Results 101 to 110 of about 600,045 (285)

Cerebral atrophy in mild cognitive impairment and Alzheimer disease: rates and acceleration. [PDF]

, 2013
OBJECTIVE: To quantify the regional and global cerebral atrophy rates and assess acceleration rates in healthy controls, subjects with mild cognitive impairment (MCI), and subjects with mild Alzheimer disease (AD).
Manning, Emily N, Manning, EN, Leung, Kelvin K, Leung, Kelvin K., Bartlett, Jonathan W., Fox, Nick C, Fox, Nick C., Barnes, Josephine, Ourselin, Sebastien, Alzheimer's Disease Neuroimaging Initiative, Bartlett, Jonathan W, Bartlett, JW, Ourselin, S, Fox, NC, Manning, Emily N., Barnes, J, Leung, KK   +16 more
core   +1 more source

Immune Modulatory Therapy for Severe Dengue Hemorrhagic Fever in a Patient With Mitochondrial Complex I Deficiency: A Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Dengue virus (DENV) poses a serious global health challenge, particularly in cases of dengue hemorrhagic fever (DHF). Patients with preexisting mitochondrial disorders may be at increased risk for complications due to the specific impact of DENV on mitochondrial‐dependent cellular processes and immune function.
Audra N. Iness, Ameya S. Walimbe, Emily R. Strouphauer, Michio Hirano, Alejandro D. Iglesias, Valentina Emmanuele, Caitlin C. Griffin, Sheldon L. Kaplan, William A. Gomes, Karen K. Moeller, Stephen F. Kralik, Fernando Scaglia   +11 more
wiley   +1 more source

Cerebellar Structural and N-Acetylaspartate, Choline, and Creatine Metabolic Profiles in Parkinson’s Disease and Essential Tremor

Diagnostics
Background: The role of the cerebellum in Parkinson’s disease (PD), particularly in tremor-dominant subtypes, is increasingly recognized. Magnetic resonance imaging (MRI) and magnetic resonance spectroscopy (MRS) provide anatomical and metabolic insights,
Chien-Tai Hong, Cheng-Chang Yang, David Yen-Ting Chen, Shu-Ping Chao, Lung Chan   +4 more
doaj   +1 more source

Patterns of Cerebellar Gray Matter Atrophy Across Alzheimer’s Disease Progression

Frontiers in Cellular Neuroscience, 2018
The role of the cerebellum in cognitive function has been broadly investigated in the last decades from an anatomical, clinical, and functional point of view and new evidence points toward a significant contribution of the posterior lobes of the ...
S. Toniolo, L. Serra, G. Olivito, C. Marra, M. Bozzali, M. Cercignani   +5 more
semanticscholar   +1 more source

COX14 Variants Are Associated With Mitochondrial Complex IV Deficiency Nuclear Type 10 (MC4DN10)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT COX14 encodes a transmembrane protein essential for cytochrome c oxidase (COX) complex assembly. A homozygous missense variant in COX14 was reported in three siblings from a single consanguineous family with severe, fatal infantile mitochondrial complex IV deficiency nuclear type 10 (MC4DN10; MIM# 619053).
Elias K. Awad, Emily Waskow, Hari Tunuguntla, Joseph Spinner, Hanna J. Tadros, Lisa T. Emrick, Daniel G. Calame, Fernando Scaglia   +7 more
wiley   +1 more source

Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

Nature Genetics, 2015
Pediatric-onset ataxias often present clinically as developmental delay and intellectual disability, with prominent cerebellar atrophy as a key neuroradiographic finding. Here we describe a new clinically distinguishable recessive syndrome in 12 families
Naiara Akizu, Vincent Cantagrel, M. Zaki, L. Al-Gazali, Xin Wang, R. O. Rosti, E. Dikoglu, A. Gelot, Başak Rosti, K. Vaux, Eric M. Scott, J. Silhavy, J. Schroth, Brett R. Copeland, A. Schaffer, P. Gordts, J. Esko, M. Buschman, Seth J. Field, G. Napolitano, G. Abdel-Salam, R. Özgül, M. Sagiroglu, M. Azam, S. Ismail, M. Aglan, L. Selim, I. Mahmoud, Sawsan Abdel-Hadi, A. El Badawy, A. Sadek, F. Mojahedi, H. Kayserili, Amira T. Masri, L. Bastaki, S. Temtamy, Ulrich Müller, I. Desguerre, J. Casanova, A. Dursun, M. Gunel, S. Gabriel, P. de Lonlay, J. Gleeson   +43 more
semanticscholar   +1 more source

L‐Cysteine and N‐Acetylcysteine Supplementation Improves Clinical Outcome in a Patient With COXPD10

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MTO1 is a nuclear gene that encodes a mitochondrial protein essential for modifying mitochondrial transfer RNAs (tRNAs) and stabilizing codon‐anticodon interactions to ensure accurate and efficient mitochondrial protein synthesis and oxidative phosphorylation.
Nishitha R. Pillai, Sara A. Elsbecker, Grace Bronken McCarthy, Kaitlin Weisshappel, Peter Karachunski, Fernando Scaglia   +5 more
wiley   +1 more source

FAS-dependent cell death in α-synuclein transgenic oligodendrocyte models of multiple system atrophy [PDF]

, 2013
Multiple system atrophy is a parkinsonian neurodegenerative disorder. It is cytopathologically characterized by accumulation of the protein p25α in cell bodies of oligodendrocytes followed by accumulation of aggregated α-synuclein in so-called glial ...
Christine L Kragh, Lubetzki Catherine, Kragh, Christine L, Manuela Neumann, Neumann, Manuela, Lubetzki, Catherine, Bernard Zalc, Glenda M Halliday, Jensen, Poul H, Gai, Wei-Ping, Wei-Ping Gai, Kragh, Christine, Zalc Bernard, Jensen, Poul, Christian Haass, Fillon, Gwenaëlle, Gysbers Amanda, Philipp J Kahle, Richter-Landsberg, Christiane, Fillon Gwenaëlle, Halliday, Glenda M., Hansen, Hanne D, Gwenaëlle Fillon, Gai, Wei Ping, Kragh, Christine L., Hansen, Hanne, Amanda Gysbers, Catherine Lubetzki, Smith, Wanli, Christiane Richter-Landsberg, Kahle Philipp J., Zalc, Bernard, Haass Christian, Richter-Landsberg, Christian, Halliday, Glenda,, Kahle, Philipp J., Kahle, Philipp, Gysbers, Amanda, Hansen, Hanne D., Jensen, Poul H., Richter-Landsberg Christiane, Halliday Glenda M., Kahle, Philipp J, Halliday, Glenda M, Kragh Christine L., Jensen Poul H., Neumann Manuela, Hansen Hanne D., Poul H Jensen, Haass, Christian, Hanne D Hansen, Gai Wei-Ping, Halliday, Glenda, M.   +52 more
core   +2 more sources

Patient and Family Reported Clinical Picture of IRF2BPL‐Related Disorders

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT IRF2BPL‐related disorder is a neurodevelopmental disorder caused by heterozygous variants in the IRF2BPL (Interferon Regulatory Factor 2 Binding Protein‐Like) gene. The few reports available in the literature suggest that common symptoms include developmental delay, intellectual disability, and developmental regression.
Zoe Goldstone‐Joubert, Danielle M. Pascual, Laurie Anne Bailey, Loren D. M. Peña, Paul C. Marcogliese   +4 more
wiley   +1 more source

Genetic Variants of Na+,K+‐ATPase Associated With Neurological Disorders: A Systematic Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Neurological disorders encompass a wide range of severe symptoms and manifestations, many of which are associated with genetic variants that affect ionic homeostasis. Na+,K+‐ATPase, a transmembrane enzyme responsible for maintaining electrochemical gradients in cells, plays a crucial role in neuronal excitability and brain function.
Giovana Kummer da Rosa, Leandro Rodrigo Ribeiro, Jéssica Lorena Bariviera, Mauro Schneider Oliveira   +3 more
wiley   +1 more source