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A dysfunctional endolysosomal pathway common to two sub-types of demyelinating Charcot-Marie-Tooth disease.
James R Edgar, Anita K Ho, Matilde Laurá, Rita Horvath, Mary M Reilly, J Paul Luzio, Rhys C Roberts
Sep 28, 2020
Autosomal dominant mutations in LITAF are responsible for the rare demyelinating peripheral neuropathy, Charcot-Marie-Tooth disease type 1C (CMT1C). The LITAF protein is expressed in many human cell types and we have...
Charcot–Marie–Tooth endosome LITAF lysosome Peripheral neuropathy phosphoinositide Adult Charcot-Marie-Tooth disease Endosomes Female FIBROBLASTS Flavoproteins Gene Knockout Techniques Humans Loss of Function Mutation Lysosomes Male Microscopy Confocal Microscopy Electron Middle Aged Nuclear Proteins Phosphoric Monoester Hydrolases Transcription Factors Transient Receptor Potential Channels Vacuoles
A dysfunctional endolysosomal pathway common to two sub-types of demyelinating Charcot–Marie–Tooth disease
James R. Edgar, Anita K. Ho, Matilde Laurá, Rita Horvath, Mary M. Reilly, J. Paul Luzio, Rhys C. Roberts
Oct 18, 2021
Abstract: Autosomal dominant mutations in LITAF are responsible for the rare demyelinating peripheral neuropathy, Charcot–Marie–Tooth disease type 1C (CMT1C). The LITAF protein is expressed in many human cell types and we have...
A dysfunctional endolysosomal pathway common to two sub-types of demyelinating Charcot–Marie–Tooth disease
James R. Edgar, Anita K. Ho, Matilde Laurá, Rita Horvath, Mary M. Reilly, J. Paul Luzio, Rhys C. Roberts
Oct 15, 2020
Abstract: Autosomal dominant mutations in LITAF are responsible for the rare demyelinating peripheral neuropathy, Charcot–Marie–Tooth disease type 1C (CMT1C). The LITAF protein is expressed in many human cell types and we have...
Characterizing palliative care needs in people with or at risk of developing diabetic foot ulcers.
Liliane Mendonça, Bárbara Antunes, Joana Rigor, Daniela Martins-Mendes, Matilde Monteiro-Soares
Dec 22, 2022
AIMS: Diabetic foot ulcers (DFUs) have a significant impact on a patient's quality of life and life expectancy, with mortality rates comparable with malignant diseases. However, there is a lack of data regarding palliative care...
Set-shifting-related basal ganglia deformation as a novel familial marker of obsessive-compulsive disorder.
Masanori Isobe, Matilde Vaghi, Naomi A Fineberg, Annemieke M Apergis-Schoute, Edward T Bullmore, Barbara J Sahakian, Trevor W Robbins, Samuel R Chamberlain
Mar 17, 2021
The symptoms of obsessive-compulsive disorder (OCD) are suggestive of cognitive rigidity, and previous work identified impaired flexible responding on set-shifting tasks in such patients. The basal ganglia are central to habit...
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion.
Andrea Cortese, Stefano Tozza, Wai Yan Yau, Salvatore Rossi, Sarah J Beecroft, Zane Jaunmuktane, Zoe Dyer, Gianina Ravenscroft, Phillipa J Lamont, Stuart Mossman, Andrew Chancellor, Thierry Maisonobe, Yann Pereon, Cecile Cauquil, Silvia Colnaghi, Giulia Mallucci, Riccardo Curro, Pedro J Tomaselli, Gilbert Thomas-Black, Roisin Sullivan, Stephanie Efthymiou, Alexander M Rossor, Matilde Laurá, Menelaos Pipis, Alejandro Horga, James Polke, Diego Kaski, Rita Horvath, Patrick F Chinnery, Wilson Marques, Cristina Tassorelli, Grazia Devigili, Lea Leonardis, Nick W Wood, Adolfo Bronstein, Paola Giunti, Stephan Züchner, Tanya Stojkovic, Nigel Laing, Richard H Roxburgh, Henry Houlden, Mary M Reilly
Mar 12, 2020
Ataxia, causing imbalance, dizziness and falls, is a leading cause of neurological disability. We have recently identified a biallelic intronic AAGGG repeat expansion in replication factor complex subunit 1 (RFC1) as the cause...
Chronic Cough Sensory Neuropathy Rfc1 Repeat Expansion Cerebellar Ataxia neuropathy Vestibular Areflexia Syndrome (Canvas)
Published by: Brain : a journal of neurology
Atypical action updating in a dynamic environment associated with adolescent obsessive-compulsive disorder.
Aleya A Marzuki, Matilde M Vaghi, Anna Conway-Morris, Muzaffer Kaser, Akeem Sule, Annemieke Apergis-Schoute, Barbara J Sahakian, Trevor W Robbins
May 10, 2022
BACKGROUND: Computational research had determined that adults with obsessive-compulsive disorder (OCD) display heightened action updating in response to noise in the environment and neglect metacognitive information (such as...
A phase I/II study of epertinib plus trastuzumab with or without chemotherapy in patients with HER2-positive metastatic breast cancer.
Iain R Macpherson, Pavlina Spiliopoulou, Saeed Rafii, Matilde Saggese, Richard D Baird, Javier Garcia-Corbacho, Antoine Italiano, Jacques Bonneterre, Mario Campone, Nicola Cresti, John Posner, Yousuke Takeda, Akinori Arimura, James Spicer
Jan 20, 2020
BACKGROUND: Epertinib (S-222611) is a potent reversible inhibitor of HER2, EGFR and HER4. This trial evaluated the safety, tolerability, pharmacokinetics and antitumour activity of daily oral epertinib combined with trastuzumab...
EGFR Epertinib HER2 HER2-positive breast cancer Trastuzumab Adult Aged Antineoplastic Combined Chemotherapy Protocols Brain Neoplasms Breast Neoplasms Capecitabine Dose-Response Relationship Drug Drug Administration Schedule Female Humans Male Middle Aged Quinazolines Receptor ErbB-2 Trastuzumab Treatment Outcome Vinorelbine
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion.
Andrea Cortese, Stefano Tozza, Wai Yan Yau, Salvatore Rossi, Sarah J Beecroft, Zane Jaunmuktane, Zoe Dyer, Gianina Ravenscroft, Phillipa J Lamont, Stuart Mossman, Andrew Chancellor, Thierry Maisonobe, Yann Pereon, Cecile Cauquil, Silvia Colnaghi, Giulia Mallucci, Riccardo Curro, Pedro J Tomaselli, Gilbert Thomas-Black, Roisin Sullivan, Stephanie Efthymiou, Alexander M Rossor, Matilde Laurá, Menelaos Pipis, Alejandro Horga, James Polke, Diego Kaski, Rita Horvath, Patrick F Chinnery, Wilson Marques, Cristina Tassorelli, Grazia Devigili, Lea Leonardis, Nick W Wood, Adolfo Bronstein, Paola Giunti, Stephan Züchner, Tanya Stojkovic, Nigel Laing, Richard H Roxburgh, Henry Houlden, Mary M Reilly
Apr 21, 2020
Ataxia, causing imbalance, dizziness and falls, is a leading cause of neurological disability. We have recently identified a biallelic intronic AAGGG repeat expansion in replication factor complex subunit 1 (RFC1) as the cause...
Rfc1 Cerebellar Ataxia neuropathy Vestibular Areflexia Syndrome (Canvas) Chronic Cough Repeat Expansion Sensory Neuropathy Aged Aged 80 and over ataxia Cerebellar Ataxia cerebellum Female Humans Male Middle Aged Neurologic Examination Peripheral Nervous System Diseases Reflex abnormal Sensation Disorders Syndrome Vestibular Neuronitis
Specific Frontostriatal Circuits for Impaired Cognitive Flexibility and Goal-Directed Planning in Obsessive-Compulsive Disorder
Matilde M Vaghi, Petra E Vértes, Manfred G Kitzbichler, Annemieke M Apergis-Schoute, Febe E van der Flier, Naomi A Fineberg, Akeem Sule, Rashid Zaman, Valerie Voon, Prantik Kundu, Edward T Bullmore, Trevor W Robbins
Sep 30, 2016
Cognitive flexibility Frontostriatal circuits functional connectivity Goal-directed planning Obsessive-Compulsive Disorder resting state Adult Attention Brain Mapping Cognition Corpus Striatum Executive Function Female Goals Humans Magnetic Resonance Imaging Male Neural Pathways Obsessive-Compulsive Disorder Prefrontal Cortex Severity of Illness Index
Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1).
Francis B Panosyan, Matilde Laura, Alexander M Rossor, Chiara Pisciotta, Giuseppe Piscosquito, Joshua Burns, Jun Li, Sabrina W Yum, Richard A Lewis, John Day, Rita Horvath, David N Herrmann, Michael E Shy, Davide Pareyson, Mary M Reilly, Steven S Scherer, Inherited Neuropathies Consortium—Rare Diseases Clinical Research Network (INC-RDCRN)
Mar 07, 2019
OBJECTIVE: To extend the phenotypic description of Charcot-Marie-Tooth disease (CMTX1) and to draw new genotype-phenotype relationships. METHODS: Mutations in GJB1 cause the main X-linked form of CMTX (CMTX1). We report...
Conservative and disruptive modes of adolescent change in human brain functional connectivity.
František Váša, Rafael Romero-Garcia, Manfred G Kitzbichler, Jakob Seidlitz, Kirstie J Whitaker, Matilde M Vaghi, Prantik Kundu, Ameera X Patel, Peter Fonagy, Raymond J Dolan, Peter B Jones, Ian M Goodyer, Petra E Vértes, Edward T Bullmore
Feb 29, 2020
Adolescent changes in human brain function are not entirely understood. Here, we used multiecho functional MRI (fMRI) to measure developmental change in functional connectivity (FC) of resting-state oscillations between pairs of...
Compulsivity is linked to reduced adolescent development of goal-directed control and frontostriatal functional connectivity.
Biological markers for anxiety disorders, OCD and PTSD: A consensus statement. Part II
Borwin Bandelow, David Baldwin, Marianna Abelli, Blanca Bolea-Alamanac, Michel Bourin, Samuel R Chamberlain, Eduardo Cinosi, Simon Davies, Katharina Domschke, Naomi Fineberg, Edna Grünblatt, Marek Jarema, Yong-Ku Kim, Eduard Maron, Vasileios Masdrakis, Olya Mikova, David Nutt, Stefano Pallanti, Stefano Pini, Andreas Ströhle, Florence Thibaut, Matilde M Vaghi, Eunsoo Won, Dirk Wedekind, Adam Wichniak, Jade Woolley, Peter Zwanzger, Peter Riederer
Aug 15, 2016
Conservative and disruptive modes of adolescent change in human brain functional connectivity.
Mapping Compulsivity in the DSM-5 Obsessive Compulsive and Related Disorders
Naomi A Fineberg, Annemieke M Apergis-Schoute, Matilde M Vaghi, Paula Banca, Claire M Gillan, Valerie Voon, Samuel R Chamberlain, Eduardo Cinosi, Jemma Reid, Sonia Shahper, Edward T Bullmore, Barbara J Sahakian, Trevor W Robbins
Apr 12, 2018
Compulsions are repetitive, stereotyped thoughts and behaviors designed to reduce harm. Growing evidence suggests that the neurocognitive mechanisms mediating behavioral inhibition (motor inhibition, cognitive inflexibility)...
Brain-behaviour modes of covariation in healthy and clinically depressed young people.
Agoston Mihalik, Fabio S Ferreira, Maria J Rosa, Michael Moutoussis, Gabriel Ziegler, Joao M Monteiro, Liana Portugal, Rick A Adams, Rafael Romero-Garcia, Petra E Vértes, Manfred G Kitzbichler, František Váša, Matilde M Vaghi, Edward T Bullmore, Peter Fonagy, Ian M Goodyer, Peter B Jones, NSPN Consortium, Raymond Dolan, Janaina Mourão-Miranda
Jul 24, 2019
Natural history of Charcot-Marie-Tooth disease type 2A
Menelaos Pipis, Shawna ME Feely, James M Polke, Mariola Skorupinska, Laura Perez, Rosemary R Shy, Matilde Laura, Jasper M Morrow, Isabella Moroni, Chiara Pisciotta, Franco Taroni, Dragan Vujovic, Thomas E Lloyd, Gyula Acsadi, Sabrina W Yum, Richard A Lewis, Richard S Finkel, David N Herrmann, John W Day, Jun Li, Mario Saporta, Reza Sadjadi, David Walk, Joshua Burns, Francesco Muntoni, Sindhu Ramchandren, Rita Horvath, Nicholas E Johnson, Stephan Züchner, Davide Pareyson, Steven S Scherer, Alexander M Rossor, Michael E Shy, Mary M Reilly, Inherited Neuropathies Consortium - Rare Disease Clinical Research Network (INC-RDCRN)
Oct 15, 2020
Mitofusin-2 (MFN2) is one of two ubiquitously expressed homologous proteins in eukaryote cells, playing a critical role in mitochondrial fusion. Mutations in MFN2 (most commonly autosomal dominant) cause Charcot-Marie-Tooth...
Charcot-Marie-Tooth Examination Score v2.0 Charcot-Marie-Tooth disease type 2A genotype-phenotype correlations mitofusin-2 standardized response mean Adolescent Adult Age of Onset Charcot-Marie-Tooth disease Child Child Preschool Cohort Studies Disease Progression Female GTP Phosphohydrolases Genes Dominant Genes Recessive Genetic Association Studies Genetic Markers Humans Infant Longitudinal Studies Male Mitochondrial Proteins Neurologic Examination Orthotic Devices Prognosis Prospective Studies Wheelchairs Young Adult
Preference uncertainty accounts for developmental effects on susceptibility to peer influence in adolescence
Andrea M. F. Reiter, Michael Moutoussis, Lucy Vanes, Rogier Kievit, Edward T. Bullmore, Ian M. Goodyer, Peter Fonagy, Peter B. Jones, Raymond J. Dolan, Edward Bullmore, Raymond Dolan, Ian Goodyer, Peter Jones, Tobias Hauser, Sharon Neufeld, Rafael Romero-Garcia, Michelle St Clair, Petra Vértes, Kirstie Whitaker, Becky Inkster, Gita Prabhu, Cinly Ooi, Umar Toseeb, Barry Widmer, Junaid Bhatti, Laura Villis, Ayesha Alrumaithi, Sarah Birt, Aislinn Bowler, Kalia Cleridou, Hina Dadabhoy, Emma Davies, Ashlyn Firkins, Sian Granville, Elizabeth Harding, Alexandra Hopkins, Daniel Isaacs, Janchai King, Danae Kokorikou, Christina Maurice, Cleo McIntosh, Jessica Memarzia, Harriet Mills, Ciara O’Donnell, Sara Pantaleone, Jenny Scott, Matilde Vaghi, Anne-Laura van Harmelen, Andrea Reiter
Jun 22, 2021
SARS-CoV-2 within-host diversity and transmission.
Katrina A Lythgoe, Matthew Hall, Luca Ferretti, Mariateresa de Cesare, George MacIntyre-Cockett, Amy Trebes, Monique Andersson, Newton Otecko, Emma L Wise, Nathan Moore, Jessica Lynch, Stephen Kidd, Nicholas Cortes, Matilde Mori, Rebecca Williams, Gabrielle Vernet, Anita Justice, Angie Green, Samuel M Nicholls, M Azim Ansari, Lucie Abeler-Dörner, Catrin E Moore, Timothy EA Peto, David W Eyre, Robert Shaw, Peter Simmonds, David Buck, John A Todd, Oxford Virus Sequencing Analysis Group (OVSG), Thomas R Connor, Shirin Ashraf, Ana da Silva Filipe, James Shepherd, Emma C Thomson, COVID-19 Genomics UK (COG-UK) Consortium, David Bonsall, Christophe Fraser, Tanya Golubchik
Mar 10, 2021
A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs).
Davide Pareyson, Tanya Stojkovic, Mary M Reilly, Sarah Leonard-Louis, Matilde Laurà, Julian Blake, Yesim Parman, Esra Battaloglu, Meriem Tazir, Mounia Bellatache, Nathalie Bonello-Palot, Nicolas Lévy, Sabrina Sacconi, Raquel Guimarães-Costa, Sharham Attarian, Philippe Latour, Guilhem Solé, André Megarbane, Rita Horvath, Giulia Ricci, Byung-Ok Choi, Angelo Schenone, Chiara Gemelli, Alessandro Geroldi, Mario Sabatelli, Marco Luigetti, Lucio Santoro, Fiore Manganelli, Aldo Quattrone, Paola Valentino, Tatsufumi Murakami, Steven S Scherer, Lois Dankwa, Michael E Shy, Chelsea J Bacon, David N Herrmann, Alberto Zambon, Irene Tramacere, Chiara Pisciotta, Stefania Magri, Stefano C Previtali, Alessandra Bolino
May 28, 2019
OBJECTIVE: Charcot-Marie-Tooth (CMT) disease 4B1 and 4B2 (CMT4B1/B2) are characterized by recessive inheritance, early onset, severe course, slowed nerve conduction, and myelin outfoldings. CMT4B3 shows a more heterogeneous...
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