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All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year Sort by creator [A → Z]' creator [Z → A]' publishing year ↑ (asc)' publishing year ↓ (desc)' title [A → Z]' title [Z → A]' Simple Search Page: 1 2 3 4 5...123 Hits 1 – 20 of 2.454 1 Dynamic functional brain network connectivity during pseudoword processing relates to children’s reading skill Panda, Erin J.; Valiante, Taufik A.; Pang, Elizabeth W.. - : Elsevier, 2022 BASE Show details 2 Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy. Korb, Manisha; Peck, Allison; Alfano, Lindsay N... In: Orphanet journal of rare diseases, vol 17, iss 1 (2022) BASE Show details 3 Family history of FXTAS is associated with age-related cognitive-linguistic decline among mothers with the FMR1 premutation. Klusek, Jessica; Fairchild, Amanda; Moser, Carly... In: Journal of neurodevelopmental disorders, vol 14, iss 1 (2022) BASE Show details 4 Cortical microstructure in primary progressive aphasia: a multicenter study. Illán-Gala, Ignacio; Montal, Victor; Borrego-Écija, Sergi... In: Alzheimer's research & therapy, vol 14, iss 1 (2022) BASE Show details 5 Providing a parent-administered outcome measure in a bilingual family of a father and a mother of two adolescents with ASD: brief report. Del Hoyo Soriano, Laura; Bullard, Lauren; Thurman, Angela John... In: Developmental neurorehabilitation, vol 25, iss 2 (2022) BASE Show details 6 Open access dataset of task-free hemodynamic activity in 4-month-old infants during sleep using fNIRS. ... Blanco, Borja; Molnar, Monika; Carreiras, Manuel. - : Apollo - University of Cambridge Repository, 2022 BASE Show details 7 Entwicklung einer neuronalen Leitstruktur für die biomimetische Freisetzung von Wachstumsfaktoren im Rahmen der cochleären Regeneration ... Wille, Inga. - : Hannover : Institutionelles Repositorium der Leibniz Universität Hannover, 2022 BASE Show details 8 A Hermeneutic Phenomenological Study of Teacher Perceptions of the Effects Movement Strategies Have On Student Learning Strickland, Mary Catherine In: Doctoral Dissertations and Projects (2022) BASE Show details 9 Anosognosia in Dementia: Evaluation of Perfusion Correlates Using 99mTc-HMPAO SPECT and Automated Brodmann Areas Analysis Varvara Valotassiou; Nikolaos Sifakis; Chara Tzavara; Evi Lykou; Niki Tsinia; Vasiliki Kamtsadeli; Dimitra Sali; George Angelidis; Dimitrios Psimadas; Eudoxia Theodorou; Ioannis Tsougos; Sokratis G. Papageorgiou; Panagiotis Georgoulias; John Papatriantafyllou In: Diagnostics; Volume 12; Issue 5; Pages: 1136 (2022) BASE Show details 10 Cerebral Polymorphisms for Lateralisation: Modelling the Genetic and Phenotypic Architectures of Multiple Functional Modules Chris McManus In: Symmetry; Volume 14; Issue 4; Pages: 814 (2022) BASE Show details 11 Benefits from Repetitive Transcranial Magnetic Stimulation in Post-Stroke Rehabilitation Michał Starosta; Natalia Cichoń; Joanna Saluk-Bijak; Elżbieta Miller In: Journal of Clinical Medicine; Volume 11; Issue 8; Pages: 2149 (2022) BASE Show details 12 Should Neurosurgeons Try to Preserve Non-Traditional Brain Networks? A Systematic Review of the Neuroscientific Evidence Nicholas B. Dadario; Michael E. Sughrue In: Journal of Personalized Medicine; Volume 12; Issue 4; Pages: 587 (2022) BASE Show details 13 Emergent Neuroimaging Findings for Written Expression in Children: A Scoping Review Lara-Jeane C. Costa; Sarah V. Spencer; Stephen R. Hooper In: Brain Sciences; Volume 12; Issue 3; Pages: 406 (2022) BASE Show details 14 Advancements in Oncology with Artificial Intelligence—A Review Article Nikitha Vobugari; Vikranth Raja; Udhav Sethi; Kejal Gandhi; Kishore Raja; Salim R. Surani In: Cancers; Volume 14; Issue 5; Pages: 1349 (2022) BASE Show details 15 Simultaneous Classification of Both Mental Workload and Stress Level Suitable for an Online Passive Brain–Computer Interface Mahsa Bagheri; Sarah D. Power In: Sensors; Volume 22; Issue 2; Pages: 535 (2022) BASE Show details 16 Expanding the Phenotype of B3GALNT2-Related Disorders Erika D’haenens; Sarah Vergult; Björn Menten; Annelies Dheedene; R. Frank Kooy; Bert Callewaert In: Genes; Volume 13; Issue 4; Pages: 694 (2022) Abstract: Dystroglycanopathies are a group of congenital muscular dystrophies (CMDs) that include a broad phenotypic spectrum ranging from late-onset limb-girdle muscular dystrophy to severe muscle–eye–brain disease, Walker–Warburg syndrome, and Fukuyama congenital muscular dystrophy. In addition to clinical heterogeneity, CMDs are characterized by genetic heterogeneity. To date, 18 genes have been associated with CMDs. One of them is B3GALNT2, which encodes the β-1,3-N-acetylgalactosaminyltransferase 2 that glycosylates α-dystroglycan. In this study, using exome sequencing, we identify a homozygous frameshift variant in B3GALNT2 due to a mixed uniparental disomy of chromosome 1 in a 7-year-old girl with global developmental delay, severely delayed active language development, and autism spectrum disorder but without any symptoms of muscular dystrophy. In addition to this case, we also provide an overview of all previously reported cases, further expanding the phenotypic spectrum. Keyword: B3GLANT2; congenital muscular dystrophy; dystroglycanopathies; Fukuyama congenital muscular dystrophy; muscle–eye–brain disease; uniparental disomy; Walker–Warburg syndrome; whole-exome sequencing URL: https://doi.org/10.3390/genes13040694 BASE Hide details 17 The Neurobiological Correlates of Gaze Perception in Healthy Individuals and Neurologic Patients Simone Battaglia; Jasper H. Fabius; Katarina Moravkova; Alessio Fracasso; Sara Borgomaneri In: Biomedicines; Volume 10; Issue 3; Pages: 627 (2022) BASE Show details 18 Rethinking the Methods and Algorithms for Inner Speech Decoding and Making Them Reproducible Foteini Simistira Liwicki; Vibha Gupta; Rajkumar Saini; Kanjar De; Marcus Liwicki In: NeuroSci; Volume 3; Issue 2; Pages: 226-244 (2022) BASE Show details 19 CEREBRAL ABSCESS AND MYCOTIC ANEURYSM AS A CONSEQUENCE OF INFECTIVE ENDOCARDITIS: A CASE REPORT ... Achraf Machraa, Zineb Fassi Fehri. - : Zenodo, 2022 BASE Show details 20 CEREBRAL ABSCESS AND MYCOTIC ANEURYSM AS A CONSEQUENCE OF INFECTIVE ENDOCARDITIS: A CASE REPORT ... Achraf Machraa, Zineb Fassi Fehri. - : Zenodo, 2022 BASE Show details Page: 1 2 3 4 5...123

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