Suchergebnisse - "Brain Diseases"

Late-onset cerebellar ataxia and a new frameshift L2HGDH mutation in a Chinese adult with L-2-hydroxyglutaric aciduria: a case report.

Autoren: Ding S Yajun E He Y

Quelle: Acta neurologica Belgica [Acta Neurol Belg] 2024 Aug; Vol. 124 (4), pp. 1233-1236. Date of Electronic Publication: 2024 May 04.

Publikationsart: Case Reports; Journal Article

Info zur Zeitschrift: Publisher: Springer Country of Publication: Italy NLM ID: 0247035 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2240-2993 (Electronic) Linking ISSN: 03009009 NLM ISO Abbreviation: Acta Neurol Belg Subsets: MEDLINE

MeSH-Schlagworte: Alcohol Oxidoreductases*/genetics , Brain Diseases, Metabolic, Inborn*/genetics , Brain Diseases, Metabolic, Inborn*/diagnosis , Cerebellar Ataxia*/genetics, Adult ; Humans ; Brain Diseases, Metabolic/genetics ; Brain Diseases, Metabolic/diagnosis ; East Asian People ; Frameshift Mutation/genetics

SCR Disease Name: 2-Hydroxyglutaricaciduria

Vesicle-guided mitochondria: A new perspective for brain mitochondrial transplantation.

Autoren: Girgenti A Palumbo L Kubat GB et al.

Quelle: Ageing research reviews [Ageing Res Rev] 2025 Dec; Vol. 112, pp. 102881. Date of Electronic Publication: 2025 Aug 26.

Publikationsart: Journal Article; Review

Info zur Zeitschrift: Publisher: Elsevier Science Country of Publication: England NLM ID: 101128963 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1872-9649 (Electronic) Linking ISSN: 15681637 NLM ISO Abbreviation: Ageing Res Rev Subsets: MEDLINE

MeSH-Schlagworte: Mitochondria*/transplantation , Mitochondria*/metabolism , Brain*/metabolism , Brain Diseases*/therapy , Brain Diseases*/metabolism, Humans ; Animals

An Ensemble CNN With Bayesian Learning Model for Multiclass Classification of Brain Disease Using Adaptive Refinement Network-Based Segmentation.

Autoren: Sreedevi A Kumar NN Panse T

Quelle: NMR in biomedicine [NMR Biomed] 2025 Dec; Vol. 38 (12), pp. e70166.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: Wiley Country of Publication: England NLM ID: 8915233 Publication Model: Print Cited Medium: Internet ISSN: 1099-1492 (Electronic) Linking ISSN: 09523480 NLM ISO Abbreviation: NMR Biomed Subsets: MEDLINE

MeSH-Schlagworte: Neural Networks, Computer* , Brain Diseases*/diagnostic imaging , Brain Diseases*/classification, Bayes Theorem ; Humans ; Algorithms ; Magnetic Resonance Imaging ; Deep Learning ; Brain/diagnostic imaging

Targeting Multilayered Metabolic Networks in Brain Diseases: Emerging Perspectives on Nanodelivery Strategies.

Autoren: Zhou J Jiang C

Quelle: Advanced science (Weinheim, Baden-Wurttemberg, Germany) [Adv Sci (Weinh)] 2025 Nov; Vol. 12 (41), pp. e03645. Date of Electronic Publication: 2025 Sep 25.

Publikationsart: Journal Article; Review

Info zur Zeitschrift: Publisher: WILEY-VCH Country of Publication: Germany NLM ID: 101664569 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2198-3844 (Electronic) Linking ISSN: 21983844 NLM ISO Abbreviation: Adv Sci (Weinh) Subsets: MEDLINE

MeSH-Schlagworte: Metabolic Networks and Pathways*/physiology , Metabolic Networks and Pathways*/drug effects , Brain Diseases*/metabolism , Brain Diseases*/drug therapy , Drug Delivery Systems*/methods , Brain*/metabolism, Humans ; Animals

Steroid-responsive Encephalopathy with a Primary CMV Infection Complicated by Enteritis in a Young Woman with Ulcerative Colitis.

Autoren: Oka R Yoshimura H Hara S et al.

Quelle: Internal medicine (Tokyo, Japan) [Intern Med] 2025 Dec 01; Vol. 64 (23), pp. 3443-3446. Date of Electronic Publication: 2025 May 29.

Publikationsart: Journal Article; Case Reports

Info zur Zeitschrift: Publisher: Japanese Society of Internal Medicine Country of Publication: Japan NLM ID: 9204241 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1349-7235 (Electronic) Linking ISSN: 09182918 NLM ISO Abbreviation: Intern Med Subsets: MEDLINE

MeSH-Schlagworte: Colitis, Ulcerative*/complications , Colitis, Ulcerative*/drug therapy , Colitis, Ulcerative*/diagnosis , Cytomegalovirus Infections*/complications , Cytomegalovirus Infections*/drug therapy , Cytomegalovirus Infections*/diagnosis , Enteritis*/complications , Enteritis*/drug therapy , Enteritis*/diagnosis , Brain Diseases*/drug therapy , Brain Diseases*/diagnosis , Brain Diseases*/complications , Steroids*/therapeutic use, Humans ; Female ; Young Adult ; Ganciclovir/therapeutic use ; Antiviral Agents/therapeutic use

PIGC-related encephalopathy: Lessons learned from 18 new probands.

Autoren: Bayat A Borroto MC Salian S et al.

Quelle: European journal of human genetics : EJHG [Eur J Hum Genet] 2025 Dec; Vol. 33 (12), pp. 1636-1646. Date of Electronic Publication: 2025 Sep 17.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

MeSH-Schlagworte: Brain Diseases*/genetics , Brain Diseases*/pathology , Membrane Proteins*/genetics, Humans ; Female ; Male ; Child, Preschool ; Child ; Infant ; Infant, Newborn ; Seizures/genetics ; Seizures/pathology ; Mutation

Etiology-specific diagnosis of cytotoxic lesions of the corpus callosum (CLOCC) in a single-center pediatric cohort: diagnostic challenges and outcome characteristics.

Autoren: Ataş Y Eraslan C Ince T et al.

Quelle: Brain & development [Brain Dev] 2025 Dec; Vol. 47 (6), pp. 104472. Date of Electronic Publication: 2025 Oct 26.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 7909235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1872-7131 (Electronic) Linking ISSN: 03877604 NLM ISO Abbreviation: Brain Dev Subsets: MEDLINE

MeSH-Schlagworte: Corpus Callosum*/diagnostic imaging , Corpus Callosum*/pathology , Brain Diseases*/etiology , Brain Diseases*/diagnostic imaging, Humans ; Child ; Male ; Female ; Child, Preschool ; Magnetic Resonance Imaging/methods ; Adolescent ; Infant ; Cohort Studies ; Retrospective Studies

The paradise-24 questionnaire: a review of language versions, psychometric evidence, and application in brain disorder.

Autoren: Castro Silva LK Oliveira Lima LA Sabariego C et al.

Quelle: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2025 Dec; Vol. 46 (12), pp. 6181-6192. Date of Electronic Publication: 2025 Oct 07.

Publikationsart: Journal Article; Systematic Review; Review

Info zur Zeitschrift: Publisher: Springer-Verlag Italia Country of Publication: Italy NLM ID: 100959175 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1590-3478 (Electronic) Linking ISSN: 15901874 NLM ISO Abbreviation: Neurol Sci Subsets: MEDLINE

MeSH-Schlagworte: Psychometrics* , Brain Diseases*/diagnosis , Brain Diseases*/psychology, Humans ; Surveys and Questionnaires ; Reproducibility of Results

Intracranial calcifications in congenital viral infections: mechanisms and cellular roles.

Autoren: Fraczek M Breckenridge H Melano I et al.

Quelle: Current opinion in virology [Curr Opin Virol] 2025 Dec; Vol. 73, pp. 101479. Date of Electronic Publication: 2025 Sep 06.

Publikationsart: Journal Article; Review

Info zur Zeitschrift: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101560941 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-6265 (Electronic) Linking ISSN: 18796257 NLM ISO Abbreviation: Curr Opin Virol Subsets: MEDLINE

MeSH-Schlagworte: Calcinosis*/virology , Calcinosis*/pathology , Virus Diseases*/congenital , Virus Diseases*/complications , Virus Diseases*/pathology , Brain Diseases*/virology , Brain Diseases*/pathology, Humans ; Animals ; Brain/pathology ; Brain/virology ; Microglia/virology ; Microglia/pathology ; Cytomegalovirus Infections/congenital ; Cytomegalovirus Infections/complications ; Cytomegalovirus Infections/pathology ; Zika Virus Infection/congenital ; Zika Virus Infection/pathology ; Zika Virus Infection/complications ; Cytomegalovirus

GSAformer: Group sparse attention transformer for functional brain network analysis.

Autoren: Zhou L Jiang X Pang M et al.

Quelle: Neural networks : the official journal of the International Neural Network Society [Neural Netw] 2025 Dec; Vol. 192, pp. 107891. Date of Electronic Publication: 2025 Jul 22.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: Pergamon Press Country of Publication: United States NLM ID: 8805018 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-2782 (Electronic) Linking ISSN: 08936080 NLM ISO Abbreviation: Neural Netw Subsets: MEDLINE

MeSH-Schlagworte: Brain*/diagnostic imaging , Brain*/physiology , Brain*/physiopathology , Attention*/physiology , Nerve Net*/diagnostic imaging , Nerve Net*/physiology , Brain Diseases*/physiopathology , Brain Diseases*/diagnostic imaging , Brain Diseases*/classification, Humans ; Magnetic Resonance Imaging/methods ; Neural Networks, Computer ; Algorithms ; Models, Neurological

Regulation of the brain-placental axis, and its relevance to the health and disease of the offspring.

Autoren: Behura SK; Division of Animal Sciences, Institute for Data Science and Informatics, Interdisciplinary Reproduction and Health Group, Interdisciplinary Neuroscience Program, University of Missouri, Columbia, Missouri, USA.

Quelle: Systems biology in reproductive medicine [Syst Biol Reprod Med] 2025 Dec; Vol. 71 (1), pp. 504-523. Date of Electronic Publication: 2025 Oct 06.

Publikationsart: Journal Article; Review

Info zur Zeitschrift: Publisher: Informa Healthcare Country of Publication: England NLM ID: 101464963 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1939-6376 (Electronic) Linking ISSN: 19396368 NLM ISO Abbreviation: Syst Biol Reprod Med Subsets: MEDLINE

MeSH-Schlagworte: Brain*/embryology , Brain*/metabolism , Brain*/physiology , Placenta*/metabolism , Placenta*/physiology , Placenta*/physiopathology , Fetal Development* , Brain Diseases*/physiopathology , Brain Diseases*/etiology, Pregnancy ; Female ; Humans ; Animals

Efficacy evaluation of medium-chain triglycerides supplementation on acute severe encephalopathy.

Autoren: Zuo Y Wu H (co-first author) Liu P et al.

Quelle: Nutritional neuroscience [Nutr Neurosci] 2025 Dec; Vol. 28 (12), pp. 1480-1487. Date of Electronic Publication: 2025 Jul 17.

Publikationsart: Journal Article; Randomized Controlled Trial

Info zur Zeitschrift: Publisher: Taylor & Francis Country of Publication: England NLM ID: 100892202 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-8305 (Electronic) Linking ISSN: 1028415X NLM ISO Abbreviation: Nutr Neurosci Subsets: MEDLINE

MeSH-Schlagworte: Triglycerides*/administration & dosage , Triglycerides*/therapeutic use , Dietary Supplements* , Brain Diseases*/mortality , Brain Diseases*/diet therapy, Humans ; Female ; Male ; Middle Aged ; Double-Blind Method ; Treatment Outcome ; Aged ; Length of Stay ; Respiration, Artificial ; Intensive Care Units ; Acute Disease ; Adult

Frequency, severity, and patterns of magnetic resonance imaging abnormalities in neonatal encephalopathy after therapeutic hypothermia and short-term outcomes.

Autoren: Sakpichaisakul K Vinaisuratern P Laoyookhong P et al.

Quelle: The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians [J Matern Fetal Neonatal Med] 2025 Dec; Vol. 38 (1), pp. 2498547. Date of Electronic Publication: 2025 May 01.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: Informa Healthcare Country of Publication: England NLM ID: 101136916 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-4954 (Electronic) Linking ISSN: 14764954 NLM ISO Abbreviation: J Matern Fetal Neonatal Med Subsets: MEDLINE

MeSH-Schlagworte: Hypothermia, Induced*/adverse effects , Magnetic Resonance Imaging*/statistics & numerical data , Hypoxia-Ischemia, Brain*/therapy , Hypoxia-Ischemia, Brain*/diagnostic imaging , Brain Diseases*/diagnostic imaging , Brain Diseases*/therapy , Infant, Newborn, Diseases*/therapy , Infant, Newborn, Diseases*/diagnostic imaging, Humans ; Infant, Newborn ; Retrospective Studies ; Female ; Male ; Severity of Illness Index ; Length of Stay/statistics & numerical data

Unforeseen Positive Impacts of a Neonatal Encephalopathy Teleconsultation Program: Insights From Clinicians Practicing in a Rural State.

Autoren: Scharnetzki E Seften LM Kirezi C et al.

Quelle: Pediatric neurology [Pediatr Neurol] 2025 Dec; Vol. 173, pp. 41-46. Date of Electronic Publication: 2025 Sep 08.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: Elsevier Science Publishing Country of Publication: United States NLM ID: 8508183 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-5150 (Electronic) Linking ISSN: 08878994 NLM ISO Abbreviation: Pediatr Neurol Subsets: MEDLINE

MeSH-Schlagworte: Remote Consultation* , Brain Diseases*/therapy , Brain Diseases*/diagnosis , Infant, Newborn, Diseases*/therapy , Telemedicine* , Rural Health Services*, Humans ; Infant, Newborn ; Maine ; Female ; Rural Population ; Male

Abnormal intrinsic brain functional network dynamics in delayed encephalopathy after carbon monoxide poisoning.

Autoren: Yi J Lv H He L et al.

Quelle: Scientific reports [Sci Rep] 2025 Nov 25; Vol. 15 (1), pp. 41998. Date of Electronic Publication: 2025 Nov 25.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE

MeSH-Schlagworte: Carbon Monoxide Poisoning*/complications , Carbon Monoxide Poisoning*/physiopathology , Carbon Monoxide Poisoning*/diagnostic imaging , Brain*/physiopathology , Brain*/diagnostic imaging , Nerve Net*/physiopathology , Nerve Net*/diagnostic imaging , Brain Diseases*/physiopathology , Brain Diseases*/etiology , Brain Diseases*/diagnostic imaging, Humans ; Male ; Female ; Magnetic Resonance Imaging ; Adult ; Middle Aged ; Case-Control Studies

The Ubiquitin-Proteasome System in Brain Disorders: Pathogenic Pathways, Post-Translational Tweaks, and Therapeutic Frontiers.

Autoren: Gupta R Begum MY Kumar R et al.

Quelle: Journal of neuroimmune pharmacology : the official journal of the Society on NeuroImmune Pharmacology [J Neuroimmune Pharmacol] 2025 Nov 20; Vol. 20 (1), pp. 105. Date of Electronic Publication: 2025 Nov 20.

Publikationsart: Journal Article; Review

Info zur Zeitschrift: Publisher: Springer Science + Business Media Country of Publication: United States NLM ID: 101256586 Publication Model: Electronic Cited Medium: Internet ISSN: 1557-1904 (Electronic) Linking ISSN: 15571890 NLM ISO Abbreviation: J Neuroimmune Pharmacol Subsets: MEDLINE

MeSH-Schlagworte: Proteasome Endopeptidase Complex*/metabolism , Ubiquitin*/metabolism , Protein Processing, Post-Translational*/physiology , Brain Diseases*/metabolism , Brain Diseases*/drug therapy, Humans ; Animals ; Ubiquitination/physiology

What we can learn from the first personalized CRISPR-treated baby to tackle genetic brain disorders.

Autoren: Yang Y; Borch Department of Medicinal Chemistry and Molecular Pharmacology, College of Pharmacy, Purdue University, West Lafayette, IN, USA; Purdue Institute for Integrative Neuroscience, Purdue University, West Lafayette, IN, USA. Electronic address: yangyang@purdue.edu.

Quelle: Neuron [Neuron] 2025 Nov 19; Vol. 113 (22), pp. 3697-3702. Date of Electronic Publication: 2025 Nov 12.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: Cell Press Country of Publication: United States NLM ID: 8809320 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-4199 (Electronic) Linking ISSN: 08966273 NLM ISO Abbreviation: Neuron Subsets: MEDLINE

MeSH-Schlagworte: Gene Editing*/methods , Genetic Therapy*/methods , CRISPR-Cas Systems*/genetics , Brain Diseases*/genetics , Brain Diseases*/therapy , Precision Medicine*/methods, Humans ; Infant

Retinal Neurovascular Coupling: From Mechanisms to a Diagnostic Window into Brain Disorders.

Autoren: Shen W; Department of Biomedical Science, Charles E Schmidt College of Medicine, Florida Atlantic University, Boca Raton, FL 33431, USA.

Quelle: Cells [Cells] 2025 Nov 16; Vol. 14 (22). Date of Electronic Publication: 2025 Nov 16.

Publikationsart: Journal Article; Review

Info zur Zeitschrift: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101600052 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4409 (Electronic) Linking ISSN: 20734409 NLM ISO Abbreviation: Cells Subsets: MEDLINE

MeSH-Schlagworte: Neurovascular Coupling*/physiology , Retina*/physiopathology , Retina*/diagnostic imaging , Retina*/pathology , Brain Diseases*/diagnosis , Brain Diseases*/physiopathology, Humans ; Animals ; Tomography, Optical Coherence

Odd-Chain Dicarboxylic Acid Feeding Produces a Glutaric Aciduria Type 1-Like Metabolic Signature in Mice.

Autoren: Richert AC Zhang Y Bharathi SS et al.

Quelle: FASEB journal : official publication of the Federation of American Societies for Experimental Biology [FASEB J] 2025 Nov 15; Vol. 39 (21), pp. e71215.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: Federation of American Societies for Experimental Biology Country of Publication: United States NLM ID: 8804484 Publication Model: Print Cited Medium: Internet ISSN: 1530-6860 (Electronic) Linking ISSN: 08926638 NLM ISO Abbreviation: FASEB J Subsets: MEDLINE

MeSH-Schlagworte: Amino Acid Metabolism, Inborn Errors*/metabolism , Amino Acid Metabolism, Inborn Errors*/pathology , Glutaryl-CoA Dehydrogenase*/deficiency , Glutaryl-CoA Dehydrogenase*/metabolism , Dicarboxylic Acids*/metabolism , Dicarboxylic Acids*/administration & dosage , Brain Diseases, Metabolic*/metabolism , Brain Diseases, Metabolic*/chemically induced , Brain Diseases, Metabolic*/pathology, Animals ; Mice ; Glutarates/metabolism ; Mitochondria/metabolism ; Peroxisomes/metabolism ; Male ; Mice, Inbred C57BL

SCR Disease Name: Glutaric Acidemia I

Brain fog and protein logs: unravelling encephalopathy in lysinuric protein intolerance with rare mutation and expanded phenotypic spectrum.

Autoren: Singh G Kaur N Verma PK et al.

Quelle: BMJ case reports [BMJ Case Rep] 2025 Nov 12; Vol. 18 (11). Date of Electronic Publication: 2025 Nov 12.

Publikationsart: Journal Article; Case Reports

Info zur Zeitschrift: Publisher: BMJ Pub. Group Country of Publication: England NLM ID: 101526291 Publication Model: Electronic Cited Medium: Internet ISSN: 1757-790X (Electronic) Linking ISSN: 1757790X NLM ISO Abbreviation: BMJ Case Rep Subsets: MEDLINE

MeSH-Schlagworte: Amino Acid Metabolism, Inborn Errors*/genetics , Amino Acid Metabolism, Inborn Errors*/complications , Amino Acid Metabolism, Inborn Errors*/diagnosis , Brain Diseases*/genetics , Brain Diseases*/etiology , Brain Diseases*/diagnostic imaging , Fusion Regulatory Protein 1, Light Chains*/genetics, Humans ; Mutation ; Male ; Infant ; Phenotype ; Brain/diagnostic imaging ; Female ; Magnetic Resonance Imaging ; Amino Acid Transport System y+L

SCR Disease Name: Lysinuric Protein Intolerance