Results 51 to 60 of about 7,564,623 (164)

THE GENETIC BASIS OF PRIMARY ADULT-ONSET DYSTONIA [PDF]

, 2011
Objectives. To identify novel genetic loci associated with primary adult-onset dystonia (AOD) and assess candidate genes from the literature. Secondary aimes.
Esposito, Marcello
core   +1 more source

Postnatal Conditional Deletion of Bcl11b in Striatal Projection Neurons Mimics the Transcriptional Signature of Huntington’s Disease

Biomedicines, 2022
The dysregulation of striatal gene expression and function is linked to multiple diseases, including Huntington’s disease (HD), Parkinson’s disease, X-linked dystonia-parkinsonism (XDP), addiction, autism, and schizophrenia. Striatal medium spiny neurons
Sicheng Song, Jordi Creus Muncunill, Carlos Galicia Aguirre, Kizito-Tshitoko Tshilenge, B. Wade Hamilton, Akos A. Gerencser, Houda Benlhabib, Maria-Daniela Cirnaru, Mark Leid, Sean D. Mooney, Lisa M. Ellerby, Michelle E. Ehrlich   +11 more
doaj   +1 more source

Remote Magnetomechanical Neuromodulation Uncovers Therapeutic Mechanisms for Alleviating Parkinsonian Symptoms in Freely Moving Mice

Advanced Science, EarlyView.
Magnetomechanical neuromodulation using magnetic nanodiscs enables remote activation of neurons. In a hemiparkinsonian mouse model, alternating magnetic fields actuate the nanodiscs to generate torque that opens mechanosensitive ion channels within the subthalamic nucleus, thereby modulating basal ganglia motor circuitry.
Anouk Wolters, Lorenzo Signorelli, Christian Herff, Sophia Gimple, Renzo Riemens, Gunter Kenis, Kim Rijkers, Hamed Shabani, Jyh‐Jang Sun, Yasin Temel, Hans Clusmann, Danijela Gregurec, Sarah‐Anna Hescham   +12 more
wiley   +1 more source

Patient‐Mounted Neuro Optical Coherence Tomography for Targeted Minimally Invasive Micro‐Resolution Volumetric Imaging in Brain In Vivo

Advanced Intelligent Systems, Volume 7, Issue 3, March 2025.
Herein, a patient‐mounted neuro optical coherence tomography system that integrates a 5 degrees‐of‐freedom skull‐mounted robot (Skullbot) with a 0.6 mm neuroendoscope for targeted, minimally invasive deep brain imaging, is developed. The system offers high‐resolution imaging with precise deployment, demonstrated through successful tumor imaging in a ...
Chao Xu, Zhiwei Fang, Huxin Gao, Tinghua Zhang, Tao Zhang, Peng Liu, Hongliang Ren, Wu Yuan   +7 more
wiley   +1 more source

Translation, Cultural Adaptation, and Validation of the Hiligaynon Montreal Cognitive Assessment Tool (MoCA-Hil) Among Patients With X-Linked Dystonia Parkinsonism (XDP)

Frontiers in Neurology, 2019
Background: X-linked dystonia parkinsonism (XDP) is a neurodegenerative disease endemic to Filipinos with maternal lineage from Panay Island, Philippines. Patients present with dystonia concurrent with or followed by parkinsonism. Non-motor symptoms also
Nicole B. Aliling, Adovich S. Rivera, Roland Dominic G. Jamora, Roland Dominic G. Jamora   +3 more
doaj   +1 more source

AI‐Based Mitochondrial Network Characterization as a Biomarker for DNM1L‐Related Disease Diagnosis

Advanced Intelligent Systems, EarlyView.
This work provides proof‐of‐concept that AI‐based analysis of mitochondrial network morphology in patient‐derived fibroblasts can identify a phenotypic signature associated with DNM1L deficiency. This automated approach may ultimately provide a complementary functional readout for the interpretation of novel DNM1L variants following genetic testing ...
Uliana Musokhranova, Ioannis Georvasilis, Sofía Illescas, Matina Saritzoglou, Marcos Frías, Mònica Roldán, Anna Ardissone, Isabella Moroni, Àngels García‐Cazorla, Alfonso Oyarzábal   +9 more
wiley   +1 more source

A novel family with an unusual early-onset generalized dystonia.

, 2005
We report on an Italian family in which three brothers and their maternal grandfather had a generalized early-onset dystonia with mild parkinsonian signs.
Giovanni Fabbrini, Laura Vacca, VALENTE, ENZA MARIA, Angela Meesaq, Sykes, N, Nemeth, A, Francesco Brancati, Bruno Dallapiccola, Dallapiccola, B, Nuala Sykes, Alfredo Berardelli, Fabbrini, G, Vacca, L, Enza Maria Valente, Nemeth, Andrea, Andrea Nemeth, Valente, EM, Berardelli, A., Brancati, F, Meesaq, A, Berardelli, A   +20 more
core   +3 more sources

Molecular and Clinical Repercussions of GABA Transporter 1 Variants Gone Amiss: Links to Epilepsy and Developmental Spectrum Disorders

Frontiers in Molecular Biosciences, 2022
The human γ-aminobutyric acid (GABA) transporter 1 (hGAT-1) is the first member of the solute carrier 6 (SLC6) protein superfamily. GAT-1 (SLC6A1) is one of the main GABA transporters in the central nervous system.
Florian P. Fischer, Florian P. Fischer, Ameya S. Kasture, Thomas Hummel, Sonja Sucic   +4 more
doaj   +1 more source

Data‐Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño, Shekeeb S. Mohammad, Rajeshwar Reddy Angiti, Velda Han, Michel Tchan, Russell C. Dale, Victor S.C. Fung   +6 more
wiley   +1 more source

iPSC motor neurons, but not other derived cell types, capture gene expression changes in postmortem sporadic ALS motor neurons

Cell Reports, 2023
Summary: Motor neuron degeneration, the defining feature of amyotrophic lateral sclerosis (ALS), is a primary example of cell-type specificity in neurodegenerative diseases.
Aaron Held, Michelle Adler, Christine Marques, Charles Jourdan Reyes, Amey S. Kavuturu, Ana R.A.A. Quadros, I. Sandra Ndayambaje, Erika Lara, Michael Ward, Clotilde Lagier-Tourenne, Brian J. Wainger   +10 more
doaj   +1 more source