Results 231 to 240 of about 600,045 (285)

Differential Diagnosis of Cerebellar Atrophy in Childhood: An Update

Neuropediatrics, 2015
A. Poretti, N. Wolf, E. Boltshauser
semanticscholar   +1 more source

A De Novo ATP1A3 p.Arg995His Variant in a Patient With an Adult‐Onset Primary Lateral Sclerosis‐Like Syndrome

Clinical Genetics, EarlyView.
A 43‐year‐old woman developed a progressive adult‐onset upper motor neuron syndrome fulfilling the clinical criteria for primary lateral sclerosis (PLS), with mild cerebellar involvement. Genetic testing identified a de novo ATP1A3 p.Arg995His variant affecting a highly conserved residue within the transmembrane M8 domain.
Pablo Hernandez‐Vitorique, Marta García de Burgos, Ana Campos Villegas, María José Gómez Heredia, Pilar Carbonell Corvillo   +4 more
wiley   +1 more source

Inborn errors of immunity in children with neuroinflammation

Developmental Medicine &Child Neurology, EarlyView.
Abstract Inborn errors of immunity (IEIs), an expanding group of monogenic disorders with diverse clinical manifestations, are increasingly recognized to include neuroinflammatory disease. Examples of diseases included under this umbrella are Aicardi–Goutières syndrome, deficiency of adenosine deaminase 2, familial haemophagocytic lymphohistiocytosis ...
Eppie M Yiu, Dilan Dissanayake, Jessie Cunningham, Helen Branson, Ori Scott, E Ann Yeh   +5 more
wiley   +1 more source

The Diagnostic Value of Whole-Exome Sequencing in a Spectrum of Rare Neurological Disorders Associated with Cerebellar Atrophy. [PDF]

Mol Neurobiol
Ashaat EA, Ahmed HA, Elaraby NM, Fayez A, Metwally AM, Mekkawy MK, Hussen DF, Ashaat NA, Elhossini RM, ElAwady HA, Abdelgawad RHA, Gammal ME, Al Kersh MA, Saleh DA.   +13 more
europepmc   +1 more source

Newly identified human aminoacyl‐tRNA synthetase complex interacting multifunctional protein 2 (AIMP2) loss‐of‐function mutations cause neurodevelopmental defects linked to cell death in a zebrafish model

The FEBS Journal, EarlyView.
Human AIMP2 mutations lead to severe neurodevelopmental defects and brain atrophy. Using patient‐derived fibroblasts from two individuals, we show decreased AIMP2 protein levels and overall protein synthesis. In a zebrafish loss‐of‐function model, the lack of AIMP2 leads to an increase in cell death and results in smaller brains.
Patrick Mullen, Shenela Lakhani, Joshua Appelbaum, DéJenaé See, Pryce Patterson, Collin M. MacLeod, Alexandra George, Reza Maroofian, Margaret E. Ross, Christopher Francklyn, Alicia M. Ebert   +10 more
wiley   +1 more source

Selective autophagy pathways in ageing and neurodegeneration: Emerging roles for mitophagy and nucleophagy

The FEBS Journal, EarlyView.
As we age, cells gradually accumulate damage, which can contribute to disease and neurodegeneration. This review explores how two cellular recycling processes, mitophagy and nucleophagy, remove damaged mitochondria and nuclear material, respectively, to maintain cell health and long‐term neuronal homeostasis.
Maria Markaki, Nektarios Tavernarakis
wiley   +1 more source

Mini social cognition and emotional assessment: Diagnostic performance and neural correlates in behavioural‐variant frontotemporal dementia

Journal of Neuropsychology, EarlyView.
Abstract We aimed at validating the Mini Social Cognition and Emotional Assessment (Mini‐SEA) in a German cohort of mildly impaired behavioural‐variant frontotemporal dementia (bvFTD) patients and healthy controls. The Mini‐SEA comprises the Facial Emotion Recognition Test (FERT) and the Faux Pas Test (FPT) measuring Theory of Mind (ToM) abilities in ...
Cem Doğdu, Neeraj Upadhyay, Ingo Frommann, Luca Kleineidam, Andreas Johnen, Melina Stark, Sandra Roeske, Annika Spottke, Anna Gamez, Gabor C. Petzold, Louise Droste zu Senden, Julian Hellmann‐Regen, Stefan Hetzer, Klaus Fliessbach, Carolin Miklitz, Emrah Düzel, Falk Lüsebrink, Wenzel Glanz, Stefan Teipel, Ingo Kilimann, Josef Priller, Eike Jakob Spruth, Johannes Prudlo, David Mengel, Klaus Scheffler, Matthis Synofzik, Anja Schneider, Michael Wagner   +27 more
wiley   +1 more source

Neuroanatomy education through the years: Revisiting the teaching slides used by Sir Wilfrid Edward Le Gros Clark

Journal of Anatomy, EarlyView.
This paper examines the life and legacy of British anatomist Sir Wilfrid Le Gros Clark through his neuroanatomical teaching collection at the University of Oxford. The authors catalogued 103 specimens and analyzed selected slides—including cases of multiple sclerosis, amyotrophic lateral sclerosis, tabes dorsalis, syringomyelia, and the pineal gland's ...
Shiva A. Nischal, Kush M. Kale, Katherine Tourigny, Mohammed Abuelem, Gretchen Greene, Rachel Walsh, Zoltán Molnár   +6 more
wiley   +1 more source

Neurite Imaging Reveals Widespread Alterations in Grey Matter Neurite Morphology in Obstructive Sleep Apnoea

Journal of Sleep Research, EarlyView.
ABSTRACT Obstructive sleep apnoea (OSA) is a common chronic multisystem disorder, and cortical structural alterations have been detected via conventional neuroimaging techniques. Recent advances in diffusion‐weighted imaging have yielded novel techniques for investigating neural microstructure, which may potentially offer supplementary insights into ...
Liping Qi, Qiu Chu, Ya‐Jie Liu, Rong‐Hua Li, Ling Wen, Yong‐Zhong Lin   +5 more
wiley   +1 more source