuscular diseases

Mitochondrial diseases: a nosological update.

Authors: Filosto, M. Mancuso, M.

Source: Acta Neurologica Scandinavica. Apr2007, Vol. 115 Issue 4, p211-221. 11p. 1 Chart, 1 Graph.

Subjects: Mitochondrial pathology, Genetic polymorphisms, Genotype-environment interaction, Genetic disorders, Nosology, Genetics

Transcription factors c-Jun/activator protein-1 and nuclear factor-kappa B in oxidative stress response in mitochondrial diseases.

Authors: Filosto, M. Tonin, P. Vattemi, G. et al.

Source: Neuropathology & Applied Neurobiology. Feb2003, Vol. 29 Issue 1, p52-59. 8p.

Cutis verticis gyrata, mental retardation and Lennox-Gastaut syndrome: a case report.

Authors: Filosto, M. Tonin, P. Vattemi, G. et al.

Source: Neurological Sciences. Jun2001, Vol. 22 Issue 3, p253-256. 4p.

Subjects: Lennox-Gastaut syndrome, Intellectual disabilities, Scalp, Scalp abnormalities, Petit mal epilepsy, Electroencephalography, Magnetic resonance imaging

Chronic inflammatory demyelinating polyradiculoneuropathy: can a diagnosis be made in patients not fulfilling electrodiagnostic criteria?

Authors: Liberatore, G. Manganelli, F. Doneddu, P. E. et al.

Source: European Journal of Neurology. Feb2021, Vol. 28 Issue 2, p620-629. 10p.

Subjects: Diagnosis, European integration, Chronic inflammatory demyelinating polyradiculoneuropathy, Neural conduction, Cerebrospinal fluid, Peripheral nervous system

Risk factors for chronic inflammatory demyelinating polyradiculoneuropathy (CIDP): antecedent events, lifestyle and dietary habits. Data from the Italian CIDP Database.

Authors: Doneddu, P. E. Bianchi, E. Cocito, D. et al.

Source: European Journal of Neurology. Jan2020, Vol. 27 Issue 1, p136-143. 8p. 4 Charts.

Subjects: Food habits, Cranial nerves, Oral habits, Databases

X-linked Emery–Dreifuss muscular dystrophy: a multicenter, Italian, cohort study.

Authors: Elkoush, A. Giossi, R. Gadaleta, G. et al.

Source: Journal of Neurology. May2026, Vol. 273 Issue 5, p1-20. 20p.

A non-syndromic hearing loss caused by very low levels of the mtDNA A3243G mutation.

Authors: Mancuso, M. Filosto, M. Forli, F. et al.

Source: Acta Neurologica Scandinavica. Jul2004, Vol. 110 Issue 1, p72-74. 3p.

Subjects: Ear diseases, Hearing disorders, DNA, Genetic mutation, Blood

McArdle disease and sporadic inclusion body myositis.

Authors: Scarpelli, M. Vattemi, G. Filosto, M. et al.

Source: Neuropathology & Applied Neurobiology. Aug2009, Vol. 35 Issue 4, p442-445. 4p. 1 Color Photograph, 1 Graph.

Expression of late myogenic differentiation markers in sarcoplasmic masses of patients with myotonic dystrophy.

Authors: Vattemi, G. Tomelleri, G. Filosto, M. et al.

Source: Neuropathology & Applied Neurobiology. Feb2005, Vol. 31 Issue 1, p45-52. 8p.

Analysis of the Italian cohort of late-onset Pompe disease (LOPD) patients after 10 and 15 years of therapy with alglucosidase alfa.

Authors: Mongini, T. Gadaleta, G. Alonge, P. et al.

Source: Journal of Neurology. Aug2025, Vol. 272 Issue 8, p1-12. 12p.

Chronic ophthalmoparesis in limb girdle muscular dystrophy 1C.

Authors: Filosto, M. Tonin, P. G Vattemi et al.

Source: Journal of Neurology, Neurosurgery & Psychiatry. Apr2009, Vol. 80 Issue 4, p448-449. 2p. 1 Black and White Photograph.

Spinal muscular atrophy and mitochondrial DNA depletion: Response to Berber et al. (2003) Acta Neuropathol 105:245–251.

Authors: Mancuso, M. Filosto, M. Hirano, M. et al.

Source: Acta Neuropathologica. Jun2003, Vol. 105 Issue 6, p621-622. 2p.

M.P.1.13 Novel mitochondrial tRNA LEU(CUN) transition and D4Z4 partial deletion in a patient with a facioscapulohumeral phenotype

Authors: Filosto, M. Tonin, P. Scarpelli, M. et al.

Source: Neuromuscular Disorders. Oct2007, Vol. 17 Issue 9/10, p771-771. 1p.

Effects of short‐to‐long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD).

Authors: Ripolone, M. Violano, R. Ronchi, D. et al.

Source: Neuropathology & Applied Neurobiology. Aug2018, Vol. 44 Issue 5, p449-462. 14p.

Primary mitochondrial myopathy: 12-month follow-up results of an Italian cohort.

Authors: Montano, V. Lopriore, P. Gruosso, F. et al.

Source: Journal of Neurology. Dec2022, Vol. 269 Issue 12, p6555-6565. 11p.

Eyelid ptosis from sympathetic nerve dysfunction mistaken as myopathy: a simple test to identify this condition.

Authors: Tomelleri, G. Vattemi, G. Filosto, M. et al.

Source: Journal of Neurology, Neurosurgery & Psychiatry. Jun2007, Vol. 78 Issue 6, p632-634. 3p. 1 Black and White Photograph.

Human skeletal muscle as a target organ of trichloroethylene toxicity.

Authors: Vattemi G Tonin P Filosto M et al.

Source: JAMA: Journal of the American Medical Association. 8/3/2005, Vol. 294 Issue 5, p554-556. 3p.

URL: 17791574

Adult-onset mitochondrial movement disorders: a national picture from the Italian Network.

Authors: Montano, V. Orsucci, D. Carelli, V. et al.

Source: Journal of Neurology. Mar2022, Vol. 269 Issue 3, p1413-1421. 9p.

575PSingle-center long-term follow-up of 13 adult patients with spinal muscular atrophy (SMA) treated with risdiplam.

Authors: Risi, B. Caria, F. Bertella, E. et al.

Source: Neuromuscular Disorders. 2025 Supplement, Vol. 53, pN.PAG-N.PAG. 1p.