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Academic Journal

Are patients with GBA-Parkinson disease good candidates for deep brain stimulation? A longitudinal multicentric study on a large Italian cohort.

Subjects: Parkinson Disease*/Parkinson Disease*/Parkinson Disease*/genetics ; Parkinson Disease*/Parkinson Disease*/Parkinson Disease*/therapy ; Parkinson Disease*/Parkinson Disease*/Parkinson Disease*/complications

  • Source: Journal of neurology, neurosurgery, and psychiatry [J Neurol Neurosurg Psychiatry] 2024 Mar 13; Vol. 95 (4), pp. 309-315. Date of Electronic Publication: 2024 Mar 13.Publisher: BMJ Publishing Group Country of Publication: England NLM ID: 2985191R Publication Model: Electronic Cited Medium: Internet ISSN:

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Academic Journal

Posterior Cortical Atrophy phenotype in a GBA N370S mutation carrier: a case report.

  • Authors : Picillo M; Center for Neurodegenerative diseases (CEMAND), Department of Medicine, Surgery and Dentistry, Neuroscience section, University of Salerno, Baronissi, Salerno, Italy. .; Scannapieco S

Subjects: Glucosylceramidase/Glucosylceramidase/Glucosylceramidase/*genetics ; Neurodegenerative Diseases/Neurodegenerative Diseases/Neurodegenerative Diseases/*genetics; Adult

  • Source: BMC neurology [BMC Neurol] 2021 Jan 12; Vol. 21 (1), pp. 17. Date of Electronic Publication: 2021 Jan 12.Publisher: BioMed Central Country of Publication: England NLM ID: 100968555 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2377

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Academic Journal

GBA-Related Parkinson's Disease: Dissection of Genotype-Phenotype Correlates in a Large Italian Cohort.

Subjects: Parkinson Disease*/Parkinson Disease*/Parkinson Disease*/epidemiology ; Parkinson Disease*/Parkinson Disease*/Parkinson Disease*/genetics; Dissection

  • Source: Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2020 Nov; Vol. 35 (11), pp. 2106-2111. Date of Electronic Publication: 2020 Jul 13.Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8610688 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Electroretinographic Assessment in Joubert Syndrome: A Suggested Objective Method to Evaluate the Effectiveness of Future Targeted Treatment.

  • Authors : Ruberto G; Department of Surgical and Clinical, Diagnostic and Pediatric Sciences, Section of Ophthalmology, IRCCS Fondazione Policlinico San Matteo, University of Pavia, Pavia, Italy.; Parisi V

Subjects: Abnormalities, Multiple/Abnormalities, Multiple/Abnormalities, Multiple/*diagnosis ; Abnormalities, Multiple/Abnormalities, Multiple/Abnormalities, Multiple/*physiopathology ; Cerebellum/Cerebellum/Cerebellum/*abnormalities Agenesis of Cerebellar Vermis

  • Source: Advances in therapy [Adv Ther] 2020 Sep; Vol. 37 (9), pp. 3827-3838. Date of Electronic Publication: 2020 Jul 15.Publisher: Health Communications Inc Country of Publication: United States NLM ID: 8611864 Publication Model: Print-Electronic Cited Medium: Internet

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Academic Journal

Awareness of rare and genetic neurological diseases among italian neurologist. A national survey.

  • Authors : Mancuso M; Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy. .; Filosto M

Subjects: Attitude of Health Personnel* ; Health Knowledge, Attitudes, Practice* ; Nervous System Diseases*/Nervous System Diseases*/Nervous System Diseases*/diagnosis

  • Source: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2020 Jun; Vol. 41 (6), pp. 1567-1570. Publisher: Springer-Verlag Italia Country of Publication: Italy NLM ID: 100959175 Publication Model: Print-Electronic Cited

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Academic Journal

Age and sex prevalence estimate of Joubert syndrome in Italy.

Subjects: Abnormalities, Multiple/Abnormalities, Multiple/Abnormalities, Multiple/*epidemiology ; Cerebellum/Cerebellum/Cerebellum/*abnormalities ; Eye Abnormalities/Eye Abnormalities/Eye Abnormalities/*epidemiology Agenesis of Cerebellar Vermis

  • Source: Neurology [Neurology] 2020 Feb 25; Vol. 94 (8), pp. e797-e801. Date of Electronic Publication: 2020 Jan 22.Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0401060 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

Protracted late infantile ceroid lipofuscinosis due to TPP1 mutations: Clinical, molecular and biochemical characterization in three sibs.

  • Authors : Di Giacopo R; Center for Neurocognitive Rehabilitation (CERiN), Mind/Brain Sciences (CIMEC), University of Trento, Azienda Provinciale per i Servizi Sanitari (APSS), Trento, Italy; Centro per i Disturbi del Movimento, Università Cattolica del sacro Cuore, Rome, Italy. Electronic address: .

Subjects: Neuronal Ceroid-Lipofuscinoses*/Neuronal Ceroid-Lipofuscinoses*/Neuronal Ceroid-Lipofuscinoses*/genetics ; Neuronal Ceroid-Lipofuscinoses*/Neuronal Ceroid-Lipofuscinoses*/Neuronal Ceroid-Lipofuscinoses*/metabolism ; Neuronal Ceroid-Lipofuscinoses*/Neuronal Ceroid-Lipofuscinoses*/Neuronal Ceroid-Lipofuscinoses*/pathology

  • Source: Journal of the neurological sciences [J Neurol Sci] 2015 Sep 15; Vol. 356 (1-2), pp. 65-71. Date of Electronic Publication: 2015 May 29.Publisher: Elsevier Country of Publication: Netherlands NLM ID: 0375403 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Syndromic parkinsonism and dementia associated with OPA1 missense mutations.

  • Authors : Carelli V; IRCCS Institute of Neurological Sciences of Bologna, Bellaria Hospital, Bologna, Italy.; Unit of Neurology, Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.

Subjects: Mutation, Missense*; Dementia/Dementia/Dementia/*genetics ; GTP Phosphohydrolases/GTP Phosphohydrolases/GTP Phosphohydrolases/*genetics

  • Source: Annals of neurology [Ann Neurol] 2015 Jul; Vol. 78 (1), pp. 21-38. Date of Electronic Publication: 2015 Jun 10.Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Phenotypic variability of PINK1 expression: 12 Years' clinical follow-up of two Italian families.

  • Authors : Ricciardi L; Institute of Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.; Petrucci S

Subjects: Family Leave*; Mutation/Mutation/Mutation/*genetics ; Parkinsonian Disorders/Parkinsonian Disorders/Parkinsonian Disorders/*genetics

  • Source: Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2014 Oct; Vol. 29 (12), pp. 1561-6. Date of Electronic Publication: 2014 Aug 27.Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8610688 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Low-rate repetitive nerve stimulation protocol in an Italian cohort of patients affected by recessive myotonia congenita.

  • Authors : Modoni A; Department of Neuroscience, Catholic University, Rome, Italy.; D'Amico A

Subjects: Electric Stimulation/Electric Stimulation/Electric Stimulation/*methods ; Myotonia Congenita/Myotonia Congenita/Myotonia Congenita/*diagnosis ; Myotonia Congenita/Myotonia Congenita/Myotonia Congenita/*physiopathology

  • Source: Journal of clinical neurophysiology : official publication of the American Electroencephalographic Society [J Clin Neurophysiol] 2011 Feb; Vol. 28 (1), pp. 39-44.Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 8506708 Publication Model: Print Cited Medium: Internet ISSN:

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  • 1-10 of  31 results for ""Valente EM""