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Alzheimer's & Dementia: The Journal of the Alzheimer's Association, ISSN 1552-5260, 07/2019, Volume 15, Issue 7, pp. P618 - P618
Journal Article
Alzheimer's & Dementia: The Journal of the Alzheimer's Association, ISSN 1552-5260, 07/2018, Volume 14, Issue 7, pp. P1447 - P1448
Journal Article
by Braun, Daniela A and Rao, Jia and Mollet, Geraldine and Schapiro, David and Daugeron, Marie-Claire and Tan, Weizhen and Gribouval, Olivier and Boyer, Olivia and Revy, Patrick and Jobst-Schwan, Tilman and Schmidt, Johanna Magdalena and Lawson, Jennifer A and Schanze, Denny and Ashraf, Shazia and Ullmann, Jeremy F. P and Hoogstraten, Charlotte A and Boddaert, Nathalie and Collinet, Bruno and Martin, Gaelle and Liger, Dominique and Lovric, Svjetlana and Furlano, Monica and Guerrera, I. Chiara and Sanchez-Ferras, Oraly and Hu, Jennifer F and Boschat, Anne-Claire and Sanquer, Sylvia and Menten, Björn and Vergult, Sarah and De Rocker, Nina and Airik, Merlin and Hermle, Tobias and Shril, Shirlee and Widmeier, Eugen and Yung Gee, Heon and Choi, Won-Il and Sadowski, Carolin E and Pabst, Werner L and Warejko, Jillian K and Daga, Ankana and Basta, Tamara and Matejas, Verena and Scharmann, Karin and Kienast, Sandra D and Behnam, Babak and Beeson, Brendan and Begtrup, Amber and Bruce, Malcolm and Ch'Ng, Gaik-Siew and Lin, Shuan-Pei and Chang, Jui-Hsing and Chen, Chao-Huei and Cho, Megan T and Gaffney, Patrick M and Gipson, Patrick E and Hsu, Chyong-Hsin and Kari, Jameela A and Ke, Yu-Yuan and Kiraly-Borri, Cathy and Lai, Wai-Ming and Lemyre, Emmanuelle and Littlejohn, Rebecca Okashah and Masri, Amira and Moghtaderi, Mastaneh and Nakamura, Kazuyuki and Ozaltin, Fatih and Praet, Marleen and Prasad, Chitra and Prytula, Agnieszka and Roeder, Elizabeth R and Rump, Patrick and Schnur, Rhonda E and Shiihara, Takashi and Sinha, Manish D and Soliman, Neveen A and Soulami, Kenza and Sweetser, David A and Tsai, Wen-Hui and Tsai, Jeng-Daw and Topaloglu, Rezan and Vester, Udo and Viskochil, David H and Vatanavicharn, Nithiwat and Waxler, Jessica L and Wierenga, Klaas J and Wolf, Matthias T. F and Wong, Sik-Nin and Leidel, Sebastian A and Truglio, Gessica and Dedon, Peter C and Poduri, Annapurna and Mane, Shrikant and Lifton, Richard P and Bouchard, Maxime and Kannu, Peter and Chitayat, David and Magen, Daniella and Callewaert, Bert and Van Tilbeurgh, Herman and Zenker, Martin and ...
Nature Genetics, ISSN 1061-4036, 10/2017, Volume 49, Issue 10, pp. 1529 - 1538
Journal Article
by Braun, Daniela A and Rao, Jia and Mollet, Geraldine and Schapiro, David and Daugeron, Marie-Claire and Tan, Weizhen and Gribouval, Olivier and Boyer, Olivia and Revy, Patrick and Jobst-Schwan, Tilman and Schmidt, Johanna Magdalena and Lawson, Jennifer A and Schanze, Denny and Ashraf, Shazia and Ullmann, Jeremy F P and Hoogstraten, Charlotte A and Boddaert, Nathalie and Collinet, Bruno and Martin, Gaëlle and Liger, Dominique and Lovric, Svjetlana and Furlano, Monica and Guerrera, I Chiara and Sanchez-Ferras, Oraly and Hu, Jennifer F and Boschat, Anne-Claire and Sanquer, Sylvia and Menten, Björn and Vergult, Sarah and De Rocker, Nina and Airik, Merlin and Hermle, Tobias and Shril, Shirlee and Widmeier, Eugen and Gee, Heon Yung and Choi, Won-Il and Sadowski, Carolin E and Pabst, Werner L and Warejko, Jillian K and Daga, Ankana and Basta, Tamara and Matejas, Verena and Scharmann, Karin and Kienast, Sana D and Behnam, Babak and Beeson, Brendan and Begtrup, Amber and Bruce, Malcolm and Ch'ng, Gaik-Siew and Lin, Shuan-Pei and Chang, Jui-Hsing and Chen, Chao-Huei and Cho, Megan T and Gaffney, Patrick M and Gipson, Patrick E and Hsu, Chyong-Hsin and Kari, Jameela A and Ke, Yu-Yuan and Kiraly-Borri, Cathy and Lai, Wai-Ming and Lemyre, Emmanuelle and Littlejohn, Rebecca Okashah and Masri, Amira and Moghtaderi, Mastaneh and Nakamura, Kazuyuki and Ozaltin, Fatih and Praet, Marleen and Prasad, Chitra and Prytula, Agnieszka and Roeder, Elizabeth R and Rump, Patrick and Schnur, Rhonda E and Shiihara, Takashi and Sinha, Manish D and Soliman, Neveen A and Soulami, Kenza and Sweetser, David A and Tsai, Wen-Hui and Tsai, Jeng-Daw and Topaloglu, Rezan and Vester, Udo and Viskochil, David H and Vatanavicharn, Nithiwat and Waxler, Jessica L and Wierenga, Klaas J and Wolf, Matthias T F and Wong, Sik-Nin and Leidel, Sebastian A and Truglio, Gessica and Dedon, Peter C and Poduri, Annapurna and Mane, Shrikant and Lifton, Richard P and Bouchard, Maxime and Kannu, Peter and Chitayat, David and Magen, Daniella and Callewaert, Bert and van Tilbeurgh, Herman and Zenker, Martin and ...
Nature Genetics, ISSN 1061-4036, 2017, Volume 49, Issue 10, pp. 1529 - 1529
Galloway-Mowat syndrome (GAMOS) is an autosomal-recessive disease characterized by the combination of early-onset nephrotic syndrome (SRNS) and microcephaly... 
YEAST | UNFOLDED PROTEIN RESPONSE | TRANSFER-RNA MODIFICATION | DNA | KINASE | SECKEL-SYNDROME | GENOME MAINTENANCE | WDR73 | GALLOWAY-MOWAT SYNDROME | MASS-SPECTROMETRY | GENETICS & HEREDITY | Metalloendopeptidases - genetics | Protein-Serine-Threonine Kinases - deficiency | Microcephaly - genetics | Humans | Metalloendopeptidases - deficiency | Apoptosis - genetics | Multiprotein Complexes - genetics | Nephrotic Syndrome - genetics | DNA Repair - genetics | Telomere Homeostasis - genetics | Endoplasmic Reticulum Stress - genetics | Intracellular Signaling Peptides and Proteins - deficiency | Hernia, Hiatal - genetics | Intracellular Signaling Peptides and Proteins - genetics | Podocytes - metabolism | RNA, Transfer - metabolism | Protein-Serine-Threonine Kinases - genetics | Models, Molecular | Nephrotic Syndrome - pathology | Zebrafish | Cytoskeleton - ultrastructure | Nephrosis - genetics | Gene Knockout Techniques | Carrier Proteins - genetics | Podocytes - ultrastructure | Zebrafish Proteins - deficiency | Animals | RNA Processing, Post-Transcriptional - genetics | CRISPR-Cas Systems | Protein Conformation | Mice | Mutation | Zebrafish Proteins - genetics | Cell Movement | Genetic disorders | Gene mutations | Development and progression | Nephrotic syndrome | Genetic aspects | Microcephaly | Health aspects | Cell proliferation | Brain | CRISPR | Genes | DNA damage | Genomes | Lethality | Kinases | Proteins | Genotype & phenotype | Microencephaly | Actin | Biopsy | Cytoskeleton | Scientific imaging | Endoplasmic reticulum | Mass spectrometry | Deoxyribonucleic acid--DNA | Apoptosis | Life Sciences
Journal Article
Alzheimer's & Dementia: The Journal of the Alzheimer's Association, ISSN 1552-5260, 2015, Volume 11, Issue 7, pp. P625 - P625
Journal Article
Neuropsychiatric Disease and Treatment, ISSN 1176-6328, 2015, Volume 11, pp. 2315 - 2322
Journal Article
Neuropsychiatric Disease and Treatment, ISSN 1176-6328, 01/2015, Volume 11, p. 2315
Alzheimer's disease (AD) is the most common form of dementia, which can be categorized into two main forms: early onset AD and late onset AD. The genetic... 
Gene mutations | Analysis | Schizophrenia | Genetic aspects | Alzheimer's disease
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 04/2019, Volume 64, Issue 4, pp. 313 - 322
Casein kinase 2 (CK2) is a serine threonine kinase ubiquitously expressed in eukaryotic cells and involved in various cellular processes. In recent studies, de... 
INTELLECTUAL DISABILITY | CK2-ALPHA | NEURODEVELOPMENTAL ABNORMALITIES | PROTEIN-KINASE CK2 | CATALYTIC-SUBUNIT | GENETICS & HEREDITY | DISORDERS | MICE | REGULATORY BETA-SUBUNIT | MUTATIONS
Journal Article
by Braun, Daniela A and Rao, Jia and Mollet, Geraldine and Schapiro, David and Daugeron, Marie-Claire and Tan, Weizhen and Gribouval, Olivier and Boyer, Olivia and Revy, Patrick and Jobst-Schwan, Tilman and Schmidt, Johanna Magdalena and Lawson, Jennifer A and Schanze, Denny and Ashraf, Shazia and Boddaert, Nathalie and Collinet, Bruno and Martin, Gaëlle and Liger, Dominique and Lovric, Svjetlana and Furlano, Monica and Guerrera, I. Chiara and Sanchez-Ferras, Oraly and Menten, Björn and Vergult, Sarah and De Rocker, Nina and Airik, Merlin and Hermle, Tobias and Shril, Shirlee and Widmeier, Eugen and Gee, Heon Yung and Choi, Won-Il and Sadowski, Carolin E and Pabst, Werner L and Warejko, Jillian and Daga, Ankana and LeBerre, Tamara Basta and Matejas, Verena and Behnam, Babak and Beeson, Brendan and Begtrup, Amber and Bruce, Malcolm and Ch'ng, Gaik-Siew and Lin, Shuan-Pei and Chang, Jui-Hsing and Chen, Chao-Huei and Cho, Megan T and Gipson, Patrick E and Hsu, Chyong-Hsin and Kari, Jameela A and Ke, Yu-Yuan and Kiraly-Borri, Cathy and Lai, Wai-ming and Lemyre, Emmanuelle and Littlejohn, Rebecca Okasha and Masri, Amira and Moghtaderi, Mastaneh and Nakamura, Kazuyuki and Praet, Marleen and Prasad, Chitra and Prytula, Agnieszka and Roeder, Elizabeth and Rump, Patrick and Schnur, Rhonda E and Shiihara, Takashi and Sinha, Manish and Soliman, Neveen A and Soulami, Kenza and Sweetser, David A and Tsai, Wen-Hui and Tsai, Jeng-Daw and Vester, Udo and Viskochil, David H and Vatanavicharn, Nithiwat and Waxler, Jessica L and Wolf, Matthias T.F and Wong, Sik-Nin and Poduri, Annapurna and Truglio, Gessica and Mane, Shrikant and Lifton, Richard P and Bouchard, Maxime and Kannu, Peter and Chitayat, David and Magen, Daniella and Calleweart, Bert and van Tilbeurgh, Herman and Zenker, Martin and Antignac, Corinne and Hildebrandt, Friedhelm
Nature genetics, ISSN 1061-4036, 10/2017, Volume 49, Issue 10, pp. 1529 - 1538
Galloway-Mowat syndrome (GAMOS) is a severe autosomal-recessive disease characterized by the combination of early-onset steroid-resistant nephrotic syndrome... 
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 03/2015, Volume 167, Issue 3, pp. 545 - 552
Journal Article
NEUROPSYCHIATRIC DISEASE AND TREATMENT, ISSN 1176-6328, 2015, Volume 11, Issue default, pp. 2315 - 2322
Alzheimer's disease (AD) is the most common form of dementia, which can be categorized into two main forms: early onset AD and late onset AD. The genetic... 
mutation | DEMENTIA | PSYCHIATRY | prion | ALZHEIMERS-DISEASE GENES | PRESENILIN-1 GENE | Alzheimer's disease | HIGH PREVALENCE | VARIANT | presenilin-1 | ONSET | CLINICAL NEUROLOGY | Proteins | Nuclear magnetic resonance--NMR | Hospitals | Collaboration | Genes | Family medical history | Mutation | Alzheimers disease | Patients | Siblings | Dementia
Journal Article
Molecular Vision, ISSN 1090-0535, 01/2015, Volume 21, pp. 1185 - 1190
Purpose: The availability of molecular genetic testing for retinoblastoma (RB) in Malaysia has enabled patients with a heritable predisposition to the disease... 
Journal Article
Epilepsia open, ISSN 2470-9239, 12/2018, Volume 3, Issue 4, pp. 495 - 502
Vitamin B -dependent epilepsies are treatable disorders caused by variants in several genes, such as , , and others. Recently, biallelic variants in formerly... 
Journal Article
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