Results 111 to 120 of about 42,839 (296)

Psychiatric Disorders and Apathy in Mixed Movement Disorders Linked to ADCY5 (MxMD‐ADCY5)

Movement Disorders, EarlyView.
Abstract Background Mixed movement disorders linked to ADCY5 (MxMD‐ADCY5) represent a rare hyperkinetic movement disorder resulting from pathogenic variants in ADCY5. Psychiatric symptoms are suspected to be part of the phenotype. Objective The study aim was to assess psychiatric comorbidities in patients with MxMD‐ADCY5.
Aurélie Méneret, Clément Tarrano, Asya Ekmen, Diane Doummar, Victoria Gonzalez, Christine Tranchant, Mathieu Anheim, Philippe Damier, Eoin Mulroy, Kailash P. Bhatia, Laura Cif, Carlo Fusco, Miryam Carecchio, Norbert Brüggemann, Alexander Münchau, Florence Riant, Manon Gomes, Vanessa Brochard, Agathe Roubertie, Oriane Trouillard, Caroline Dubacq, Yulia Worbe, Mohamed Doulazmi, Emmanuel Roze   +23 more
wiley   +1 more source

Huntingtin as an Actin Organizer: Structural and Functional Insights

Cytoskeleton, EarlyView.
M. Capizzi, S. Humbert
wiley   +1 more source

Missense Variants in the A Isoform of FGF13 as a Novel Cause of Paroxysmal Dyskinesia

Movement Disorders, EarlyView.
Abstract Background Pathogenic variants within the unique N‐terminal inactivation particle of FGF13 isoform A (FGF13A) have so far been associated only with an X‐linked dominant epileptic encephalopathy (DEE). Objective The aim was to expand the clinical and molecular spectrum of FGF13A‐related disorder.
Cyril Mignot, Matthildi Athina Papathanasiou Terzi, Claudia Ravelli, Elisabeth Bosch, Xueqin Lin, Adeline Trauffler, Roseline Caumes, Andrew E. Fry, Clementine Fort, Gaelle Gauthe, Regina Trollmann, Thomas Wirth, Mathieu Anheim, Aurélie Méneret, Emmanuel Roze, Jean‐Madeleine de Sainte Agathe, Hailan He, Eleni Panagiotakaki, Gaëtan Lesca, André Reis, Diane Doummar, Thomas Smol, Georgia Vasileiou   +22 more
wiley   +1 more source

Early and Progressive Spinal Cord Atrophy in Spinocerebellar Ataxia Type 1

Movement Disorders, EarlyView.
Abstract Background Spinocerebellar ataxia type 1 (SCA1) is a rare, autosomal dominant neurodegenerative disorder characterized by progressive cerebellar and brainstem degeneration. Previous studies have shown that spinal cord atrophy is also a key aspect of SCA1 neuropathology.
Colette J.M. Reniers, Teije H. van Prooije, Kirsten C.J. Kapteijns, Jack J.A. van Asten, Caterina Mariotti, Lidia Sarro, Anna Nigri, Marina Grisoli, Giulia Coarelli, Alexandra Durr, Tom Scheenen, Bart van de Warrenburg   +11 more
wiley   +1 more source

Fiscal responsibility legislation and fiscal adjustment : the case of Brazilian local governments [PDF]

This paper discusses trends in fiscal adjustment in Brazil since the 1990s, with particular emphasis on the strengthening of institutions for fiscal policymaking, and its effect on local government finances and their ability to invest in infrastructure ...
de Mello, Luiz
core  

Challenges and possible clinical applications of human embryonic stem cell research [PDF]

, 2012
Human embryonic stem cells (hESC) are harvested from the inner cell mass of the pre-implantation embryo and possess several unique characteristics. First, they are self-renewing, meaning they can grow indefinitely in an appropriate culture environment ...
De Sutter, Petra, Heindryckx, Björn, O'Leary, Thomas, Van der Jeught, Margot   +3 more
core   +1 more source

Distinct Brain Drivers and Shared Cerebello–Cortical Input in ADCY5 and SGCE Hyperkinetic Movements

Movement Disorders, EarlyView.
Resting‐state fMRI and effective connectivity revealed distinct cerebellar–basal ganglia–cortical interactions in ADCY5 (MxMD‐ADCY5) and SGCE (MYC/DYT‐SGCE) related movement disorders. The cerebellum modulated cortex directly in MYC/DYT‐SGCE, but indirectly via basal ganglia‐cerebellar projections in MxMD‐ADCY5, which also showed reduced subthalamic ...
Clément Tarrano, Cécile Galléa, Asya Ekmen, Cécile Delorme, Eavan M. McGovern, Quentin Salardaine, Lina Daghsen, Manon Gomes, Vanessa Brochard, Eoin Mulroy, Kailash P. Bhatia, Carlo Fusco, Miryam Carecchio, Norbert Brüggemann, Alexander Münchau, Victoria Gonzalez, Diane Doummar, Christine Tranchant, Mathieu Anheim, Philippe Damier, Florence Riant, Mohamed Doulazmi, Agathe Roubertie, Caroline Dubacq, Oriane Trouillard, Romain Valabregue, Mélanie Didier, Benoit Beranger, Pierre Pouget, Marie Vidailhet, Sabine Meunier, Aurélie Méneret, Yulia Worbe, Emmanuel Roze   +33 more
wiley   +1 more source

A Severity‐Agnostic Atrophy Pattern in Spinocerebellar Ataxia Type 3: Volumetrics from ENIGMA‐Ataxia

Movement Disorders, EarlyView.
Background Spinocerebellar ataxia type 3 (SCA3) is a rare, inherited neurodegenerative disease characterized by progressive loss of motor coordination. Objectives We undertook a multisite magnetic resonance imaging study to profile the spatial spread of atrophy across the brain, determine whether atrophy preferentially maps onto specific functional ...
Jason W. Robertson, Isaac Adanyeguh, David J. Arpin, Tetsuo Ashizawa, Benjamin Bender, Fernando Cendes, Xi Chen, Giulia Coarelli, Léo Coutinho, Andreas Deistung, Imis Dogan, Alexandra Durr, Jennifer Faber, for the ESMI MR Study Group, Juan Fernandez‐Ruiz, Mónica Ferreira, Marcondes C. França, Sophia L. Göricke, Shuo Han, Thomas Klockgether, Chen Liu, Jun Luo, Alberto R.M. Martinez, Sergio E. Ono, Chiadi U. Onyike, Gülin Öz, for the EUROSCA MR Study Group, Henry Paulson, Jerry L. Prince, Kathrin Reetz, Thiago J.R. Rezende, Matthis Synofzik, Hélio A. Ghizoni Teive, Sophia I. Thomopoulos, Paul M. Thompson, Dagmar Timmann, David Vaillancourt, Bart van de Warrenburg, Judith van Gaalen, Xingang Wang, Philipp Wegner, Sarah H. Ying, Ian H. Harding, Carlos R. Hernandez‐Castillo   +43 more
wiley   +1 more source

Preservation of Complex Multiphase Architectures in Polymer‐Based Artificial Cells by Photo‐Crosslinking

Advanced Science
Nature utilizes phase separation to create biomolecular condensates which spatially organize cellular components. In artificial cells, however, mimicking the structure of cellular multiphase systems is challenging.
Madelief A. M. Verwiel, Alexander B. Cook, Yiǧitcan Sümbelli, Nadia A. Erkamp, Jan C. M. van Hest   +4 more
doaj   +1 more source

Unlocking the potential of stimuli‐responsive liquid crystal polymer bio‐interfaces for adaptive cell modulation

Responsive Materials, EarlyView.
This Perspective discusses the potential of stimuli‐responsive liquid crystal polymer bio‐interfaces in modulating cell behavior as next generation dynamic artificial scaffolds. Unlike current artificial biomaterials that have static properties, LCPs offer fast, reversible, and spatially programmable deformation that reflects the dynamic properties of ...
Ruth M. C. Verbroekken, Burcu Gumuscu, Albert P. H. J. Schenning   +2 more
wiley   +1 more source