Search Results - "PSYCHIATRY AND PSYCHOLOGY::Mental Disorders::Neurodevelopmental Disorders"

Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder

Authors: Stephanie Efthymiou Cailyn P. Leo Chenghong Deng et al.

Contributors: Stephanie Efthymiou Cailyn P. Leo Chenghong Deng et al.

Source: Am J Hum Genet
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
Efthymiou, S, Leo, C P, Deng, C, Lin, S-J, Maroofian, R, Lin, R, Karagoz, I, Zhang, K, Kaiyrzhanov, R, Scardamaglia, A, Owrang, D, Turchetti, V, Jahnke, F, Huang, K, Petree, C, Derrick, A V, Rees, M I, Alvi, J R, Sultan, T, Li, C, Jacquemont, M-L, Tran-Mau-Them, F, Valenzuela-Palafoll, M, Sidlow, R, Yoon, G, Morrow, M M, Carere, D A, O'Connor, M, Fleischer, J, Gerkes, E H, Phornphutkul, C, Isidor, B, Rivier-Ringenbach, C, Philippe, C, Kurul, S H, Soydemir, D, Kara, B, Sunnetci-Akkoyunlu, D, Bothe, V, Platzer, K, Wieczorek, D, Koch-Hogrebe, M, Rahner, N, Thuresson, A-C, Matsson, H, Frykholm, C, Bozdoğan, S T, Bisgin, A, Chatron, N, Lesca, G, Cabet, S, Tümer, Z, Hjortshøj, T D, Rønde, G, Marquardt, T, Reunert, J, Afzal, E, Zamani, M, Azizimalamiri, R, Galehdari, H, Nourbakhsh, P, Chamanrou, N, Chung, S-K, Suri, M, Benke, P J, Zaki, M S, Gleeson, J G, Calame, D G, Pehlivan, D, Yilmaz, H I, Gezdirici, A, Rad, A, Abumansour, I S, Oprea, G, Bereketoğlu, M B, Banneau, G, Julia, S, Zeighami, J, Ashoori, S, Shariati, G, Sedaghat, A, Sabri, A, Hamid, M, Parvas, S, Tajudin, T A, Abdullah, U, Baig, S M, Chung, W K, Glazunova, O O, Sabine, S, Cheema, H A, Zifarelli, G, Bauer, P, Sidpra, J, Mankad, K, Vona, B, Fry, A E, Varshney, G K, Houlden, H & Fu, D 2025, ' Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder ', American Journal of Human Genetics, vol. 112, no. 5, pp. 1117-1138 . https://doi.org/10.1016/j.ajhg.2025.03.015

Subject Terms: Male, Other subheadings::Other subheadings::Other subheadings::/genetics, Adolescent, Peix zebra, Cell- och molekylärbiologi, PSIQUIATRÍA Y PSICOLOGÍA::trastornos mentales::trastornos del desarrollo neurológico, ORGANISMOS::Eukaryota::animales::Chordata::vertebrados::peces::Cipriniformes::Cyprinidae::pez cebra, ENFERMEDADES::enfermedades del sistema nervioso::manifestaciones neurológicas::manifestaciones neuroconductuales::discapacidad intelectual, Article, Medical Genetics and Genomics, FENÓMENOS Y PROCESOS::fenómenos genéticos::estructuras genéticas::genoma::componentes genómicos::genes::alelos, RNA, Transfer, DISEASES::Nervous System Diseases::Neurologic Manifestations::Neurobehavioral Manifestations::Intellectual Disability, Otros calificadores::Otros calificadores::Otros calificadores::/genética, Intellectual Disability, ORGANISMS::Eukaryota::Animals::Chordata::Vertebrates::Fishes::Cypriniformes::Cyprinidae::Zebrafish, Humans, Animals, RNA Processing, Post-Transcriptional, Child, Zebrafish, Alleles, tRNA Methyltransferases, Discapacitat intel·lectual - Aspectes genètics, disease model, Neurosciences, zebrafish, neurodevelopmental disorder, Medicinsk genetik och genomik, CHEMICALS AND DRUGS::Nucleic Acids, Nucleotides, and Nucleosides::Nucleic Acids::RNA::RNA, Transfer, COMPUESTOS QUÍMICOS Y DROGAS::nucleótidos y nucleósidos de ácidos nucleicos::ácidos nucleicos::ARN::ARN de transferencia, intellectual disability, Neurodevelopmental Disorders, Child, Preschool, TRMT1, RNA, Female, tRNA modification, Trastorns del desenvolupament - Aspectes genètics, PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::Alleles, Neurovetenskaper, Cell and Molecular Biology, PSYCHIATRY AND PSYCHOLOGY::Mental Disorders::Neurodevelopmental Disorders

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Access URL: https://pubmed.ncbi.nlm.nih.gov/40245862
http://hdl.handle.net/11351/13177
https://avesis.kocaeli.edu.tr/publication/details/aa7afc7e-34dc-4173-b698-617d6da7cb61/oai
https://cronfa.swan.ac.uk/Record/cronfa69406/Download/69406__34168__968ddcf0ddc14e3aafccddf19ff57aeb.pdf
https://resolver.sub.uni-goettingen.de/purl?gro-2/149156
https://curis.ku.dk/ws/files/451258628/1-s2.0-S0002929725001363-main.pdf
http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-558965

Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy

Authors: Daniel Greene Koenraad De Wispelaere Jon Lees et al.

Contributors: Daniel Greene Koenraad De Wispelaere Jon Lees et al.

Source: Nat Genet
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
Nature Genetics, 57, 6, pp. 1367-1373

Subject Terms: Male, Letter, U2, Adolescent, 3001 Agricultural biotechnology, SNRNA, PSIQUIATRÍA Y PSICOLOGÍA::trastornos mentales::trastornos del desarrollo neurológico, SPLICEOSOME, CHEMICALS AND DRUGS::Nucleic Acids, Nucleotides, and Nucleosides::Nucleic Acids::RNA::RNA, Nuclear::RNA, Small Nuclear, ENFERMEDADES::enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades cerebrales::epilepsia, DISEASES::Nervous System Diseases::Central Nervous System Diseases::Brain Diseases::Epilepsy, 3105 Genetics, U6, DEVELOPMENTAL DISORDER, RNA, Small Nuclear, Intellectual Disability, Humans, Child, Germ-Line Mutation, 11 Medical and Health Sciences, Genetics & Heredity, COMPUESTOS QUÍMICOS Y DROGAS::nucleótidos y nucleósidos de ácidos nucleicos::ácidos nucleicos::ARN::ARN nuclear::ARN nuclear pequeño, FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación, Science & Technology, Epilepsy, ASSOCIATION, 06 Biological Sciences, COMPONENT, Epilèpsia, Anomalies cromosòmiques, Neurodevelopmental Disorders, Child, Preschool, PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation, Mutation, Microcephaly, Human Genetics - Development and lifelong plasticity, 3102 Bioinformatics and computational biology, RNA, Female, PATHOGENIC VARIANTS, Malalties mentals, Life Sciences & Biomedicine, Pseudogenes, PSYCHIATRY AND PSYCHOLOGY::Mental Disorders::Neurodevelopmental Disorders, Developmental Biology

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Access URL: https://pubmed.ncbi.nlm.nih.gov/40210679
http://hdl.handle.net/11351/13372
https://hdl.handle.net/https://repository.ubn.ru.nl/handle/2066/320178
https://hdl.handle.net/11370/27c121bb-73e6-4f5d-9fc9-f3c9c3c36926
https://doi.org/10.1038/s41588-025-02159-5
https://research.rug.nl/en/publications/27c121bb-73e6-4f5d-9fc9-f3c9c3c36926
https://hdl.handle.net/2066/320178
https://repository.ubn.ru.nl//bitstream/handle/2066/320178/320178.pdf
https://www.repository.cam.ac.uk/handle/1810/385609
https://doi.org/10.1038/s41588-025-02159-5

Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals

Authors: Dana E. Layo-Carris Emily E. Lubin Annabel K. Sangree et al.

Contributors: Dana E. Layo-Carris Emily E. Lubin Annabel K. Sangree et al.

Source: Eur J Hum Genet
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
European journal of human genetics
Layo-Carris, Dana E; Lubin, Emily E; Sangree, Annabel K; Clark, Kelly J; Durham, Emily L; Gonzalez, Elizabeth M; Smith, Sarina; Angireddy, Rajesh; Wang, Xiao Min; Weiss, Erin; Mendoza-Londono, Roberto; Dupuis, Lucie; Damseh, Nadirah; Velasco, Danita; Valenzuela, Irene; Codina-Solà, Marta; Ziats, Catherine; Have, Jaclyn; Clarkson, Katie; Steel, Dora; ... (2024). Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals. European journal of human genetics, 32(8), pp. 928-937. Springer Nature 10.1038/s41431-024-01610-1 <http://dx.doi.org/10.1038/s41431-024-01610-1>

Subject Terms: Male, 0301 basic medicine, PSIQUIATRÍA Y PSICOLOGÍA::trastornos mentales::trastornos del desarrollo neurológico, Intellectual disability, Gene, Histones, Genetic heterogeneity, FENÓMENOS Y PROCESOS::fenómenos genéticos::fenotipo, PHENOMENA AND PROCESSES::Genetic Phenomena::Phenotype, Genetics(clinical), Missense mutation, Child, 0303 health sciences, Life Sciences, Neurodegenerative Diseases, 16. Peace & justice, Genomic Rearrangements and Copy Number Variations, 3. Good health, Fenotip, Chemistry, Phenotype, Child, Preschool, Molecular Basis of Rett Syndrome and Related Disorders, Female, Epigenetics, Trastorns del desenvolupament - Aspectes genètics, Adult, Adolescent, 610 Medicine & health, Hypotonia, Adolescent [MeSH], Female [MeSH], Adult [MeSH], Histones/genetics [MeSH], Humans [MeSH], Neurodevelopmental Disorders/pathology [MeSH], Intellectual Disability/genetics [MeSH], 631/208/1516, Neurodegenerative Diseases/pathology [MeSH], Neurodevelopmental Disorders/genetics [MeSH], Neurodegenerative Diseases/genetics [MeSH], Intellectual Disability/pathology [MeSH], 631/208/366, Article, Male [MeSH], Phenotype [MeSH], Child [MeSH], article, Child, Preschool [MeSH], 03 medical and health sciences, Neurodevelopmental disorder, Intellectual Disability, Biochemistry, Genetics and Molecular Biology, Journal Article, Genetics, DISEASES::Pathological Conditions, Signs and Symptoms::Signs and Symptoms::Neurologic Manifestations::Neurobehavioral Manifestations::Intellectual Disability, ENFERMEDADES::afecciones patológicas, signos y síntomas::signos y síntomas::manifestaciones neurológicas::manifestaciones neuroconductuales::discapacidad intelectual, Humans, Discapacitat intel·lectual, Biology, Brain Development, Standards and Guidelines for Genetic Variant Interpretation, Neurodevelopmental Disorders, FOS: Biological sciences, Human medicine, PSYCHIATRY AND PSYCHOLOGY::Mental Disorders::Neurodevelopmental Disorders

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Access URL: https://pubmed.ncbi.nlm.nih.gov/38678163
https://hdl.handle.net/11351/11842
https://dspace.library.uu.nl/handle/1874/454819
https://hdl.handle.net/1887/4210177
https://hdl.handle.net/10067/2058020151162165141
https://repository.uantwerpen.be/docstore/d:irua:23508
https://boris.unibe.ch/196319/
https://repository.publisso.de/resource/frl:6492310
https://discovery-pp.ucl.ac.uk/id/eprint/10191954/

Clinical and Molecular Spectrum of Autosomal Recessive CA8‐Related Cerebellar Ataxia

Authors: Rauan Kaiyrzhanov Juan Darío Ortigoza‐Escobar Brett W. Stringer et al.

Contributors: Rauan Kaiyrzhanov Juan Darío Ortigoza‐Escobar Brett W. Stringer et al.

Source: Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname

Subject Terms: Male, Adult, 0301 basic medicine, Other subheadings::Other subheadings::Other subheadings::/genetics, Vermis atrophy, Cerebellar Ataxia, Adolescent, Cells, ENFERMEDADES::enfermedades del sistema nervioso::enfermedades del sistema nervioso::manifestaciones neurológicas::discinesias::ataxia::ataxia cerebelosa, PSIQUIATRÍA Y PSICOLOGÍA::trastornos mentales::trastornos del desarrollo neurológico, Anoctamins, Clinical sciences, Nervous System, Atàxia - Aspectes genètics, Young Adult, 03 medical and health sciences, CA8, Otros calificadores::Otros calificadores::Otros calificadores::/genética, FENÓMENOS Y PROCESOS::fenómenos genéticos::fenotipo, Intellectual Disability, PHENOMENA AND PROCESSES::Genetic Phenomena::Phenotype, Humans, Animals, Child, Zebrafish, 0303 health sciences, Neurosciences, 3. Good health, Fenotip, Tissues, Phenotype, Neurology, Neurodevelopmental Disorders, Child, Preschool, Cerebellar atrophy, DISEASES::Nervous System Diseases::Nervous System Diseases::Neurologic Manifestations::Dyskinesias::Ataxia::Cerebellar Ataxia, Ataxia, Female, Trastorns del desenvolupament - Aspectes genètics, PSYCHIATRY AND PSYCHOLOGY::Mental Disorders::Neurodevelopmental Disorders

File Description: application/pdf

Access URL: https://pubmed.ncbi.nlm.nih.gov/38581205
https://hdl.handle.net/11351/11654

RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS

Authors: Avinash V. Dharmadhikari Maria Alba Abad Sheraz Khan et al.

Contributors: Avinash V. Dharmadhikari Maria Alba Abad Sheraz Khan et al.

Source: Nat Commun
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
Nature Communications, Vol 16, Iss 1, Pp 1-24 (2025)

Subject Terms: Neurobiologia del desenvolupament, Male, Peix zebra, Science, PSIQUIATRÍA Y PSICOLOGÍA::trastornos mentales::trastornos del desarrollo neurológico, Mutation, Missense, Microtúbuls, ANATOMY::Cells::Cellular Structures::Intracellular Space::Cytoplasm::Cytoplasmic Structures::Cytoskeleton::Spindle Apparatus, FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación::mutación de sentido erróneo, ORGANISMOS::Eukaryota::animales::Chordata::vertebrados::peces::Cipriniformes::Cyprinidae::pez cebra, Spindle Apparatus, Article, Chromosome Segregation, PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation::Mutation, Missense, ORGANISMS::Eukaryota::Animals::Chordata::Vertebrates::Fishes::Cypriniformes::Cyprinidae::Zebrafish, Humans, Animals, Child, Zebrafish, Centrosome, Methyltransferases, Anomalies cromosòmiques, Neurodevelopmental Disorders, ANATOMÍA::células::estructuras celulares::espacio intracelular::citoplasma::estructuras citoplasmáticas::citoesqueleto::huso acromático, Child, Preschool, Microcephaly, Female, Malalties mentals, PSYCHIATRY AND PSYCHOLOGY::Mental Disorders::Neurodevelopmental Disorders

File Description: application/pdf

Access URL: https://pubmed.ncbi.nlm.nih.gov/39962046
http://hdl.handle.net/11351/12853
https://doaj.org/article/860e70257811492c86104f77a86c65ba

Neurodevelopmental outcomes in congenital heart disease: Usefulness of biomarkers of brain injury

Authors: Laia Vega Puyal Elisa Llurba Queralt Ferrer et al.

Contributors: Laia Vega Puyal Elisa Llurba Queralt Ferrer et al.

Source: Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
Anales de Pediatría (English Edition), Vol 100, Iss 1, Pp 13-24 (2024)

Subject Terms: Heart Defects, Congenital, Enolasa neuronal específica, PSIQUIATRÍA Y PSICOLOGÍA::trastornos mentales::trastornos del desarrollo neurológico, Neurodesarrollo, S100B, Pediatrics, Univentricular Heart, RJ1-570, Cor - Cirurgia, ENFERMEDADES::enfermedades cardiovasculares::anomalías cardiovasculares::cardiopatías congénitas, DISEASES::Cardiovascular Diseases::Cardiovascular Abnormalities::Heart Defects, Congenital, Trastorns del desenvolupament, Pregnancy, Humans, Cardiac Surgical Procedures, Infant, ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Surgical Procedures, Operative::Cardiovascular Surgical Procedures::Cardiac Surgical Procedures, NAMED GROUPS::Persons::Age Groups::Child::Child, Preschool, Cardiopatía congénita, 3. Good health, Biomarcadores, Child, Preschool, Brain Injuries, Cardiopatia congènita en els infants, Female, DENOMINACIONES DE GRUPOS::personas::Grupos de Edad::niño::niño preescolar, PSYCHIATRY AND PSYCHOLOGY::Mental Disorders::Neurodevelopmental Disorders, TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::intervenciones quirúrgicas::procedimientos quirúrgicos cardiovasculares::procedimientos quirúrgicos cardíacos, Biomarkers

File Description: application/pdf

Access URL: https://pubmed.ncbi.nlm.nih.gov/38185573
https://hdl.handle.net/11351/11004
https://doaj.org/article/a3b7fb0df98249bd998b019fe0fb3cf3

Mutations in the spliceosomal gene SNW1 cause neurodevelopment disorders with microcephaly

Authors: Ji, Lei Yan, Jin Losurdo, Nicole et al.

Contributors: Ji, Lei Yan, Jin Losurdo, Nicole et al.

Source: Scientia

Subject Terms: Anomalies cromosòmiques, Malalties mentals - Aspectes genètics, Microcefàlia - Aspectes genètics, Drosòfila - Genètica, Cèl·lules mare embrionàries, DISEASES::Musculoskeletal Diseases::Musculoskeletal Abnormalities::Craniofacial Abnormalities::Microcephaly, PSYCHIATRY AND PSYCHOLOGY::Mental Disorders::Neurodevelopmental Disorders, Other subheadings::Other subheadings::Other subheadings::/genetics, ANATOMY::Cells::Cellular Structures::Intracellular Space::Cell Nucleus::Cell Nucleus Structures::Intranuclear Space::Spliceosomes, PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation, CHEMICALS AND DRUGS::Amino Acids, Peptides, and Proteins::Proteins::Arthropod Proteins::Insect Proteins::Drosophila Proteins, ANATOMY::Cells::Stem Cells::Pluripotent Stem Cells::Embryonic Stem Cells::Human Embryonic Stem Cells, ENFERMEDADES::enfermedades musculoesqueléticas::anormalidades musculoesqueléticas::anomalías craneofaciales::microcefalia, PSIQUIATRÍA Y PSICOLOGÍA::trastornos mentales::trastornos del desarrollo neurológico, Otros calificadores::Otros calificadores::Otros calificadores::/genética, ANATOMÍA::células::estructuras celulares::espacio intracelular::núcleo celular::estructuras del núcleo celular::espacio intranuclear::empalmosomas, FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación, COMPUESTOS QUÍMICOS Y DROGAS::aminoácidos, péptidos y proteínas::proteínas::proteínas de artrópodos::proteínas de insectos::proteínas de Drosophila, ANATOMÍA::células::células madre::células madre pluripotentes::células madre embrionarias::células madre embrionarias humanas

File Description: application/pdf

Relation: The Journal of Clinical Investigation;135(18); https://doi.org/10.1172/JCI186119; Ji L, Yan J, Losurdo NA, Wang H, Liu L, Li K, et al. Mutations in spliceosomal gene SNW1 cause neurodevelopment disorders with microcephaly. J Clin Invest. 2025 Jul;135(18):e186119.; https://hdl.handle.net/11351/13795

Availability: https://hdl.handle.net/11351/13795
https://doi.org/10.1172/JCI186119

Attenuated Clinical Forms of Tubulinopathies in Children and Adults: A Series of 24 Individuals

Authors: Durizot, Meghane BURGLEN, Lydie Garel, Catherine et al.

Contributors: Durizot, Meghane BURGLEN, Lydie Garel, Catherine et al.

Source: Scientia

Subject Terms: Trastorns del desenvolupament - Aspectes genètics, Fenotip, Tubulines, Discapacitat intel·lectual - Aspectes genètics, PHENOMENA AND PROCESSES::Genetic Phenomena::Phenotype, PSYCHIATRY AND PSYCHOLOGY::Mental Disorders::Neurodevelopmental Disorders, Other subheadings::Other subheadings::Other subheadings::/genetics, CHEMICALS AND DRUGS::Amino Acids, Peptides, and Proteins::Proteins::Amino Acids, and Proteins::Proteins::Nerve Tissue Proteins::Tubulin, DISEASES::Nervous System Diseases::Neurologic Manifestations::Neurobehavioral Manifestations::Intellectual Disability, FENÓMENOS Y PROCESOS::fenómenos genéticos::fenotipo, PSIQUIATRÍA Y PSICOLOGÍA::trastornos mentales::trastornos del desarrollo neurológico, Otros calificadores::Otros calificadores::Otros calificadores::/genética, COMPUESTOS QUÍMICOS Y DROGAS::aminoácidos, péptidos y proteínas::proteínas::aminoácidos, péptidos y proteínas::proteínas::proteínas del tejido nervioso::tubulina (proteína), ENFERMEDADES::enfermedades del sistema nervioso::manifestaciones neurológicas::manifestaciones neuroconductuales::discapacidad intelectual

File Description: application/pdf

Relation: Pediatric Neurology;170; https://doi.org/10.1016/j.pediatrneurol.2025.06.003; https://hdl.handle.net/11351/13534; 001526965400003

Availability: https://hdl.handle.net/11351/13534
https://doi.org/10.1016/j.pediatrneurol.2025.06.003

Clinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new cases

Authors: Juliá-Palacios, Natalia Muñoz-Pujol, Gerard Maroofian, Reza et al.

Contributors: Juliá-Palacios, Natalia Muñoz-Pujol, Gerard Maroofian, Reza et al.

Source: Scientia

Subject Terms: Mitocondris - Malalties, Isòtops radioactius en diagnòstic mèdic, Estrès oxidatiu, PSYCHIATRY AND PSYCHOLOGY::Mental Disorders::Neurodevelopmental Disorders, ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Diagnosis::Diagnostic Techniques and Procedures::Diagnostic Imaging::Neuroimaging, DISEASES::Nutritional and Metabolic Diseases::Metabolic Diseases::Mitochondrial Diseases, PSIQUIATRÍA Y PSICOLOGÍA::trastornos mentales::trastornos del desarrollo neurológico, TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::diagnóstico::técnicas y procedimientos diagnósticos::diagnóstico por imagen::neuroimágenes, ENFERMEDADES::enfermedades nutricionales y metabólicas::enfermedades metabólicas::enfermedades mitocondriales

File Description: application/pdf

Relation: Brain communications;7(5); https://doi.org/10.1093/braincomms/fcaf348; https://hdl.handle.net/11351/13822

Availability: https://hdl.handle.net/11351/13822
https://doi.org/10.1093/braincomms/fcaf348

Dynamics of affect modulation in neurodevelopmental disorders (DynAMoND) – study design of a prospective cohort study

Authors: Bayas, Maximilian Kockler, Tobias D. Ramos-Quiroga, Josep Antoni et al.

Contributors: Bayas, Maximilian Kockler, Tobias D. Ramos-Quiroga, Josep Antoni et al.

Source: Int J Bipolar Disord
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
International Journal of Bipolar Disorders, Vol 12, Iss 1, Pp 1-12 (2024)
International Journal of Bipolar Disorders, 12 (1), 44
International journal of bipolar disorders

Subject Terms: Neurophysiology and neuropsychology, Aplicacions mòbils, PSIQUIATRÍA Y PSICOLOGÍA::trastornos mentales::trastornos de la personalidad::trastorno de personalidad limítrofe, Bipolar disorder, PSIQUIATRÍA Y PSICOLOGÍA::trastornos mentales::trastornos del desarrollo neurológico, Digital phenotyping, Neurosciences. Biological psychiatry. Neuropsychiatry, Tractament dels trastorns del neurodesenvolupament, Study Protocol, 03 medical and health sciences, 0302 clinical medicine, Affective state, CIENCIA DE LA INFORMACIÓN::Ciencias de la información::metodologías computacionales::soporte lógico (informática)::aplicaciones en aparatos electrónicos portátiles, 0501 psychology and cognitive sciences, ddc:796, Trastorn bipolar, PSIQUIATRÍA Y PSICOLOGÍA::trastornos mentales::trastornos del desarrollo neurológico::trastornos conductuales disruptivos y déficit de atención::trastornos de déficit de atención con hiperactividad, PSIQUIATRÍA Y PSICOLOGÍA::trastornos mentales::trastorno bipolar y trastornos relacionados::trastorno bipolar, QP351-495, 05 social sciences, Emocions, Ambulatory assessment, Trastorn límit de la personalitat, PSYCHIATRY AND PSYCHOLOGY::Mental Disorders::Neurodevelopmental Disorders::Attention Deficit and Disruptive Behavior Disorders::Attention Deficit Disorder with Hyperactivity, INFORMATION SCIENCE::Information Science::Computing Methodologies::Software::Mobile Applications, PSYCHIATRY AND PSYCHOLOGY::Behavior and Behavior Mechanisms::Behavior::Behavioral Symptoms::Affective Symptoms, Athletic & outdoor sports & games, Attention-deficit/hyperactivity disorder, Trastorn per dèficit d'atenció amb hiperactivitat, Borderline personality disorder, Emotion dysregulation, Digital Psychiatry within Mood Disorders, PSYCHIATRY AND PSYCHOLOGY::Mental Disorders::Bipolar and Related Disorders::Bipolar Disorder, PSIQUIATRÍA Y PSICOLOGÍA::conducta y mecanismos de la conducta::conducta::síntomas conductuales::síntomas afectivos, PSYCHIATRY AND PSYCHOLOGY::Mental Disorders::Personality Disorders::Borderline Personality Disorder, PSYCHIATRY AND PSYCHOLOGY::Mental Disorders::Neurodevelopmental Disorders, RC321-571

File Description: application/pdf

Access URL: https://pubmed.ncbi.nlm.nih.gov/39733204
https://hdl.handle.net/11351/12541
https://doaj.org/article/9054ca076ada4bb3b6f5a425c3c8669b
https://publikationen.bibliothek.kit.edu/1000178508/156676605
https://doi.org/10.5445/IR/1000178508
https://publikationen.bibliothek.kit.edu/1000178508
https://repository.publisso.de/resource/frl:6522264
https://hdl.handle.net/11250/3186781

Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities

Authors: Elisa Calì Mohnish Suri Marcello Scala et al.

Contributors: Elisa Calì Mohnish Suri Marcello Scala et al.

Source: Genet Med
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
Genetics in Medicine, 25, 1, pp. 135-142

Subject Terms: Neurobiologia del desenvolupament, 0301 basic medicine, Protein-Arginine N-Methyltransferases, Medical Sciences, Autism, PSIQUIATRÍA Y PSICOLOGÍA::trastornos mentales::trastornos del desarrollo neurológico, Global developmental delay, Intellectual disability, ENFERMEDADES::enfermedades del sistema nervioso::manifestaciones neurológicas::manifestaciones neuroconductuales::discapacidad intelectual, Pediatrics, Gene, Craniofacial abnormality, Craniofacial, Otros calificadores::Otros calificadores::Otros calificadores::/genética, Medical Specialties, Medicine and Health Sciences, Psychology, Syndromic neurodevelopmental disorder, Autism spectrum disorder, ENFERMEDADES::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::enanismo, Psychiatry, 2. Zero hunger, 0303 health sciences, Discapacitat intel·lectual - Aspectes genètics, Mental and Social Health, Brief Report, Brachydactyly, Chromatinopathy, Life Sciences, Protein Arginine Methyltransferases, 3. Good health, FOS: Psychology, Phenotype, Neurology, Medicine, Mendelian disorders of the epigenetic machinery, PRMT7, DISEASES::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Dwarfism, Other subheadings::Other subheadings::Other subheadings::/genetics, Epigenetic Modifications and Their Functional Implications, Radboud University Medical Center, Dwarfism, Hypotonia, 03 medical and health sciences, Protein Arginine Methylation in Mammals, Neurodevelopmental disorder, DISEASES::Nervous System Diseases::Neurologic Manifestations::Neurobehavioral Manifestations::Intellectual Disability, Intellectual Disability, Biochemistry, Genetics and Molecular Biology, Internal Medicine, Genetics, Humans, Obesity, Molecular Biology, Biology, Syndromic obesity, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience, Nanisme, Musculoskeletal Abnormalities, Short stature, Neurodevelopmental Disorders, FOS: Biological sciences, PSYCHIATRY AND PSYCHOLOGY::Mental Disorders::Neurodevelopmental Disorders

File Description: application/pdf; image/jpeg; application/vnd.openxmlformats-officedocument.spreadsheetml.sheet; text

Access URL: https://pubmed.ncbi.nlm.nih.gov/36399134
https://hdl.handle.net/11351/9325
https://repository.ubn.ru.nl//bitstream/handle/2066/290796/290796.pdf
https://hdl.handle.net/2066/290796
https://hdl.handle.net/1887/3753511
https://discovery-pp.ucl.ac.uk/id/eprint/10160152/
https://eprints.soton.ac.uk/472172/

DNA methylation episignature, extension of the clinical features, and comparative epigenomic profiling of Hao-Fountain syndrome caused by variants in USP7

Authors: Karimi, Karim Lauffer, Peter McConkey, Haley et al.

Contributors: Karimi, Karim Lauffer, Peter McConkey, Haley et al.

Source: Scientia

Subject Terms: Marcadors bioquímics, Trastorns del desenvolupament - Aspectes genètics, ADN - Metilació, PSYCHIATRY AND PSYCHOLOGY::Mental Disorders::Neurodevelopmental Disorders, Other subheadings::Other subheadings::Other subheadings::/genetics, PHENOMENA AND PROCESSES::Chemical Phenomena::Biochemical Phenomena::Alkylation::Methylation::DNA Methylation, CHEMICALS AND DRUGS::Biological Factors::Biomarkers, PSIQUIATRÍA Y PSICOLOGÍA::trastornos mentales::trastornos del desarrollo neurológico, Otros calificadores::Otros calificadores::Otros calificadores::/genética, FENÓMENOS Y PROCESOS::fenómenos químicos::fenómenos bioquímicos::alquilación::metilación::metilación del ADN, COMPUESTOS QUÍMICOS Y DROGAS::factores biológicos::biomarcadores

File Description: application/pdf

Relation: Genetics in Medicine;26(3); https://doi.org/10.1016/j.gim.2023.101050; https://hdl.handle.net/11351/10951

Availability: https://hdl.handle.net/11351/10951
https://doi.org/10.1016/j.gim.2023.101050

BiallelicPI4KAvariants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy

Authors: Lisa Pavinato Agustí Rodríguez-Palmero Heidi L. Rehm et al.

Contributors: Lisa Pavinato Agustí Rodríguez-Palmero Heidi L. Rehm et al.

Source: Brain
Articles publicats en revistes (Ciències Clíniques)
Dipòsit Digital de la UB
instname
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
Institut de Recerca Germans Trias i Pujol (IGTP)
Universidad de Barcelona
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona

Subject Terms: Adult, Male, 0301 basic medicine, DISCIPLINAS Y OCUPACIONES::profesiones sanitarias::medicina::pediatría, Mielina - Malalties - Aspectes genètics, Other subheadings::Other subheadings::Other subheadings::/genetics, spastic paraplegia, Adolescent, PSIQUIATRÍA Y PSICOLOGÍA::trastornos mentales::trastornos del desarrollo neurológico, inborn errors of metabolism, Inborn errors of metabolism, hypomyelinating leukodystrophy, DISCIPLINES AND OCCUPATIONS::Health Occupations::Medicine::Pediatrics, DISEASES::Nervous System Diseases::Central Nervous System Diseases::Brain Diseases::Brain Diseases, Metabolic::Brain Diseases, Metabolic, Inborn::Hereditary Central Nervous System Demyelinating Diseases, Minor Histocompatibility Antigens, 03 medical and health sciences, Otros calificadores::Otros calificadores::Otros calificadores::/genética, Malalties hereditàries, PI4KA, phosphoinositol, Humans, Child, Alleles, ENFERMEDADES::enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades cerebrales::enfermedades cerebrales metabólicas::enfermedades cerebrales metabólicas congénitas::enfermedades desmielinizantes hereditarias del sistema nervioso central, 0303 health sciences, Phosphoinositol, Pediatria, Malalties del sistema nerviós central, Spastic paraplegia, Infant, Newborn, Genetic Variation, Infant, Original Articles, Sistema nerviós - Malalties - Aspectes genètics, Pedigree, [SDV] Life Sciences [q-bio], Hereditary Central Nervous System Demyelinating Diseases, Phosphotransferases (Alcohol Group Acceptor), Neurodevelopmental Disorders, Hypomyelinating leukodystrophy, Child, Preschool, Leukocytes, Mononuclear, Female, Genetic disorders, PSYCHIATRY AND PSYCHOLOGY::Mental Disorders::Neurodevelopmental Disorders, Central nervous system diseases

File Description: application/pdf

Access URL: https://academic.oup.com/brain/article-pdf/144/9/2659/40880202/awab124.pdf
https://pubmed.ncbi.nlm.nih.gov/34415322
https://hdl.handle.net/2445/182762
https://fundanet.igtp.cat/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=1769
http://hdl.handle.net/2445/182762
https://hdl.handle.net/11351/7675
https://hdl.handle.net/20.500.12530/57182
https://academic.oup.com/brain/article/144/9/2659/6355367
https://pubmed.ncbi.nlm.nih.gov/34415322/
https://academic.oup.com/brain/advance-article-pdf/doi/10.1093/brain/awab124/39835313/awab124.pdf
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8557332
https://www.ncbi.nlm.nih.gov/pubmed/34415322
https://iris.unito.it/handle/2318/1808626
https://hdl.handle.net/2318/1808626
https://doi.org/10.1093/brain/awab124
https://academic.oup.com/brain/advance-article/doi/10.1093/brain/awab124/6355367

Muscarinic acetylcholine receptor M1 mutations causing neurodevelopmental disorder and epilepsy

Authors: Anna Marcé‐Grau Xabier Elorza‐Vidal Carla Pérez‐Rius et al.

Contributors: Anna Marcé‐Grau Xabier Elorza‐Vidal Carla Pérez‐Rius et al.

Source: Dipòsit Digital de la UB
Universidad de Barcelona
Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))
instname
HUMAN MUTATION
r-I3PT. Repositorio Institucional Producción Científica del Institut d'Investigació i Innovació Parc Taulí
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut

Subject Terms: 0301 basic medicine, Other subheadings::Other subheadings::Other subheadings::/genetics, Autism Spectrum Disorder, PSIQUIATRÍA Y PSICOLOGÍA::trastornos mentales::trastornos del desarrollo neurológico, TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::técnicas de investigación::técnicas genéticas::análisis de secuencias::análisis de secuencias de ADN::análisis de mutaciones del ADN, 03 medical and health sciences, Neurologia pediàtrica - Malalties, Otros calificadores::Otros calificadores::Otros calificadores::/genética, Intellectual Disability, epileptic encephalopathy, muscarinic receptor, whole-exome sequencing, Humans, Seqüència de nucleòtids, 0303 health sciences, Epilepsy, ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Investigative Techniques::Genetic Techniques::Sequence Analysis::Sequence Analysis, DNA::DNA Mutational Analysis, Mutació (Biologia), Receptor, Muscarinic M1, Mutation (Biology), Receptors, Muscarinic, 3. Good health, Epilèpsia, Neurodevelopmental Disorders, Mutation, Female, PSYCHIATRY AND PSYCHOLOGY::Mental Disorders::Neurodevelopmental Disorders, Genètica del desenvolupament

File Description: application/pdf

Access URL: https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/humu.24252
https://pubmed.ncbi.nlm.nih.gov/34212451
http://hdl.handle.net/2445/179340
https://hdl.handle.net/2445/179340
https://i3pt.portalinvestigacion.com/publicaciones/1715
https://hdl.handle.net/11351/6925
https://www.ncbi.nlm.nih.gov/pubmed/34212451
https://europepmc.org/article/MED/34212451
https://onlinelibrary.wiley.com/doi/10.1002/humu.24252
https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24252
http://diposit.ub.edu/dspace/bitstream/2445/179340/1/humu.24252.pdf
https://www.scilit.net/article/e9312bc7ffd0b96eb55a07bf7146b8e8

The phenotypic presentation of adult individuals with SLC6A1-related neurodevelopmental disorders

Authors: Katrine M. Johannesen Jimmi Nielsen Anne Sabers et al.

Contributors: Katrine M. Johannesen Jimmi Nielsen Anne Sabers et al.

Source: Front Neurosci
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
Frontiers in Neuroscience, Vol 17 (2023)
Johannesen, K M, Nielsen, J, Sabers, A, Isidor, B, Kattentidt-Mouravieva, A A, Zieglgänsberger, D, Heidlebaugh, A R, Oetjens, K F, Vidal, A A, Christensen, J, Tiller, J, Freed, A N, Møller, R S & Rubboli, G 2023, 'The phenotypic presentation of adult individuals with SLC6A1-related neurodevelopmental disorders', Frontiers in Neuroscience, vol. 17, 1216653. https://doi.org/10.3389/fnins.2023.1216653
Johannesen, K M, Nielsen, J, Sabers, A, Isidor, B, Kattentidt-Mouravieva, A A, Zieglgänsberger, D, Heidlebaugh, A R, Oetjens, K F, Vidal, A A, Christensen, J, Tiller, J, Freed, A N, Møller, R S & Rubboli, G 2023, ' The phenotypic presentation of adult individuals with SLC6A1-related neurodevelopmental disorders ', Frontiers in Neuroscience, vol. 17, 1216653 . https://doi.org/10.3389/fnins.2023.1216653

Subject Terms: 0301 basic medicine, SLC6A1, Other subheadings::Other subheadings::Other subheadings::/genetics, neurodevelopmental disorders, PSIQUIATRÍA Y PSICOLOGÍA::trastornos mentales::trastornos del desarrollo neurológico, Neurosciences. Biological psychiatry. Neuropsychiatry, Epilèpsia - Aspectes genètics, ENFERMEDADES::enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades cerebrales::epilepsia, DISEASES::Nervous System Diseases::Central Nervous System Diseases::Brain Diseases::Epilepsy, 3. Good health, Fenotip, 03 medical and health sciences, 0302 clinical medicine, intellectual disability, Otros calificadores::Otros calificadores::Otros calificadores::/genética, FENÓMENOS Y PROCESOS::fenómenos genéticos::fenotipo, PHENOMENA AND PROCESSES::Genetic Phenomena::Phenotype, epilepsy, epilepsy genetics, Trastorns del desenvolupament - Aspectes genètics, PSYCHIATRY AND PSYCHOLOGY::Mental Disorders::Neurodevelopmental Disorders, RC321-571, Neuroscience

File Description: application/pdf

Access URL: https://pubmed.ncbi.nlm.nih.gov/37662110
https://hdl.handle.net/11351/10289
https://doaj.org/article/9b772a0cf1ac4bf7a6f55e11c80726d3
https://pure.au.dk/ws/files/375799276/fnins-17-1216653.pdf
https://curis.ku.dk/ws/files/388330440/fnins_17_1216653.pdf
https://portal.findresearcher.sdu.dk/da/publications/c77fdb03-926f-4fa6-bb09-94d6e329947f
https://doi.org/10.3389/fnins.2023.1216653
https://pure.au.dk/ws/files/375799276/fnins-17-1216653.pdf
https://pure.au.dk/portal/en/publications/ed18f549-475d-4a51-89d0-849a952acfff
https://doi.org/10.3389/fnins.2023.1216653
http://www.scopus.com/inward/record.url?scp=85169606085&partnerID=8YFLogxK

Intrafamilial variability in SLC6A1-related neurodevelopmental disorders

Authors: Benedetta Kassabian Christina Dühring Fenger Marjolaine Willems et al.

Contributors: Benedetta Kassabian Christina Dühring Fenger Marjolaine Willems et al.

Source: Front Neurosci
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
Frontiers in Neuroscience, Vol 17 (2023)

Subject Terms: 0301 basic medicine, SLC6A1, intrafamilial variability, Other subheadings::Other subheadings::Other subheadings::/genetics, Intellectual disability, PSIQUIATRÍA Y PSICOLOGÍA::trastornos mentales::trastornos del desarrollo neurológico, Neurosciences. Biological psychiatry. Neuropsychiatry, Neurology and psychiatry, 03 medical and health sciences, 0302 clinical medicine, FENÓMENOS Y PROCESOS::fenómenos genéticos::fenotipo, Otros calificadores::Otros calificadores::Otros calificadores::/genética, PHENOMENA AND PROCESSES::Genetic Phenomena::Phenotype, 10. No inequality, Epilepsy, neurodevelopmental disorders, Neurodevelopmental disorders, Neurosciences, Intrafamilial variability, 3. Good health, [SDV] Life Sciences [q-bio], Fenotip, intellectual disability, epilepsy, Trastorns del desenvolupament - Aspectes genètics, PSYCHIATRY AND PSYCHOLOGY::Mental Disorders::Neurodevelopmental Disorders, RC321-571, Neuroscience

File Description: application/pdf

Access URL: https://pubmed.ncbi.nlm.nih.gov/37502687
https://hdl.handle.net/11351/10152
https://doaj.org/article/b5e06920b7a34b5dbc7784d184b2df59
https://pure.eur.nl/en/publications/4cc6b5c5-fecb-437c-bdfe-d05108596f11
https://doi.org/10.3389/fnins.2023.1219262
http://hdl.handle.net/10138/563949
https://portal.findresearcher.sdu.dk/da/publications/180a20d4-8a60-43dc-9d70-7dd9dc23e579
https://doi.org/10.3389/fnins.2023.1219262

Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders

Authors: Carolina Gracia-Diaz Yijing Zhou Qian Yang et al.

Contributors: Carolina Gracia-Diaz Yijing Zhou Qian Yang et al.

Source: Nat Commun
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
Nature Communications, Vol 14, Iss 1, Pp 1-18 (2023)
Gracia-Diaz, Carolina; Zhou, Yijing; Yang, Qian; Maroofian, Reza; Espana-Bonilla, Paula; Lee, Chul-Hwan; Zhang, Shuo; Padilla, Natàlia; Fueyo, Raquel; Waxman, Elisa A; Lei, Sunyimeng; Otrimski, Garrett; Li, Dong; Sheppard, Sarah E; Mark, Paul; Harr, Margaret H; Hakonarson, Hakon; Rodan, Lance; Jackson, Adam; Vasudevan, Pradeep; ... (2023). Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders. Nature Communications, 14(1), p. 4109. Springer Nature 10.1038/s41467-023-39645-5 <http://dx.doi.org/10.1038/s41467-023-39645-5>
Genomic England Research Consortium 2023, 'Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders', Nature Communications, vol. 14, no. 1, 4109. https://doi.org/10.1038/s41467-023-39645-5
Nature communications

Subject Terms: Other subheadings::Other subheadings::Other subheadings::/genetics, Science, Neurogenesis, Cell Differentiation/genetics, Polycomb Repressive Complex 2/genetics, PSIQUIATRÍA Y PSICOLOGÍA::trastornos mentales::trastornos del desarrollo neurológico, 610 Medicine & health, Chick Embryo, Neurodevelopmental Disorders/genetics, Article, Otros calificadores::Otros calificadores::Otros calificadores::/genética, Animals, Humans, Cell Nucleus, Chromatin/genetics, FENÓMENOS Y PROCESOS::fenómenos fisiológicos celulares::diferenciación celular::neurogénesis, Polycomb Repressive Complex 2, Cell Differentiation, Methyltransferases, Autism spectrum disorders, Chromatin, 3. Good health, PHENOMENA AND PROCESSES::Cell Physiological Phenomena::Cell Differentiation::Neurogenesis, HISTONE METHYLTRANSFERASE, READ ALIGNMENT, MOUSE MODEL, LYSINE 27, MUTATIONS, GENES, PRC2, METHYLATION, OVERGROWTH, INHIBITION, Neurodevelopmental Disorders, Diferenciació cel·lular, Neurogenesis/genetics, Trastorns del desenvolupament - Aspectes genètics, PSYCHIATRY AND PSYCHOLOGY::Mental Disorders::Neurodevelopmental Disorders

File Description: application/pdf; application/vnd.openxmlformats-officedocument.spreadsheetml.sheet

Access URL: https://pubmed.ncbi.nlm.nih.gov/37433783
https://hdl.handle.net/11351/10115
https://doaj.org/article/78105606e072432f9749da08dbbd20b7
https://research.manchester.ac.uk/en/publications/659cb4b1-d00a-40e1-989b-77282ac71c13
https://doi.org/10.1038/s41467-023-39645-5
https://boris.unibe.ch/184706/
https://www.nature.com/articles/s41467-023-39645-5.pdf
https://doi.org/10.1038/s41467-023-39645-5
https://hdl.handle.net/11570/3270568
https://discovery-pp.ucl.ac.uk/id/eprint/10173395/

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice

Authors: Sheppard, Sarah E. Bryant, Laura Wickramasekara, Rochelle N. et al.

Contributors: Sheppard, Sarah E. Bryant, Laura Wickramasekara, Rochelle N. et al.

Source: Sci Adv
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
Science Advances, 9, 10, pp. eade1463
Sheppard, Sarah E; Bryant, Laura; Wickramasekara, Rochelle N; Vaccaro, Courtney; Robertson, Brynn; Hallgren, Jodi; Hulen, Jason; Watson, Cynthia J; Faundes, Victor; Duffourd, Yannis; Lee, Pearl; Simon, M Celeste; de la Cruz, Xavier; Padilla, Natália; Flores-Mendez, Marco; Akizu, Naiara; Smiler, Jacqueline; Pellegrino Da Silva, Renata; Li, Dong; March, Michael; ... (2023). Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice. Science Advances, 9(10), eade1463. American Association for the Advancement of Science 10.1126/sciadv.ade1463 <http://dx.doi.org/10.1126/sciadv.ade1463>
Sheppard, S E, Bryant, L, Wickramasekara, R N, Vaccaro, C, Robertson, B, Hallgren, J, Hulen, J, Watson, C J, Faundes, V, Duffourd, Y, Lee, P, Simon, M C, de la Cruz, X, Padilla, N, Flores-Mendez, M, Akizu, N, Smiler, J, Pellegrino Da Silva, R, Li, D, March, M, Diaz-Rosado, A, Peixoto de Barcelos, I, Choa, Z X, Dubourg, C, Journel, H, Demurger, F, Mulhern, M, Akman, C, Lippa, N, Andrews, M, Baldridge, D, Constantino, J, van Haeringen, A, Snoeck-Streef, I, Chow, P, Hing, A, Graham, J M, Au, M, Faivre, L, Mao, R, Palumbos, J, Viskochil, D, Gahl, W, Tifft, C, Macnamara, E, Hauser, N, Miller, R, Maffeo, J, Afenjar, A, Doummar, D, Keren, B, Arn, P, Macklin-Mantia, S, Meerschaut, I, Callewaert, B, Reis, A, Zweier, C, Brewer, C, Saggar, A, Smeland, M F, Kumar, A, Elmslie, F, Deshpande, C, Nizon, M, Cogne, B, van Ierland, Y, Wilke, M, van Slegtenhorst, M, Koudijs, S, Dredge, D, Pier, D, Wortmann, S, Kamsteeg, E-J, Koch, J, Haynes, D, Pollack, L, Titheradge, H, Ranguin, K, Denommé-Pichon, A-S, Weber, S, Pérez de la Fuente, R, Sánchez Del Pozo, J, Lezana Rosales, J M, Joset, P, Steindl, K, Rauch, A, Mei, D, Mari, F, Guerrini, R, Lespinasse, J, Tran Mau-Them, F, Philippe, C, Dauriat, B, Raymond, L, Moutton, S, Cueto-González, A M, Tan, T Y, Mignot, C, Grotto, S, Renaldo, F, Drivas, T G, Hennessy, L, Raper, A, Parenti, I, Kaiser, F J, Kuechler, A, Busk, Ø L, Islam, L, Siedlik, J A, Henderson, L B, Juusola, J, Person, R, Schnur, R E, Vitobello, A, Banka, S, Bhoj, E J & Stessman, H A F 2023, 'Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice', Science Advances, vol. 9, no. 10, eade1463. https://doi.org/10.1126/sciadv.ade1463
SCIENCE ADVANCES

Subject Terms: 0301 basic medicine, PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation::Allelic Imbalance::Loss of Heterozygosity::Haploinsufficiency, Radboudumc 6: Metabolic Disorders Paediatrics, Medizin, PSIQUIATRÍA Y PSICOLOGÍA::trastornos mentales::trastornos del desarrollo neurológico, [SDV.GEN] Life Sciences [q-bio]/Genetics, Haploinsufficiency, Neurodevelopmental Disorders/genetics, CHEMICALS AND DRUGS::Enzymes and Coenzymes::Enzymes::Transferases::One-Carbon Group Transferases::Methyltransferases, Methyltransferases/genetics, Mice, Otros calificadores::Otros calificadores::Otros calificadores::/genética, Medicine and Health Sciences, TOOL, Mice, Knockout, 0303 health sciences, Radboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience, HISTONE, 3. Good health, GENOME, Fenotip, Phenotype, Histone Methyltransferases, Megalencephaly, EXPRESSION, Metiltransferases, mice, Other subheadings::Other subheadings::Other subheadings::/genetics, Knockout, Radboud University Medical Center, 610 Medicine & health, 03 medical and health sciences, Animals, Humans, AUTISM, General, IDENTIFICATION, LANDSCAPE, MUTATIONS, ICTS (Institute of Clinical and Translational Sciences), Biology and Life Sciences, Methyltransferases, GENE, Sistema nerviós - Malalties - Aspectes genètics, haploinsufficiency, Neurodevelopmental Disorders, COMPUESTOS QUÍMICOS Y DROGAS::enzimas y coenzimas::enzimas::transferasas::transferasas de grupos de un solo carbono::metiltransferasas, Biomedicine and Life Sciences, FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación::desequilibrio alélico::pérdida de heterocigosidad::haploinsuficiencia, PSYCHIATRY AND PSYCHOLOGY::Mental Disorders::Neurodevelopmental Disorders

File Description: application/pdf

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https://research.manchester.ac.uk/en/publications/064bf450-6a7b-4d0d-8439-cb8af9828bf7
https://doi.org/10.1126/sciadv.ade1463
https://dspace.library.uu.nl/handle/1874/458814
https://repository.ubn.ru.nl//bitstream/handle/2066/290785/290785.pdf
https://repository.ubn.ru.nl/handle/2066/290785
https://hal.science/hal-04122721v1/document
https://hal.science/hal-04122721v1
https://doi.org/10.1126/sciadv.ade1463
https://boris.unibe.ch/179893/
https://research.manchester.ac.uk/en/publications/064bf450-6a7b-4d0d-8439-cb8af9828bf7
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https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10005179/
https://biblio.vub.ac.be/vubir/mechanism-of-kmt5b-haploinsufficiency-in-neurodevelopment-in-humans-and-mice(db00e3f6-bce6-4545-9beb-19850eb66732).html
https://biblio.ugent.be/publication/01JQ9CA4G9Q21SF8963QPEEFSX
http://hdl.handle.net/1854/LU-01JQ9CA4G9Q21SF8963QPEEFSX
http://doi.org/10.1126/sciadv.ade1463
https://biblio.ugent.be/publication/01JQ9CA4G9Q21SF8963QPEEFSX/file/01JQBXNA85BMDXTD5EN9NXWJS5
https://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&origin=inward&scp=85150009253
https://www.ncbi.nlm.nih.gov/pubmed/36897941
https://doi.org/10.1126/sciadv.ade1463

Heart Disease Characterization and Myocardial Strain Analysis in Patients with PACS1 Neurodevelopmental Disorder

Authors: Latorre-Pellicer, Ana Trujillano Lidón, Laura del Rincón de la Villa, Julia et al.

Contributors: Latorre-Pellicer, Ana Trujillano Lidón, Laura del Rincón de la Villa, Julia et al.

Source: Scientia

Subject Terms: Malalties mentals, Cor - Malalties, Hipertensió, DISEASES::Cardiovascular Diseases::Heart Diseases, PSYCHIATRY AND PSYCHOLOGY::Mental Disorders::Neurodevelopmental Disorders, DISEASES::Cardiovascular Diseases::Vascular Diseases::Hypertension, ENFERMEDADES::enfermedades cardiovasculares::enfermedades cardíacas, PSIQUIATRÍA Y PSICOLOGÍA::trastornos mentales::trastornos del desarrollo neurológico, ENFERMEDADES::enfermedades cardiovasculares::enfermedades vasculares::hipertensión

File Description: application/pdf

Relation: Journal of Clinical Medicine;12(12); https://doi.org/10.3390/jcm12124052; https://hdl.handle.net/11351/9941

Availability: https://hdl.handle.net/11351/9941
https://doi.org/10.3390/jcm12124052

Functional Insight into and Refinement of the Genomic Boundaries of the JARID2-Neurodevelopmental Disorder Episignature

Authors: van der Laan, Liselot Rooney, Kathleen Haghshenas, Sadegheh et al.

Contributors: van der Laan, Liselot Rooney, Kathleen Haghshenas, Sadegheh et al.

Source: Scientia

Subject Terms: Genòmica, Discapacitat intel·lectual - Aspectes genètics, Trastorns del desenvolupament - Aspectes genètics, DISCIPLINES AND OCCUPATIONS::Natural Science Disciplines::Biological Science Disciplines::Biology::Computational Biology::Genomics::Epigenomics, PSYCHIATRY AND PSYCHOLOGY::Mental Disorders::Neurodevelopmental Disorders, Other subheadings::Other subheadings::Other subheadings::/genetics, DISCIPLINAS Y OCUPACIONES::disciplinas de las ciencias naturales::disciplinas de las ciencias biológicas::biología::biología computacional::genómica::epigenómica, PSIQUIATRÍA Y PSICOLOGÍA::trastornos mentales::trastornos del desarrollo neurológico, Otros calificadores::Otros calificadores::Otros calificadores::/genética

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Relation: International Journal of Molecular Sciences;24(18); https://doi.org/10.3390/ijms241814240; https://hdl.handle.net/11351/10403

Availability: https://hdl.handle.net/11351/10403
https://doi.org/10.3390/ijms241814240