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1.

The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders.

Sidpra, Jai; Sudhakar, Sniya; Biswas, Asthik; Massey, Flavia; Turchetti, Valentina; Lau, Tracy; Cook, Edward; Alvi, Javeria Raza; Elbendary, Hasnaa M; Jewell, Jerry L; Riva, Antonella; Orsini, Alessandro; Vignoli, Aglaia; Federico, Zara; Rosenblum, Jessica; Schoonjans, An-Sofie; de Wachter, Matthias; Delgado Alvarez, Ignacio; Felipe-Rucián, Ana; Haridy, Nourelhoda A; Haider, Shahzad; Zaman, Mashaya; Banu, Selina; Anwaar, Najwa; Rahman, Fatima; Maqbool, Shazia; Yadav, Rashmi; Salpietro, Vincenzo; Maroofian, Reza; Patel, Rajan; Radhakrishnan, Rupa; Prabhu, Sanjay P; Lichtenbelt, Klaske; Stewart, Helen; Murakami, Yoshiko; Löbel, Ulrike; D'Arco, Felice; Wakeling, Emma; Jones, Wendy; Hay, Eleanor; Bhate, Sanjay; Jacques, Thomas S; Mirsky, David M; Whitehead, Matthew T; Zaki, Maha S; Sultan, Tipu; Striano, Pasquale; Jansen, Anna C; Lequin, Maarten; de Vries, Linda S.

Brain ; 2024 Mar 08.

Article in English | MEDLINE | ID: mdl-38456468

2.

Influence of initial clinical suspicion on the diagnostic yield of laboratory enzymatic testing in lysosomal storage disorders. Experience from a multispecialty hospital.

Carnicer-Cáceres, Clara; Villena-Ortiz, Yolanda; Castillo-Ribelles, Laura; Barquín-Del-Pino, Raquel; Camprodon-Gomez, Maria; Felipe-Rucián, Ana; Moreno-Martínez, David; Lucas-Del-Pozo, Sara; Hernández-Vara, Jorge; García-Serra, Anna; Tigri-Santiña, Ariadna; Moltó-Abad, Marc; Agraz-Pamplona, Irene; Rodriguez-Palomares, Jose F; Limeres-Freire, Javier; Macaya-Font, Marc; Rodríguez-Sureda, Victor; Miguel, Lucy Dougherty-De; Del-Toro-Riera, Mireia; Pintos-Morell, Guillem; Arranz-Amo, Jose Antonio.

Blood Cells Mol Dis ; 98: 102704, 2023 01.

Article in English | MEDLINE | ID: mdl-36265282

3.

Non-ADEM encephalitis in patients with myelin oligodendrocyte glycoprotein antibodies: a systematic review.

Vega, Enrique; Arrambide, Georgina; Olivé, Gemma; Castillo, Mireia; Felipe-Rucián, Ana; Tintoré, Mar; Montalban, Xavier; Espejo, Carmen; Sepúlveda, María; Armangué, Thais; Cobo-Calvo, Alvaro.

Eur J Neurol ; 30(5): 1515-1527, 2023 05.

Article in English | MEDLINE | ID: mdl-36704861

4.

Age-dependent favorable visual recovery despite significant retinal atrophy in pediatric MOGAD: how much retina do you really need to see well?

Havla, Joachim; Pakeerathan, Thivya; Schwake, Carolin; Bennett, Jeffrey L; Kleiter, Ingo; Felipe-Rucián, Ana; Joachim, Stephanie C; Lotz-Havla, Amelie S; Kümpfel, Tania; Krumbholz, Markus; Wendel, Eva M; Reindl, Markus; Thiels, Charlotte; Lücke, Thomas; Hellwig, Kerstin; Gold, Ralf; Rostasy, Kevin; Ayzenberg, Ilya.

J Neuroinflammation ; 18(1): 121, 2021 May 29.

Article in English | MEDLINE | ID: mdl-34051804

5.

Primary endovascular treatment for acute ischemic stroke in teenage patients: a short case series.

Parra-Fariñas, Carmen; Dmytriw, Adam A; Delgado-Álvarez, Ignacio; Sánchez-Montánez, Ángel; de Miquel, Maria Angeles; Sola, Teresa; Felipe-Rucián, Ana; Macaya, Alfons; Tomasello, Alejandro; Ribó, Marc; Vázquez-Méndez, Élida.

Neuroradiology ; 62(7): 851-860, 2020 Jul.

Article in English | MEDLINE | ID: mdl-32307558

6.

Homomeric Kv7.2 current suppression is a common feature in KCNQ2 epileptic encephalopathy.

Gomis-Pérez, Carolina; Urrutia, Janire; Marcé-Grau, Anna; Malo, Covadonga; López-Laso, Eduardo; Felipe-Rucián, Ana; Raspall-Chaure, Miquel; Macaya, Alfons; Villarroel, Alvaro.

Epilepsia ; 60(1): 139-148, 2019 01.

Article in English | MEDLINE | ID: mdl-30478917

7.

"Leukodystrophy-Like" Phenotype in Anti-MOG Antibody-Associated Disorders.

Ortiz de Zarate, Zuriñe; Felipe-Rucián, Ana; Sánchez-Montáñez, Ángel; Armangué, Thais; Gómez-Andrés, David.

Neuropediatrics ; 53(2): 147-148, 2022 04.

Article in English | MEDLINE | ID: mdl-35030636

8.

Diagnostic challenge in children with an acquired demyelinating syndrome: an illustrative case report.

Midaglia, Luciana; Felipe-Rucián, Ana; Delgado Alvarez, Ignacio; Montalban, Xavier; Tintoré, Mar.

Front Neurosci ; 17: 1205065, 2023.

Article in English | MEDLINE | ID: mdl-37547139

9.

Impact of COVID19 pandemic on patients with rare diseases in Spain, with a special focus on inherited metabolic diseases.

Rovira-Remisa, M Mar; Moreira, Mónica; Ventura, Paula Sol; Gonzalez-Alvarez, Pablo; Mestres, Núria; Graterol Torres, Fredzzia; Joaquín, Clara; Seuma, Agustí Rodríguez-Palmero; Del Mar Martínez-Colls, Maria; Roche, Ana; Ibáñez-Micó, Salvador; López-Laso, Eduardo; Méndez-Hernández, María Jesús; Murillo, Marta; Monlleó-Neila, Laura; Maqueda-Castellote, Elena; Del Toro Riera, Mireia; Felipe-Rucián, Ana; Giralt-López, Maria; Cortès-Saladelafont, Elisenda.

Mol Genet Metab Rep ; 35: 100962, 2023 Jun.

Article in English | MEDLINE | ID: mdl-36909454

10.

Neurological Short-Term Outcomes of a Cohort of Children Born to Zika Virus-Infected Mothers in Barcelona.

Romaní, Natàlia; Pieras, Maria; Frick, Marie Antoinette; Sulleiro, Elena; Rodó, Carlota; Silgado, Aroa; Suy, Anna; Espiau, Maria; Thorne, Claire; Giaquinto, Carlo; Felipe-Rucián, Ana; Soler-Palacín, Pere; Soriano-Arandes, Antoni.

Children (Basel) ; 9(10)2022 Oct 09.

Article in English | MEDLINE | ID: mdl-36291474

11.

Associations of paediatric demyelinating and encephalitic syndromes with myelin oligodendrocyte glycoprotein antibodies: a multicentre observational study.

Armangue, Thaís; Olivé-Cirera, Gemma; Martínez-Hernandez, Eugenia; Sepulveda, Maria; Ruiz-Garcia, Raquel; Muñoz-Batista, Marta; Ariño, Helena; González-Álvarez, Veronica; Felipe-Rucián, Ana; Jesús Martínez-González, Maria; Cantarín-Extremera, Veronica; Concepción Miranda-Herrero, Maria; Monge-Galindo, Lorena; Tomás-Vila, Miguel; Miravet, Elena; Málaga, Ignacio; Arrambide, Georgina; Auger, Cristina; Tintoré, Mar; Montalban, Xavier; Vanderver, Adeline; Graus, Francesc; Saiz, Albert; Dalmau, Josep.

Lancet Neurol ; 19(3): 234-246, 2020 03.

Article in English | MEDLINE | ID: mdl-32057303

12.

Diagnòstic i maneig de la paràlisi facial de Bell / Diagnosis and management of facial Bell's palsy

González-Fernández, Laura; Arnó-Fortea, Erika; Pumarola, Fèlix; García-Vaquero, Cristina; Felipe-Rucián, Ana; Rello-Saltor, Victòria.

Pediatr. catalan ; 82(1): 7-14, Gener - Març 2022. ilus, tab

Article in Catalan | IBECS (Spain) | ID: ibc-210591

13.

Error innat del metabolisme diagnosticat després d'encefalopatia hiperamonièmica induïda per valproat / Error innato del metabolismo diagnosticado tras encefalopatía hiperamoniémica inducida por valproato / Inborn error of metabolism diagnosed after valproate -induced hyperammonemic encephalopathy

Zambrano Pey, Susana; Jiménez Vila, Guillem; Raspall Chaure, Miquel; Arranz Amo, José Antonio; Toro Riera, Mireia del; Felipe-Rucián, Ana.

Pediatr. catalan ; 81(4): 179-182, Oct-Dic. 2021. ilus

Article in Catalan | IBECS (Spain) | ID: ibc-218257

14.

Codi ictus pediàtric a Catalunya / No disponible

Felipe-Rucián, Ana; Renter-Valdovinos, Luis.

Pediatr. catalan ; 80(4): 161-162, oct.-dic. 2020.

Article in Catalan | IBECS (Spain) | ID: ibc-200119

15.

Teaching NeuroImages: Bilateral optic neuritis: When to suspect anti-MOG antibodies.

Felipe-Rucián, Ana; Wegener-Panzer, Andreas; Naßenstein, Isabelle; Reindl, Markus; Rostásy, Kevin.

Neurology ; 95(14): e2045-e2046, 2020 10 06.

Article in English | MEDLINE | ID: mdl-32646958

16.

[Enterovirus and neurological complications]. / Enterovirus y complicaciones neurológicas.

Macaya, Alfons; Felipe-Rucián, Ana.

An Pediatr (Barc) ; 86(3): 107-109, 2017 Mar.

Article in Spanish | MEDLINE | ID: mdl-28139410

17.

Enterovirus y complicaciones neurológicas / Enterovirus and neurological complications

Macaya, Alfons; Felipe-Rucián, Ana.

An. pediatr. (2003. Ed. impr.) ; 86(3): 107-109, mar. 2017. ilus

Article in Spanish | IBECS (Spain) | ID: ibc-160626

18.

Brote de enfermedad neurológica aguda asociada a enterovirus en Cataluña: aspectos neuropediátricos / Outbreak of acute neurological disease associated to enterovirus in Catalonia: neuropaediatric aspects

Felipe Rucián, Ana; Macaya Ruiz, Alfons.

Rev. neurol. (Ed. impr.) ; 63(1): 3-4, 1 jul., 2016.

Article in Spanish | IBECS (Spain) | ID: ibc-154384

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