Exome sequencing identifies three novel AD‐associated genes
Holstege, Henne, Hulsman, Marc, Charbonnier, Camille, Grenier‐Boley, Benjamin, Quenez, Olivier, Ahmad, Shahzad, Amin, Najaf, van Rooij, Jeroen G.J., Grozeva, Detelina, Norsworthy, Penny, Hummerich, Holger, Kawalia, Amit, Mok, Kin Y., Shoai, Maryam, Dols‐Icardo, Oriol, van Der Flier, Wiesje, Sims, Rebecca, Amouyel, Philippe, Hardy, John, Clarimon, Jordi, Mead, Simon, van Swieten, John C., Ramirez, Alfredo, van Duijn, Cornelia M., Williams, Julie, Nicolas, Gaël, Bellenguez, Céline, Lambert, Jean‐Charles
Published in Alzheimer's & dementia (01.12.2020)
Published in Alzheimer's & dementia (01.12.2020)
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Exome sequencing identifies three novel AD‐associated genes: Genetics/genetic factors of Alzheimer's disease
Holstege, Henne, Hulsman, Marc, Charbonnier, Camille, Grenier‐Boley, Benjamin, Quenez, Olivier, Ahmad, Shahzad, Amin, Najaf, van Rooij, Jeroen G.J., Grozeva, Detelina, Norsworthy, Penny, Hummerich, Holger, Kawalia, Amit, Mok, Kin Y., Shoai, Maryam, Dols‐Icardo, Oriol, van Der Flier, Wiesje, Sims, Rebecca, Amouyel, Philippe, Hardy, John, Clarimon, Jordi, Mead, Simon, van Swieten, John C., Ramirez, Alfredo, van Duijn, Cornelia M., Williams, Julie, Nicolas, Gaël, Bellenguez, Céline, Lambert, Jean‐Charles
Published in Alzheimer's & dementia (01.12.2020)
Published in Alzheimer's & dementia (01.12.2020)
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Journal Article
The genomic and clinical landscape of fetalakinesia
Pergande Matthias, Motameny Susanne, Özdemir Özkan, Kreutzer Mona, Wang Haicui, Hülya-Sevcan, Daimagüler, Becker, Kerstin, Karakaya Mert, Ehrhardt Harald, Elcioglu Nursel, Ostojic Slavica, Cho-Ming, Chao, Kawalia Amit, Duman Özgür, Koy, Anne, Hahn, Andreas, Reimann Jens, Schoner Katharina, Schänzer Anne, Westhoff, Jens H, Schwaibold Eva Maria Christina, Cossee Mireille, Imbert-Bouteille Marion, von Pein Harald, Haliloglu Göknur, Topaloglu Haluk, Altmüller Janine, Nürnberg, Peter, Thiele Holger, Heller, Raoul, Cirak Sebahattin
Published in Genetics in medicine (01.03.2020)
Published in Genetics in medicine (01.03.2020)
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Late diagnosis of a truncating WISP3 mutation entails a severe phenotype of progressive pseudorheumatoid dysplasia
Alawbathani, Salem, Kawalia, Amit, Karakaya, Mert, Altmüller, Janine, Nürnberg, Peter, Cirak, Sebahattin
Published in Cold Spring Harbor molecular case studies (01.02.2018)
Published in Cold Spring Harbor molecular case studies (01.02.2018)
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CEREBROSPINAL FLUID AND PLASMA LEVELS OF LYSOPHOSPHATIDIC ACIDS (LPAS) ASSOCIATE WITH CEREBROSPINAL FLUID Aβ-42 AND P-TAU
Ahmad, Shahzad, Kohler, Isabelle, Orellana, Adelina, Frölich, Lutz, de Rojas, Itziar, Gil, Silvia, Hernandez, Isabel, Hausner, Lucrezia, Kawalia, Amit, Bakker, Margot H.M., Socorro, Alfredo Cabrera, Amin, Najaf, Ramirez, Alfredo, Ruiz, Agustin, Hankemeier, Thomas, van Duijn, Cornelia M.
Published in Alzheimer's & dementia (01.07.2018)
Published in Alzheimer's & dementia (01.07.2018)
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APOE-ε4 MODULATES LEVELS OF OMEGA-3 AND OMEGA-6 FATTY ACIDS IN ALZHEIMER’S DISEASE DEMENTIA
Wagner-Thelen, Holger, Weinhold, Leonie, Leber, Markus, Kawalia, Amit, Kleineidam, Luca, Böhmer, Anne C., Heilman, Stefanie, Schmid, Matthias, Wagner, Michael, Riedel-Heller, Steffi G., Luck, Tobias, Egert, Sarah, Jessen, Frank, Maier, Wolfgang, Ramirez, Alfredo
Published in Alzheimer's & dementia (01.07.2018)
Published in Alzheimer's & dementia (01.07.2018)
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Journal Article
P3‐122: APOE‐ε4 MODULATES LEVELS OF OMEGA‐3 AND OMEGA‐6 FATTY ACIDS IN ALZHEIMER'S DISEASE DEMENTIA
Wagner-Thelen, Holger, Weinhold, Leonie, Leber, Markus, Kawalia, Amit, Kleineidam, Luca, Böhmer, Anne C., Heilman, Stefanie, Schmid, Matthias, Wagner, Michael, Riedel-Heller, Steffi G., Luck, Tobias, Egert, Sarah, Jessen, Frank, Maier, Wolfgang, Ramirez, Alfredo
Published in Alzheimer's & dementia (01.07.2018)
Published in Alzheimer's & dementia (01.07.2018)
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Journal Article
P1‐298: CEREBROSPINAL FLUID AND PLASMA LEVELS OF LYSOPHOSPHATIDIC ACIDS (LPAS) ASSOCIATE WITH CEREBROSPINAL FLUID Aβ‐42 AND P‐TAU
Ahmad, Shahzad, Kohler, Isabelle, Orellana, Adelina, Frölich, Lutz, Rojas, Itziar, Gil, Silvia, Hernandez, Isabel, Hausner, Lucrezia, Kawalia, Amit, Bakker, Margot H.M., Socorro, Alfredo Cabrera, Amin, Najaf, Ramirez, Alfredo, Ruiz, Agustin, Hankemeier, Thomas, Duijn, Cornelia M.
Published in Alzheimer's & dementia (01.07.2018)
Published in Alzheimer's & dementia (01.07.2018)
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O5‐04‐01: A RARE GENETIC VARIANT IN THE PLCG2 GENE IS ASSOCIATED WITH A REDUCED RISK OF ALL MAJOR TYPES OF DEMENTIA AND AN INCREASED RISK TO REACH AN EXTREMELY OLD AGE
Lee, Sven J., Jansen, Iris E., Pletnikova, Olga, Blauwendraat, Cornelis, Hulsman, Marc, Dalmasso, Maria Carolina, Kawalia, Amit, Ramirez, Alfredo, Flier, Wiesje M., Scheltens, Philip, Reinders, Marcel JT, Hernandez, Isabel, Lleó, Alberto, Fortea, Juan, Stringa, Najada, Ruiz, Agustín Ruiz, Illán-Gala, Ignacio, Morenas-Rodríguez, Estrella, Clarimon, Jordi, Lage, Carmen, Akker, Erik, Rodríguez, Eloy Rodríguez, Sánchez-Juan, Pascual, Pijnenburg, Yolande A.L., Schoor, Natasja, Simon-Sanchez, Javier, Lemstra, Afina W., Heutink, Peter, Scholz, Sonja, Huisman, Martijn, Slagboom, Eline, Holstege, Henne
Published in Alzheimer's & dementia (01.07.2018)
Published in Alzheimer's & dementia (01.07.2018)
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Journal Article
A RARE GENETIC VARIANT IN THE PLCG2 GENE IS ASSOCIATED WITH A REDUCED RISK OF ALL MAJOR TYPES OF DEMENTIA AND AN INCREASED RISK TO REACH AN EXTREMELY OLD AGE
Van der Lee, Sven J., Jansen, Iris E., Pletnikova, Olga, Blauwendraat, Cornelis, Hulsman, Marc, Dalmasso, Maria Carolina, Kawalia, Amit, Ramirez, Alfredo, Van der Flier, Wiesje M., Scheltens, Philip, Reinders, Marcel JT, Hernandez, Isabel, Lleó, Alberto, Fortea, Juan, Stringa, Najada, Ruiz, Agustín Ruiz, Illán-Gala, Ignacio, Morenas-Rodríguez, Estrella, Clarimon, Jordi, Lage, Carmen, van den Akker, Erik, Rodríguez, Eloy Rodríguez, Sánchez-Juan, Pascual, Pijnenburg, Yolande A.L., van Schoor, Natasja, Simon-Sanchez, Javier, Lemstra, Afina W., Heutink, Peter, Scholz, Sonja, Huisman, Martijn, Slagboom, Eline, Holstege, Henne
Published in Alzheimer's & dementia (01.07.2018)
Published in Alzheimer's & dementia (01.07.2018)
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