نتائج البحث - Henry Houlden

Updates on potential therapeutic targets in MSA حسب Viorica Chelban, Conceição Bettencourt, Henry Houlden

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Epileptic Phenotypes Associated With SNAREs and Related Synaptic Vesicle Exocytosis Machinery حسب Elisa Cali, Clarissa Rocca, Vincenzo Salpietro, Henry Houlden

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Editorial: Multifaceted genes in amyotrophic lateral sclerosis-frontotemporal dementia volume II حسب Francesca Luisa Conforti, Alan Edward Renton, Henry Houlden

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Globalizing newborn screening: bridging gaps in genetic diagnosis and treatment حسب Huma Tariq, Huma Tariq, Vincenzo Salpietro, Henry Houlden, Giovanni Stevanin

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Reply: Genetic heterogeneity of neuronal intranuclear inclusion disease. What about the infantile variant? حسب Wai Yan Yau, Zhongbo Chen, Roisin Sullivan, Jana Vandrovcova, Henry Houlden

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Spinocerebellar ataxia 27B: A novel, frequent and potentially treatable ataxia حسب David Pellerin, Matt C. Danzi, Mathilde Renaud, Henry Houlden, Matthis Synofzik, Stephan Zuchner, Bernard Brais

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Generation of a human iPSC line (UCLi025-A) from a patient with PHARC syndrome harbouring biallelic variants in ABHD12 حسب Sara Romero-Vázquez, Katy Linkens, Lyes Toualbi, Daniel Jackson, Cécile Méjécase, Henry Houlden, Mariya Moosajee

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Leucine rich repeat kinase 2 (LRRK2) GLY2019SER mutation is absent in a second cohort of Nigerian Africans with Parkinson disease. حسب Njideka U Okubadejo, Mie Rizig, Oluwadamilola O Ojo, Hallgeir Jonvik, Olajumoke Oshinaike, Emmeline Brown, Henry Houlden

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P723: Expanding the diagnostic toolkit using long-read RNA-sequencing حسب Kylie Montgomery, Hannah Macpherson, Claire Anderson, Emil Gustavsson, Henry Houlden, Emma Clement, Philippa Mills, Mina Ryten

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Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families حسب Muhammad Ilyas, Stephanie Efthymiou, Vincenzo Salpietro, Nuzhat Noureen, Faisal Zafar, Sobiah Rauf, Asif Mir, Henry Houlden

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Generation of TWO G51D SNCA missense mutation iPSC lines (CRICKi011-A, CRICKi012-A) from two individuals at risk of Parkinson’s disease حسب Liani G. Devito, Zeinab Shadman Zanjani, James R. Evans, Annarita Scardamaglia, Henry Houlden, Sonia Gandhi, Lyn Healy

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P678: Biallelic variants in BECN1 are associated with a complex neurodevelopmental syndrome حسب Farid Ullah, Vincenzo Salpietro, Meghan Coghlan, Abhineet Sharma, Angelique Mercier, Anne McRae, Henry Houlden, Erica Davis

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Functional Studies of Missense TREM2 Mutations in Human Stem Cell-Derived Microglia حسب Philip W. Brownjohn, James Smith, Ravi Solanki, Ebba Lohmann, Henry Houlden, John Hardy, Sabine Dietmann, Frederick J. Livesey

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Charcot-Marie-Tooth type 4B2 demyelinating neuropathy in miniature Schnauzer dogs caused by a novel splicing SBF2 (MTMR13) genetic variant: a new spontaneous clinical model حسب Nicolas Granger, Alejandro Luján Feliu-Pascual, Charlotte Spicer, Sally Ricketts, Rebekkah Hitti, Oliver Forman, Joshua Hersheson, Henry Houlden

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Coenzyme Q10 Levels Are Decreased in the Cerebellum of Multiple-System Atrophy Patients. حسب Lucia V Schottlaender, Conceição Bettencourt, Aoife P Kiely, Annapurna Chalasani, Viruna Neergheen, Janice L Holton, Iain Hargreaves, Henry Houlden

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Establishment and characterization of three human pluripotent stem cell lines from Charcot-Marie-Tooth disease Type 4B3 patients bearing mutations in MTMR5/Sbf1 gene حسب Elizabeth H. Jacobs, Jacquelyn Schatzman Raposo, Annarita Scardamaglia, Fowzan S. Alkuraya, Shahriar Nafissi, Henry Houlden, Stephan Zuchner, Mario A. Saporta

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Analysis of C9orf72 repeat expansions in Georgian patients with Amyotrophic lateral sclerosis (ALS) [version 2; peer review: 2 approved] حسب Mariam Kekenadze, Clarissa Rocca, Henry Houlden, Rauan Kaiyrzhanov, Shorena Vashadze, Maia Beridze, Sara Nagy, Nana Kvirkvelia, Valentina Turchetti, Eka Kvaratskhelia

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Synaptic dysfunction and extracellular matrix dysregulation in dopaminergic neurons from sporadic and E326K-GBA1 Parkinson’s disease patients حسب Idan Rosh, Utkarsh Tripathi, Yara Hussein, Wote Amelo Rike, Jose Djamus, Boris Shklyar, Andreea Manole, Henry Houlden, Jurgen Winkler, Fred H. Gage, Shani Stern

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Upregulated ECM genes and increased synaptic activity in Parkinson’s human DA neurons with PINK1/ PRKN mutations حسب Utkarsh Tripathi, Idan Rosh, Ran Ben Ezer, Ritu Nayak, Yara Hussein, Ashwani Choudhary, Jose Djamus, Andreea Manole, Henry Houlden, Fred H. Gage, Shani Stern

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Parkinson’s Disease in Central Asian and Transcaucasian Countries: A Review of Epidemiology, Genetics, Clinical Characteristics, and Access to Care حسب Rauan Kaiyrzhanov, Mie Rizig, Akbota Aitkulova, Nazira Zharkinbekova, Chingiz Shashkin, Gulnaz Kaishibayeva, Altynay Karimova, Talgat Khaibullin, Dinara Sadykova, Manizha Ganieva, Khurshidakhon Rasulova, Henry Houlden

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