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Author/Creator Palau, Francesc

1. Behavioral addictions in early-onset Parkinson disease are associated with DRD3 variants. (April 2018)

Authors:
Castro-Martínez, Xochitl Helga; García-Ruiz, Pedro J.; Martínez-García, Carlos; Martínez-Castrillo, Juan Carlos; Vela, Lydia; Mata, Marina; Martínez-Torres, Irene; Feliz-Feliz, Cici; Palau, Francesc; Hoenicka, Janet
Journal:
Parkinsonism & related disorders
Issue:
Volume 49(2018)
Page Start:
100
Record Type:
Journal Article
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2. CHRNG‐related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings. Issue 6 (14th March 2019)

Authors:
Carrera‐García, Laura; Natera‐de Benito, Daniel; Dieterich, Klaus; de la Banda, Marta G. G.; Felter, Adrien; Inarejos, Emili; Codina, Anna; Jou, Cristina; Roldan, Monica; Palau, Francesc; Hoenicka, Janet; Pijuan, Jordi; Ortez, Carlos; Expósito‐Escudero, Jessica; Durand, Chantal; Nugues, Frédériqu...
Journal:
American journal of medical genetics
Issue:
Volume 179:Issue 6(2019)
Page Start:
915
Record Type:
Journal Article
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3. CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative. Issue 5 (4th February 2022)

Authors:
Luque, Juan; Mendes, Ingrid; Gómez, Beatriz; Morte, Beatriz; López de Heredia, Miguel; Herreras, Enrique; Corrochano, Virginia; Bueren, Juan; Gallano, Pía; Artuch, Rafael; Fillat, Cristina; Pérez‐Jurado, Luis A.; Montoliu, Lluis; Carracedo, Ángel; Millán, José M.; Webb, Susan M.; Palau, Francesc;...
Other Names:
Aguado Carmen investigator.; Aguado Cristina investigator.; Aguilera Paula investigator.; Albiñana Virginia investigator.; Alías Laura investigator.; Almoguera Berta investigator.; Alonso Javier investigator.; Alonso‐Ferreira Verónica investigator.; Alvarez‐Mora María Isabel investigator.; Antiño...
Journal:
Clinical genetics
Issue:
Volume 101:Issue 5/6(2022)
Page Start:
481
Record Type:
Journal Article
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4. Common pathophysiology for ANXA11 disorders caused by aspartate 40 variants. Issue 3 (18th January 2023)

Authors:
Natera‐de Benito, Daniel; Olival, Jonathan; Garcia‐Cabau, Carla; Jou, Cristina; Roldan, Mònica; Codina, Anna; Expósito‐Escudero, Jessica; Batlle, Cristina; Carrera‐García, Laura; Ortez, Carlos; Salvatella, Xavier; Palau, Francesc; Nascimento, Andrés; Hoenicka, Janet
Journal:
Annals of clinical and translational neurology
Issue:
Volume 10:Issue 3(2023)
Page Start:
408
Record Type:
Journal Article
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6. Effective therapeutic strategies in a preclinical mouse model of Charcot–Marie–Tooth disease. Issue 24 (19th July 2021)

Authors:
Nuevo-Tapioles, Cristina; Santacatterina, Fulvio; Sánchez-Garrido, Brenda; de Arenas, Cristina Núñez; Robledo-Bérgamo, Adrián; Martínez-Valero, Paula; Cantarero, Lara; Pardo, Beatriz; Hoenicka, Janet; Murphy, Michael P; Satrústegui, Jorgina; Palau, Francesc; Cuezva, José M
Journal:
Human molecular genetics
Issue:
Volume 30:Issue 24(2021)
Page Start:
2441
Record Type:
Journal Article
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7. Epilepsy in LAMA2‐related muscular dystrophy: An electro‐clinico‐radiological characterization. (8th April 2020)

Authors:
Natera‐de Benito, Daniel; Muchart, Jordi; Itzep, Debora; Ortez, Carlos; González‐Quereda, Lidia; Gallano, Pía; Ramirez, Alia; Aparicio, Javier; Domínguez‐Carral, Jana; Carrera‐García, Laura; Expósito‐Escudero, Jessica; Pardo Cardozo, Nathalia; Cuadras, Daniel; Codina, Anna; Jou, Cristina; Jimenez...
Journal:
Epilepsia
Issue:
Volume 61:issue 5(2020)
Page Start:
971
Record Type:
Journal Article
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10. Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin. Issue 1 (13th September 2021)

Authors:
von der Lippe, Charlotte; Tveten, Kristian; Prescott, Trine E.; Holla, Øystein L.; Busk, Øyvind L.; Burke, Katherine B.; Sansbury, Francis H.; Baptista, Júlia; Fry, Andrew E.; Lim, Derek; Jolles, Stephen; Evans, Jennifer; Osio, Deborah; Macmillan, Carol; Bruno, Irene; Faletra, Flavio; Climent, Sa...
Journal:
American journal of medical genetics
Issue:
Volume 188:Issue 1(2022)
Page Start:
272
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗