Rapid and slow, twist and turn wing beating: Think of Wilson's disease.

Autor: Mahajan, Ojas¹ (AUTHOR), Giri, Anamika¹ (AUTHOR), Saldhana, Chrisann² (AUTHOR), Kumar, Sunil³ (AUTHOR)

Publikováno v: International Journal of Nutrition, Pharmacology, Neurological Diseases. Jan-Mar2023, Vol. 13 Issue 1, p77-79. 3p.

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Crochetage Sign - A Signature Electrocardiographic Sign of Atria Septal Defect.

Autor: Giri, Anamika¹, Acharya, Sourya¹, Kamat, Sandeep², Agrawal, Gajendra¹

Publikováno v: Journal of the Practice of Cardiovascular Sciences. May-Aug2022, Vol. 8 Issue 2, p115-116. 2p.

Moving beyond neurons: the role of cell type-specific gene regulation in Parkinson's disease heritability

Autor: Reynolds, Regina H, Botía, Juan, Gibbs, J Raphael, Duarte, Jacinto, Clarimón, Jordi, Dols-Icardo, Oriol, Infante, Jon, Marín, Juan, Kulisevsky, Jaime, Pagonabarraga, Javier, Gonzalez-Aramburu, Isabel, Rodriguez, Antonio Sanchez, Sierra, María, Hernandez, Dena G, Duran, Raquel, Ruz, Clara, Vives, Francisco, Escamilla-Sevilla, Francisco, Mínguez, Adolfo, Cámara, Ana, Compta, Yaroslau, Ezquerra, Mario, Marti, Maria Jose, Fernández, Manel, Singleton, Andrew B, Muñoz, Esteban, Fernández-Santiago, Rubén, Tolosa, Eduard, Valldeoriola, Francesc, García-Ruiz, Pedro, Heredia, Maria Jose Gomez, Errazquin, Francisco Perez, Hoenicka, Janet, Jimenez-Escrig, Adriano, Martínez-Castrillo, Juan Carlos, Reed, Xylena, Lopez-Sendon, Jose Luis, Torres, Irene Martínez, Tabernero, Cesar, Vela, Lydia, Zimprich, Alexander, Pihlstrom, Lasse, Koks, Sulev, Taba, Pille, Majamaa, Kari, Siitonen, Ari, Leonard, Hampton, Okubadejo, Njideka U, Ojo, Oluwadamilola O, Pitcher, Toni, Anderson, Tim, Bentley, Steven, Fowdar, Javed, Mellick, George, Dalrymple-Alford, John, Henders, Anjali K, Kassam, Irfahan, Blauwendraat, Cornelis, Montgomery, Grant, Sidorenko, Julia, Zhang, Futao, Xue, Angli, Vallerga, Costanza L, Wallace, Leanne, Wray, Naomi R, Yang, Jian, Visscher, Peter M, Gratten, Jacob, Faghri, Faraz, Silburn, Peter A, Halliday, Glenda, Hickie, Ian, Kwok, John, Lewis, Simon, Kennedy, Martin, Pearson, John, Bras, Jose, Guerreiro, Rita, Tucci, Arianna, Nalls, Mike A, Kia, Demis A, Houlden, Henry, Plun-Favreau, Helene, Mok, Kin Y, Wood, Nicholas W, Lovering, Ruth, R'Bibo, Lea, Rizig, Mie, Chelban, Viorica, Trabzuni, Daniah, Hardy, John, Tan, Manuela, Morris, Huw R, Middlehurst, Ben, Quinn, John, Billingsley, Kimberley, Holmans, Peter, Kinghorn, Kerri J, Lewis, Patrick, Escott-Price, Valentina, Williams, Nigel, Gagliano Taliun, Sarah A, Foltynie, Thomas, Brice, Alexis, Danjou, Fabrice, Lesage, Suzanne, Corvol, Jean-Christophe, Martinez, Maria, Giri, Anamika, Schulte, Claudia, Brockmann, Kathrin, Simon Sanchez, Javier, Ryten, Mina, Heutink, Peter, Gasser, Thomas, Rizzu, Patrizia, Sharma, Manu, Shulman, Joshua M, Robak, Laurie, Lubbe, Steven, Mencacci, Niccolo E, Finkbeiner, Steven, Lungu, Codrin, Noyce, Alastair J, Scholz, Sonja W, Gan-Or, Ziv, Rouleau, Guy A, Krohan, Lynne, van Hilten, Jacobus J, Marinus, Johan, Adarmes-Gómez, Astrid D, Bernal-Bernal, Inmaculada, Bonilla-Toribio, Marta, Buiza-Rueda, Dolores, Nicolas, Aude, Carrillo, Fátima, Carrión-Claro, Mario, Mir, Pablo, Gómez-Garre, Pilar, Jesús, Silvia, Labrador-Espinosa, Miguel A, Macias, Daniel, Vargas-González, Laura, Méndez-Del-Barrio, Carlota, Periñán-Tocino, Teresa, Cookson, Mark R, Tejera-Parrado, Cristina, Diez-Fairen, Monica, Aguilar, Miquel, Alvarez, Ignacio, Boungiorno, María Teresa, Carcel, Maria, Pastor, Pau, Tartari, Juan Pablo, Alvarez, Victoria, González, Manuel Menéndez, Bandres-Ciga, Sara, Blazquez, Marta, Garcia, Ciara, Suarez-Sanmartin, Esther, Barrero, Francisco Javier, Rezola, Elisabet Mondragon, Yarza, Jesús Alberto Bergareche, Pagola, Ana Gorostidi, de Munain Arregui, Adolfo López, Ruiz-Martínez, Javier, Cerdan, Debora

Publikováno v: npj Parkinsons Disease
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
npj Parkinson's Disease 5(1), 6 (2019). doi:10.1038/s41531-019-0076-6
NPJ Parkinson's Disease

Parkinson’s disease (PD), with its characteristic loss of nigrostriatal dopaminergic neurons and deposition of α-synuclein in neurons, is often considered a neuronal disorder. However, in recent years substantial evidence has emerged to implicate

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d98ebe9bfca548b96f41aec5f9eb86f1
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=2332

PLA2G6 Mutations Related to Distinct Phenotypes: A New Case with Early-onset Parkinsonism

Autor: Giri, Anamika, Guven, Gamze, Hanagasi, Hasmet, Hauser, Ann-Kathrin, Erginul-Unaltuna, Nihan, Bilgic, Basar, Gurvit, Hakan, Gasser, Thomas, Lohmann, Ebba, Heutink, Peter, Simon-Sanchez, Javier

Publikováno v: Tremor and other hyperkinetic movements 6, 1-6 (2016). doi:10.7916/D81G0M12
Tremor and Other Hyperkinetic Movements
Tremor and Other Hyperkinetic Movements, Vol 6 (2016)

Background: PLA2G6-associated neurodegeneration (PLAN) is a recessive neurodegenerative disorder characterized by three distinct phenotypes: infantile neuroaxonal dystrophy (INAD), atypical neuroaxonal dystrophy (atypical NAD), and PLA2G6-related dys

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f48355a4ca218e8eb8368a51c74edde9