Publications by authors named "Maria Dotti"

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Hippocampal atrophy and white matter lesions characteristics can predict evolution to dementia in patients with vascular mild cognitive impairment.
Carlo Manco, Rosa Cortese, Matteo Leoncini, Domenico Plantone, Giordano Gentile, Maria Teresa Dotti

J Neurol Sci· September 2024

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Using Cluster Analysis to Overcome the Limits of Traditional Phenotype-Genotype Correlations: The Example of -Related Myopathies.
Claudia Dosi, Anna Rubegni, Jacopo Baldacci, Daniele Galatolo, Stefano Doccini, Maria Teresa Dotti

Genes (Basel)· January 2023

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Challenges and resources in adult life with Joubert syndrome: issues from an international classification of functioning (ICF) perspective.
Romina Romaniello, Chiara Gagliardi, Patrizia Desalvo, Livio Provenzi, Roberta Battini, Maria Teresa Dotti

Disabil Rehabil· September 2022

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Anatomical Laser Microdissection of the Ileum Reveals mtDNA Depletion Recovery in A Mitochondrial Neuro-Gastrointestinal Encephalomyopathy (MNGIE) Patient Receiving Liver Transplant.
Elisa Boschetti, Leonardo Caporali, Roberto D'Angelo, Carolina Malagelada, Anna Accarino, Maria Teresa Dotti

Int J Mol Sci· August 2022

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Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4: A Cross-sectional Study by the Italian DAISY Network.
Salvatore Rossi, Anna Rubegni, Vittorio Riso, Melissa Barghigiani, Maria Teresa Bassi, Maria Teresa Dotti

Neurol Genet· April 2022

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Episodic ataxia and severe infantile phenotype in spinocerebellar ataxia type 14: expansion of the phenotype and novel mutations.
Giovanna De Michele, Daniele Galatolo, Serena Galosi, Andrea Mignarri, Gabriella Silvestri, Maria Teresa Dotti

J Neurol· March 2022

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POLR3A variants in hereditary spastic paraparesis and ataxia: clinical, genetic, and neuroradiological findings in a cohort of Italian patients.
Ilaria Di Donato, Antonio Gallo, Ivana Ricca, Nicola Fini, Gabriella Silvestri, Maria Teresa Dotti

Neurol Sci· February 2022

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Expert opinion on diagnosing, treating and managing patients with cerebrotendinous xanthomatosis (CTX): a modified Delphi study.
Bianca M L Stelten, Maria Teresa Dotti, Aad Verrips, Bülent Elibol, Tzipora C Falik-Zaccai

Orphanet J Rare Dis· August 2021

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NGS in Hereditary Ataxia: When Rare Becomes Frequent.
Daniele Galatolo, Giovanna De Michele, Gabriella Silvestri, Vincenzo Leuzzi, Carlo Casali, Maria Teresa Dotti

Int J Mol Sci· August 2021

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Evidence of enteric angiopathy and neuromuscular hypoxia in patients with mitochondrial neurogastrointestinal encephalomyopathy.
Elisa Boschetti, Roberto D'Angelo, Maria Lucia Tardio, Roberta Costa, Carla Giordano, Maria Teresa Dotti

Am J Physiol Gastrointest Liver Physiol· May 2021

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Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position paper on diagnosis, prognosis, and treatment by the MNGIE International Network.
Michio Hirano, Valerio Carelli, Roberto De Giorgio, Loris Pironi, Anna Accarino, Maria Teresa Dotti

J Inherit Metab Dis· March 2021

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Longitudinal changes in MoCA performances in patients with mild cognitive impairment and small vessel disease. Results from the VMCI-Tuscany Study.
Emilia Salvadori, Anna Poggesi, Giovanni Pracucci, Alberto Chiti, Laura Ciolli, Maria Teresa Dotti

Cereb Circ Cogn Behav· March 2021

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Fibroblast growth factor 21 and grow differentiation factor 15 are sensitive biomarkers of mitochondrial diseases due to mitochondrial transfer-RNA mutations and mitochondrial DNA deletions.
Patrizia Formichi, Nastasia Cardone, Ilaria Taglia, Elena Cardaioli, Simona Salvatore, Maria Teresa Dotti

Neurol Sci· December 2020

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Liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical long-term follow-up and pathogenic implications.
Roberto D'Angelo, Elisa Boschetti, Giulia Amore, Roberta Costa, Alessia Pugliese, Maria Teresa Dotti

J Neurol· December 2020

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Neurophthalmologic and Orthoptic Ambulatory Assessments Reveal Ocular and Visual Changes in Patients With Early Alzheimer and Parkinson's Disease.
Alessia Bargagli, Enrica Fontanelli, Dario Zanca, Ilaria Castelli, Francesca Rosini, Maria T Dotti

Front Neurol· November 2020

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HTRA1 expression profile and activity on TGF-β signaling in HTRA1 mutation carriers.
Alessandro Fasano, Patrizia Formichi, Ilaria Taglia, Silvia Bianchi, Ilaria Di Donato, Maria Teresa Dotti

J Cell Physiol· October 2020

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Eye movement changes in autosomal dominant spinocerebellar ataxias.
Francesca Rosini, Elena Pretegiani, Carla Battisti, Maria Teresa Dotti, Antonio Federico

Neurol Sci· July 2020

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Case Report: Early Treatment With Chenodeoxycholic Acid in Cerebrotendinous Xanthomatosis Presenting as Neonatal Cholestasis.
Irene Degrassi, Chiara Amoruso, Giuseppe Giordano, Marina Del Puppo, Andrea Mignarri, Maria Teresa Dotti

Front Pediatr· July 2020

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The safety and effectiveness of chenodeoxycholic acid treatment in patients with cerebrotendinous xanthomatosis: two retrospective cohort studies.
Aad Verrips, Maria Teresa Dotti, Andrea Mignarri, Bianca M L Stelten, Sue Verma

Neurol Sci· April 2020

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Multi-imaging study in a patient with cerebrotendinous xanthomatosis: radiology, clinic and pathology correlation of a rare condition.
Giuseppina Dell'Aversano Orabona, Clemente Dato, Mariano Oliva, Lorenzo Ugga, Maria Teresa Dotti

BJR Case Rep· March 2020

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Relevance of brain lesion location for cognition in vascular mild cognitive impairment.
Antonio Giorgio, Ilaria Di Donato, Alessandro De Leucio, Jian Zhang, Emilia Salvadori, Maria Teresa Dotti

Neuroimage Clin· January 2020

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Primary familial brain calcification caused by MYORG mutations in an Italian family.
Ilaria Taglia, Demy J S Kuipers, Guido J Breedveld, Andrea Mignarri, Maria Teresa Dotti

Parkinsonism Relat Disord· October 2019

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Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy.
Danique Beijer, Tine Deconinck, Jan L De Bleecker, Maria Teresa Dotti, Alessandro Malandrini

Brain· September 2019

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Functional magnetic resonance imaging with encoding task in patients with mild cognitive impairment and different severity of leukoaraiosis.
Alberto Chiti, Paolo Cecchi, Ilaria Pesaresi, Giovanni Orlandi, Nicola Giannini, Maria Teresa Dotti

Psychiatry Res Neuroimaging· December 2018

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Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study.
Angelica D'Amore, Alessandra Tessa, Carlo Casali, Maria Teresa Dotti, Alessandro Filla

Front Neurol· December 2018

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