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Results: 2267

Delirium after deep brain stimulation for Parkinson's disease: a meta-analysis of incidence and risk factors.
Published in:
Neurosurgical Review, 2025, v. 48, n. 1, p. 1, doi. 10.1007/s10143-025-03206-9
By:
- Yousef, Obai;
- Abouelmagd, Moaz Elsayed;
- Abbas, Abdallah;
- Elrosasy, Amr;
- Shbani, Abdulrahman;
- Raslan, Ahmed M.
Publication type:
Article
Brain inflammation co-localizes highly with tau in mild cognitive impairment due to early-onset Alzheimer's disease.
Published in:
Brain: A Journal of Neurology, 2025, v. 148, n. 1, p. 119, doi. 10.1093/brain/awae234
By:
- Appleton, Johanna;
- Finn, Quentin;
- Zanotti-Fregonara, Paolo;
- Yu, Meixiang;
- Faridar, Alireza;
- Nakawah, Mohammad O;
- Zarate, Carlos;
- Carrillo, Maria C;
- Dickerson, Bradford C;
- Rabinovici, Gil D;
- Apostolova, Liana G;
- Masdeu, Joseph C;
- Pascual, Belen
Publication type:
Article
Late-onset temporal lobe epilepsy: insights from brain atrophy and Alzheimer's disease biomarkers.
Published in:
Brain: A Journal of Neurology, 2025, v. 148, n. 1, p. 185, doi. 10.1093/brain/awae207
By:
- Ballerini, Alice;
- Biagioli, Niccolò;
- Carbone, Chiara;
- Chiari, Annalisa;
- Tondelli, Manuela;
- Vinceti, Giulia;
- Bedin, Roberta;
- Malagoli, Marcella;
- Genovese, Maurilio;
- Scolastico, Simona;
- Giovannini, Giada;
- Pugnaghi, Matteo;
- Orlandi, Niccolò;
- Lemieux, Louis;
- Meletti, Stefano;
- Zamboni, Giovanna;
- Vaudano, Anna Elisabetta
Publication type:
Article
Inhaled xenon modulates microglia and ameliorates disease in mouse models of amyloidosis and tauopathy.
Published in:
Science Translational Medicine, 2025, v. 17, n. 781, p. 1, doi. 10.1126/scitranslmed.adk3690
By:
- Brandao, Wesley;
- Jain, Nimansha;
- Yin, Zhuoran;
- Kleemann, Kilian L.;
- Carpenter, Madison;
- Bao, Xin;
- Serrano, Javier R.;
- Tycksen, Eric;
- Durao, Ana;
- Barry, Jen-Li;
- Baufeld, Caroline;
- Guneykaya, Dilansu;
- Zhang, Xiaoming;
- Litvinchuk, Alexandra;
- Jiang, Hong;
- Rosenzweig, Neta;
- Pitts, Kristen M.;
- Aronchik, Michael;
- Yahya, Taha;
- Cao, Tian
Publication type:
Article
Marriage is associated with decreased lesion volumes and less brain atrophy in people with multiple sclerosis.
Published in:
Journal of Neurology, 2025, v. 272, n. 2, p. 1, doi. 10.1007/s00415-024-12823-1
By:
- Balshi, Alexandra;
- Dempsey, John;
- Kumbar, Sachin;
- Leunberger, Grace;
- Baber, Ursela;
- Sloane, Jacob A.
Publication type:
Article
Clinical characteristics and detection of MYB-QKI fusions in patients with angiocentric glioma.
Published in:
Neurological Sciences, 2025, v. 46, n. 1, p. 427, doi. 10.1007/s10072-024-07721-3
By:
- Li, Tiemin;
- Aihemaitiniyazi, Adilijiang;
- Zhang, Huawei;
- Wei, Da;
- Hu, Yue;
- Guan, Yuguang;
- Zhou, Jian;
- Qi, Xueling;
- Wang, Mengyang;
- Wu, Bin;
- Zhu, Mingwang;
- Zhang, Linpeng;
- Luan, Guoming;
- Liu, Changqing
Publication type:
Article
Integrating Biomarkers From Virtual Reality and Magnetic Resonance Imaging for the Early Detection of Mild Cognitive Impairment Using a Multimodal Learning Approach: Validation Study.
Published in:
Journal of Medical Internet Research, 2024, v. 26, p. 1, doi. 10.2196/54538
By:
- Park, Bogyeom;
- Kim, Yuwon;
- Park, Jinseok;
- Choi, Hojin;
- Kim, Seong-Eun;
- Ryu, Hokyoung;
- Seo, Kyoungwon
Publication type:
Article
Catalpol promotes hippocampal neurogenesis and synaptogenesis in rats after multiple cerebral infarctions by mitochondrial regulation: involvement of the Shh signaling pathway.
Published in:
Frontiers in Pharmacology, 2025, p. 1, doi. 10.3389/fphar.2024.1461279
By:
- Huang, Zishan;
- Li, Feng;
- Zheng, Xiaoyu;
- Zheng, Jiarui;
- Dong, Yilei;
- Ding, Zhao;
- Gou, Huanyu;
- Yao, Mingjiang;
- Liu, Jianxun
Publication type:
Article
Effects of Route Complexity and Lighting on Route Following in Alzheimer's Disease and Posterior Cortical Atrophy.
Published in:
Brain Sciences (2076-3425), 2024, v. 14, n. 12, p. 1217, doi. 10.3390/brainsci14121217
By:
- Carton, Amelia M.;
- Frost, Chris;
- Poole, Teresa;
- Yang, Biao;
- McCarthy, Ian D.;
- Suzuki, Tatsuto;
- Holloway, Catherine;
- Serougne, Robin;
- Boampong, Derrick;
- Sullivan, Mary Pat;
- Tyler, Nick;
- Crutch, Sebastian;
- Yong, Keir X. X.
Publication type:
Article
Personalized Dose Selection for Treatment of Patients with Neuropsychiatric Disorders Using tDCS.
Published in:
Brain Sciences (2076-3425), 2024, v. 14, n. 12, p. 1162, doi. 10.3390/brainsci14121162
By:
- Bhattacharjee, Sagarika;
- Kashyap, Rajan;
- Sreeraj, Vanteemar S.;
- Sivakumar, Palanimuthu T.;
- Venkatasubramanian, Ganesan;
- Desmond, John E.;
- Chen, S. H. Annabel;
- Sathyaprabha, T. N.;
- Udupa, Kaviraja
Publication type:
Article
Higher skeletal muscle mitochondrial oxidative capacity is associated with preserved brain structure up to over a decade.
Published in:
Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-55009-z
By:
- Tian, Qu;
- Greig, Erin E.;
- Davatzikos, Christos;
- Landman, Bennett A.;
- Resnick, Susan M.;
- Ferrucci, Luigi
Publication type:
Article
Diastolic blood pressure is associated with brain atrophy in hemodialysis patients: A single center case–control study.
Published in:
Therapeutic Apheresis & Dialysis, 2022, v. 26, n. 1, p. 94, doi. 10.1111/1744-9987.13647
By:
- Cohen‐Hagai, Keren;
- Fanadka, Feda;
- Grumberg, Tania;
- Topaz, Guy;
- Nacasch, Naomi;
- Greenberg, Meidad;
- Zitman‐Gal, Tali;
- Benchetrit, Sydney
Publication type:
Article
Image-based stroke rat brain atrophy volume and infarct volume computation.
Published in:
Journal of Supercomputing, 2020, v. 76, n. 12, p. 10090, doi. 10.1007/s11227-020-03224-y
By:
- Chan, Yung-Kuan;
- Hong, Chun-Fu;
- Tsai, Meng-Hsiun;
- Chang, Ya-Lan;
- Sun, Ping-Hsuan
Publication type:
Article
Multimodal imaging in a family with Cockayne syndrome with a novel pathogenic mutation in the ERCC8 gene, and significant phenotypic variability.
Published in:
Documenta Ophthalmologica, 2020, v. 141, n. 1, p. 89, doi. 10.1007/s10633-020-09754-3
By:
- Cho, Soungmin;
- Traboulsi, Elias I.;
- Chiang, John;
- Sierpina, David
Publication type:
Article
Exploring motor and visual imagery in Amyotrophic Lateral Sclerosis.
Published in:
Experimental Brain Research, 2013, v. 226, n. 4, p. 537, doi. 10.1007/s00221-013-3465-9
By:
- Fiori, F.;
- Sedda, A.;
- Ferrè, E.;
- Toraldo, A.;
- Querzola, M.;
- Pasotti, F.;
- Ovadia, D.;
- Piroddi, C.;
- Dell'Aquila, R.;
- Lunetta, C.;
- Corbo, M.;
- Bottini, G.
Publication type:
Article
Deficits of cortical oculomotor mechanisms in cerebellar atrophy patients.
Published in:
Experimental Brain Research, 2013, v. 224, n. 4, p. 541, doi. 10.1007/s00221-012-3332-0
By:
- Filippopulos, F.;
- Eggert, T.;
- Straube, A.
Publication type:
Article
Overview of age‐related changes in psychomotor and cognitive functions in a prosimian primate, the gray mouse lemur (Microcebus murinus): Recent advances in risk factors and antiaging interventions.
Published in:
American Journal of Primatology, 2021, v. 83, n. 11, p. 1, doi. 10.1002/ajp.23337
By:
- Chaudron, Yohann;
- Pifferi, Fabien;
- Aujard, Fabienne
Publication type:
Article
Mouse model for deficiency of methionine synthase reductase exhibits short-term memory impairment and disturbances in brain choline metabolism.
Published in:
Biochemical Journal, 2014, v. 461, n. 2, p. 205, doi. 10.1042/BJ20131568
By:
- JADAVJI, Nafisa M.;
- BAHOUS, Renata H.;
- DENG, Liyuan;
- MALYSHEVA, Olga;
- GRAND'MAISON, Marilyn;
- BEDELL, Barry J.;
- CAUDILL, Marie A.;
- ROZEN, Rima
Publication type:
Article
The Shrinking Brain: Cerebral Atrophy Following Traumatic Brain Injury.
Published in:
Annals of Biomedical Engineering, 2019, v. 47, n. 9, p. 1941, doi. 10.1007/s10439-018-02148-2
By:
- Harris, Taylor C.;
- de Rooij, Rijk;
- Kuhl, Ellen
Publication type:
Article
3D Pre-Processing Algorithm for MRI Images of Different Stages of AD.
Published in:
International Journal of Online & Biomedical Engineering, 2023, v. 19, n. 15, p. 127, doi. 10.3991/ijoe.v19i15.40191
By:
- T. R., Thamizhvani;
- R. J., Hemalatha
Publication type:
Article
Relapse recovery in multiple sclerosis: Effect of treatment and contribution to long-term disability.
Published in:
Multiple Sclerosis Journal - Experimental, Translational & Clinical, 2021, p. 1, doi. 10.1177/20552173211015503
By:
- Sotiropoulos, Marinos G;
- Lokhande, Hrishikesh;
- Healy, Brian C;
- Polgar-Turcsanyi, Mariann;
- Glanz, Bonnie I;
- Bakshi, Rohit;
- Weiner, Howard L;
- Chitnis, Tanuja
Publication type:
Article
Influence of equipment changes on MRI measures of brain atrophy and brain microstructure in a placebo-controlled trial of ibudilast in progressive multiple sclerosis.
Published in:
Multiple Sclerosis Journal - Experimental, Translational & Clinical, 2021, p. 1, doi. 10.1177/20552173211010843
By:
- Sakaie, Ken;
- Fedler, Janel K;
- Yankey, Jon W;
- Nakamura, Kunio;
- Debbins, Josef;
- Lowe, Mark J;
- Raska, Paola;
- Fox, Robert J
Publication type:
Article
Relapse recovery in multiple sclerosis: Effect of treatment and contribution to long-term disability.
Published in:
Multiple Sclerosis Journal - Experimental, Translational & Clinical, 2021, v. 7, n. 2, p. 1, doi. 10.1177/20552173211015503
By:
- Sotiropoulos, Marinos G;
- Lokhande, Hrishikesh;
- Healy, Brian C;
- Polgar-Turcsanyi, Mariann;
- Glanz, Bonnie I;
- Bakshi, Rohit;
- Weiner, Howard L;
- Chitnis, Tanuja
Publication type:
Article
Influence of equipment changes on MRI measures of brain atrophy and brain microstructure in a placebo-controlled trial of ibudilast in progressive multiple sclerosis.
Published in:
Multiple Sclerosis Journal - Experimental, Translational & Clinical, 2021, v. 7, n. 2, p. 1, doi. 10.1177/20552173211010843
By:
- Sakaie, Ken;
- Fedler, Janel K;
- Yankey, Jon W;
- Nakamura, Kunio;
- Debbins, Josef;
- Lowe, Mark J;
- Raska, Paola;
- Fox, Robert J
Publication type:
Article
Brain atrophy and clinical characteristics predicting SDMT performance in multiple sclerosis: A 10-year follow-up study.
Published in:
Multiple Sclerosis Journal - Experimental, Translational & Clinical, 2021, p. 1, doi. 10.1177/2055217321992394
By:
- Jacobsen, Cecilie;
- Zivadinov, Robert;
- Myhr, Kjell-Morten;
- Dalaker, Turi O;
- Dalen, Ingvild;
- Benedict, Ralph HB;
- Bergsland, Niels;
- Farbu, Elisabeth
Publication type:
Article
Brain atrophy and clinical characteristics predicting SDMT performance in multiple sclerosis: A 10-year follow-up study.
Published in:
Multiple Sclerosis Journal - Experimental, Translational & Clinical, 2021, v. 7, n. 1, p. 1, doi. 10.1177/2055217321992394
By:
- Jacobsen, Cecilie;
- Zivadinov, Robert;
- Myhr, Kjell-Morten;
- Dalaker, Turi O.;
- Dalen, Ingvild;
- Benedict, Ralph H. B.;
- Bergsland, Niels;
- Farbu, Elisabeth
Publication type:
Article
Brainstem lesions are associated with sleep apnea in multiple sclerosis.
Published in:
Multiple Sclerosis Journal - Experimental, Translational & Clinical, 2020, p. 1, doi. 10.1177/2055217320967955
By:
- Levit, Elle;
- Bouley, Andrew;
- Baber, Ursela;
- Djonlagic, Ina;
- Sloane, Jacob A
Publication type:
Article
Brainstem lesions are associated with sleep apnea in multiple sclerosis.
Published in:
Multiple Sclerosis Journal - Experimental, Translational & Clinical, 2020, v. 6, n. 4, p. 1, doi. 10.1177/2055217320967955
By:
- Levit, Elle;
- Bouley, Andrew;
- Baber, Ursela;
- Djonlagic, Ina;
- Sloane, Jacob A
Publication type:
Article
Head-to-head comparison of 6 plasma biomarkers in early multiple system atrophy.
Published in:
NPJ Parkinson's Disease, 2023, v. 9, n. 1, p. 1, doi. 10.1038/s41531-023-00481-5
By:
- Guo, Yu;
- Shen, Xue-Ning;
- Huang, Shu-Yi;
- Chen, Shu-Fen;
- Wang, Hui-Fu;
- Zhang, Wei;
- Zhang, Ya-Ru;
- Cheng, Wei;
- Cui, Mei;
- Dong, Qiang;
- Yu, Jin-Tai
Publication type:
Article
Linking the phenotype of SNCA Triplication with PET-MRI imaging pattern and alpha-synuclein CSF seeding.
Published in:
NPJ Parkinson's Disease, 2022, v. 8, n. 1, p. 1, doi. 10.1038/s41531-022-00379-8
By:
- Wurster, Isabel;
- Quadalti, Corinne;
- Rossi, Marcello;
- Hauser, Ann-Kathrin;
- Deuschle, Christian;
- Schulte, Claudia;
- Waniek, Katharina;
- Lachmann, Ingolf;
- la Fougere, Christian;
- Doppler, Kathrin;
- Gasser, Thomas;
- Bender, Benjamin;
- Parchi, Piero;
- Brockmann, Kathrin
Publication type:
Article
Brain atrophy pattern in de novo Parkinson's disease with probable RBD associated with cognitive impairment.
Published in:
NPJ Parkinson's Disease, 2022, v. 8, n. 1, p. 1, doi. 10.1038/s41531-022-00326-7
By:
- Oltra, Javier;
- Uribe, Carme;
- Segura, Barbara;
- Campabadal, Anna;
- Inguanzo, Anna;
- Monté-Rubio, Gemma C.;
- Pardo, Jèssica;
- Marti, Maria J.;
- Compta, Yaroslau;
- Valldeoriola, Francesc;
- Junque, Carme;
- Iranzo, Alex
Publication type:
Article
Shared and Distinct Associations of Manual Dexterity and Gross Motor Function With Brain Atrophy.
Published in:
Journals of Gerontology Series A: Biological Sciences & Medical Sciences, 2024, v. 79, n. 3, p. 1, doi. 10.1093/gerona/glad245
By:
- Dougherty, Ryan J;
- Wang, Hang;
- Gross, Alden L;
- Schrack, Jennifer A;
- Agrawal, Yuri;
- Davatzikos, Christos;
- Cai, Yurun;
- Simonsick, Eleanor M;
- Ferrucci, Luigi;
- Resnick, Susan M;
- Tian, Qu
Publication type:
Article
Significant Acceleration of Regional Brain Aging and Atrophy After Mild Traumatic Brain Injury.
Published in:
Journals of Gerontology Series A: Biological Sciences & Medical Sciences, 2023, v. 78, n. 8, p. 1328, doi. 10.1093/gerona/glad079
By:
- Shida, Alexander F;
- Massett, Roy J;
- Imms, Phoebe;
- Vegesna, Ramanand V;
- Amgalan, Anar;
- Irimia, Andrei
Publication type:
Article
Objective Physical Activity Accumulation and Brain Volume in Older Adults: An MRI and Whole-Brain Volume Study.
Published in:
Journals of Gerontology Series A: Biological Sciences & Medical Sciences, 2023, v. 78, n. 6, p. 902, doi. 10.1093/gerona/glac150
By:
- Melo Neves, Lucas;
- Ritti-Dias, Raphael;
- Juday, Valeria;
- Marquesini, Raquel;
- Mendes Gerage, Aline;
- Cândido Laurentino, Gilberto;
- Hoffmann Nunes, Renato;
- Stubbs, Brendon;
- Ugrinowitsch, Carlos
Publication type:
Article
Energetic Cost of Walking and Brain Atrophy in Mid-to-Late Life.
Published in:
2022
By:
- Dougherty, Ryan J;
- Liu, Fangyu;
- An, Yang;
- Wanigatunga, Amal A;
- Tian, Qu;
- Davatzikos, Christos;
- Simonsick, Eleanor M;
- Ferrucci, Luigi;
- Resnick, Susan M;
- Schrack, Jennifer A
Publication type:
journal article
Frailty Is Associated With Cognitive Decline Independent of Cerebral Small Vessel Disease and Brain Atrophy.
Published in:
2022
By:
- Siejka, Timothy P;
- Srikanth, Velandai K;
- Hubbard, Ruth E;
- Moran, Chris;
- Beare, Richard;
- Wood, Amanda G;
- Collyer, Taya A;
- Gujjari, Siddhanth;
- Phan, Thanh G;
- Callisaya, Michele L
Publication type:
journal article
The Indigenous South American Tsimane Exhibit Relatively Modest Decrease in Brain Volume With Age Despite High Systemic Inflammation.
Published in:
2021
By:
- Irimia, Andrei;
- Chaudhari, Nikhil N;
- Robles, David J;
- Rostowsky, Kenneth A;
- Maher, Alexander S;
- Chowdhury, Nahian F;
- Calvillo, Maria;
- Ngo, Van;
- Gatz, Margaret;
- Mack, Wendy J;
- Law, E Meng;
- Sutherland, M Linda;
- Sutherland, James D;
- Rowan, Christopher J;
- Wann, L Samuel;
- Allam, Adel H;
- Thompson, Randall C;
- Michalik, David E;
- Cummings, Daniel K;
- Seabright, Edmond
Publication type:
journal article
A Gray Matter Volume Covariance Network Associated with the Motoric Cognitive Risk Syndrome: A Multicohort MRI Study.
Published in:
2019
By:
- Blumen, Helena M;
- Verghese, Joe;
- Allali, Gilles;
- Beauchet, Olivier;
- Lipton, Richard B
Publication type:
journal article
Magnetic resonance imaging changes in Asian people living with HIV.
Published in:
Infectious Diseases, 2021, v. 53, n. 2, p. 89, doi. 10.1080/23744235.2020.1825797
By:
- Yoshino, Yusuke;
- Koga, Ichiro;
- Kitazawa, Takatoshi;
- Oba, Hiroshi;
- Furui, Shigeru;
- Matsuda, Hiroshi;
- Ota, Yasuo
Publication type:
Article
Novel LAGE3 Pathogenic Variants Combined with TRPC6 and NUP160 Variants in Galloway-Mowat Syndrome: A Case Report.
Published in:
2023
By:
- Huang, Limin;
- Zhang, Xiaojing;
- Zhang, Yingying;
- Wang, Yanfei;
- Mao, Jianhua
Publication type:
Case Study
Hemispheric Cortical, Cerebellar and Caudate Atrophy Associated to Cognitive Impairment in Metropolitan Mexico City Young Adults Exposed to Fine Particulate Matter Air Pollution.
Published in:
Toxics, 2022, v. 10, n. 4, p. N.PAG, doi. 10.3390/toxics10040156
By:
- Calderón-Garcidueñas, Lilian;
- Hernández-Luna, Jacqueline;
- Mukherjee, Partha S.;
- Styner, Martin;
- Chávez-Franco, Diana A.;
- Luévano-Castro, Samuel C.;
- Crespo-Cortés, Celia Nohemí;
- Stommel, Elijah W.;
- Torres-Jardón, Ricardo
Publication type:
Article
Phenytoin Induced Cerebral Atrophy: A Case Report.
Published in:
2022
By:
- Linggi, Celeste;
- Mathews, Anit;
- Mopidev, Rasi;
- Nyamagoud, Sanat Kumar B.;
- D. S., Usha
Publication type:
Case Study
Loss of presenilin function enhances tau phosphorylation and aggregation in mice.
Published in:
Acta Neuropathologica Communications, 2021, v. 9, n. 1, p. 1, doi. 10.1186/s40478-021-01259-7
By:
- Soto-Faguás, Carlos M.;
- Sanchez-Molina, Paula;
- Saura, Carlos A.
Publication type:
Article
Transmission of amyloid-beta and tau pathologies is associated with cognitive impairments in a primate.
Published in:
Acta Neuropathologica Communications, 2021, v. 9, n. 1, p. 1, doi. 10.1186/s40478-021-01266-8
By:
- Lam, Suzanne;
- Petit, Fanny;
- Hérard, Anne-Sophie;
- Boluda, Susana;
- Eddarkaoui, Sabiha;
- Guillermier, Martine;
- The Brain Bank Neuro-C. E. B. Neuropathology Network;
- Letournel, Franck;
- Martin-Négrier, Marie-Laure;
- Faisant, Maxime;
- Godfraind, Catherine;
- Boutonnat, Jean;
- Maurage, Claude-Alain;
- Deramecourt, Vincent;
- Duchesne, Mathilde;
- Meyronet, David;
- Fenouil, Tanguy;
- de Paula, André Mauès;
- Rigau, Valérie;
- Vandenbos-Burel, Fanny
Publication type:
Article
CSF1R inhibition rescues tau pathology and neurodegeneration in an A/T/N model with combined AD pathologies, while preserving plaque associated microglia.
Published in:
Acta Neuropathologica Communications, 2021, v. 9, n. 1, p. 1, doi. 10.1186/s40478-021-01204-8
By:
- Lodder, Chritica;
- Scheyltjens, Isabelle;
- Stancu, Ilie Cosmin;
- Botella Lucena, Pablo;
- Gutiérrez de Ravé, Manuel;
- Vanherle, Sarah;
- Vanmierlo, Tim;
- Cremers, Niels;
- Vanrusselt, Hannah;
- Brône, Bert;
- Hanseeuw, Bernard;
- Octave, Jean-Noël;
- Bottelbergs, Astrid;
- Movahedi, Kiavash;
- Dewachter, Ilse
Publication type:
Article
Changes in cerebral vascular reactivity and structure following prolonged exposure to high altitude in humans.
Published in:
Physiological Reports, 2015, v. 3, n. 12, p. n/a, doi. 10.14814/phy2.12647
By:
- Foster, Glen E.;
- Davies‐Thompson, Jodie;
- Dominelli, Paolo B.;
- Heran, Manraj K. S.;
- Donnelly, Joseph;
- duManoir, Gregory R.;
- Ainslie, Philip N.;
- Rauscher, Alexander;
- Sheel, A. William
Publication type:
Article
RARS1‐related hypomyelinating leukodystrophy‐9 (HLD‐9) in two distinct Iranian families: Case report and literature review.
Published in:
Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 4, p. 1, doi. 10.1002/mgg3.2435
By:
- Biglari, Sajjad;
- Vahidnezhad, Hassan;
- Tabatabaiefar, Mohammad Amin;
- Khorram Khorshid, Hamid Reza;
- Esmaeilzadeh, Emran
Publication type:
Article
Biallelic pathogenic variants of PARS2 cause developmental and epileptic encephalopathy with spike‐and‐wave activation in sleep.
Published in:
Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2311
By:
- Licchetta, Laura;
- Di Giorgi, Lucia;
- Santucci, Margherita;
- Taruffi, Lisa;
- Stipa, Carlotta;
- Minardi, Raffaella;
- Carelli, Valerio;
- Bisulli, Francesca
Publication type:
Article
Expanding the allelic spectrum of ELOVL4‐related autosomal recessive neuro‐ichthyosis.
Published in:
Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 12, p. 1, doi. 10.1002/mgg3.2256
By:
- Alabdulrazzaq, Fatima;
- Alanzi, Talal;
- Al‐Balool, Haya H.;
- Gardham, Alice;
- Wakeling, Emma;
- Leitch, Harry G.;
- AlSayed, Moeenaldeen;
- Abdulrahim, Maha;
- Aladwani, Abdulaziz;
- Romito, Antonio;
- Kampe, Kapil;
- Ferdinandusse, Sacha;
- Aboelanine, Ashraf H.;
- Abdullah, Amira;
- Alwadani, Amal;
- Bastaki, Laila;
- Vaz, Frédéric M.;
- Bertoli‐Avella, Aida M.;
- Marafi, Dana
Publication type:
Article
MRI characteristics due to gene mutations in a Chinese pedigree with Lafora disease.
Published in:
Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 10, p. 1, doi. 10.1002/mgg3.2228
By:
- Sun, Yueqian;
- Zhou, Ziqi;
- Wang, Qun;
- Yan, Jing;
- Zhang, Zaiqiang;
- Cui, Tao
Publication type:
Article