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Revue Medicale Suisse, ISSN 1660-9379, 04/2018, Volume 14, Issue 604, pp. 879 - 882
Journal Article
Revue medicale suisse, ISSN 1660-9379, 04/2018, Volume 14, Issue 604, p. 879
Movement disorders of monogenic origin are rare. In case of a specific phenotype, classical targeted sequencing of the gene can be used. When the clinical... 
Journal Article
by Platzer, Konrad and Yuan, Hongjie and Schütz, Hannah and Winschel, Alexander and Chen, Wenjuan and Hu, Chun and Kusumoto, Hirofumi and Heyne, Henrike O and Helbig, Katherine L and Tang, Sha and Willing, Marcia C and Tinkle, Brad T and Adams, Darius J and Depienne, Christel and Keren, Boris and Mignot, Cyril and Frengen, Eirik and Strømme, Petter and Biskup, Saskia and Döcker, Dennis and Strom, Tim M and Mefford, Heather C and Myers, Candace T and Muir, Alison M and LaCroix, Amy and Sadleir, Lynette and Scheffer, Ingrid E and Brilstra, Eva and van Haelst, Mieke M and van der Smagt, Jasper J and Bok, Levinus A and Møller, Rikke S and Jensen, Uffe B and Millichap, John J and Berg, Anne T and Goldberg, Ethan M and De Bie, Isabelle and Fox, Stephanie and Major, Philippe and Jones, Julie R and Zackai, Elaine H and Abou Jamra, Rami and Rolfs, Arndt and Leventer, Richard J and Lawson, John A and Roscioli, Tony and Jansen, Floor E and Ranza, Emmanuelle and Korff, Christian M and Lehesjoki, Anna-Elina and Courage, Carolina and Linnankivi, Tarja and Smith, Douglas R and Stanley, Christine and Mintz, Mark and McKnight, Dianalee and Decker, Amy and Tan, Wen-Hann and Tarnopolsky, Mark A and Brady, Lauren I and Wolff, Markus and Dondit, Lutz and Pedro, Helio F and Parisotto, Sarah E and Jones, Kelly L and Patel, Anup D and Franz, David N and Vanzo, Rena and Marco, Elysa and Ranells, Judith D and Di Donato, Nataliya and Dobyns, William B and Laube, Bodo and Traynelis, Stephen F and Lemke, Johannes R
Journal of Medical Genetics, ISSN 0022-2593, 07/2017, Volume 54, Issue 7, pp. 460 - 470
Journal Article
Epileptic Disorders, ISSN 1294-9361, 08/2018, Volume 20, Issue 4, pp. 295 - 300
Epileptic spasms represent a subcategory of motor seizures that have been extensively documented and recently re‐classified by the International League Against... 
ictal semiology | epileptic spasm | ictal nystagmus | CLUSTERS | HYPSARRHYTHMIA | EPILEPTIC SPASMS | CLINICAL NEUROLOGY | Neuroimaging | Receptive field | Epilepsy | EEG | Cortex | Nystagmus | Infants | Binocular vision | Localization | Seizures
Journal Article
The Pediatric Infectious Disease Journal, ISSN 0891-3668, 10/2019, Volume 38, Issue 10, pp. 1071 - 1071
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 03/2015, Volume 96, Issue 3, pp. 412 - 424
Journal Article
Journal of pediatric hematology/oncology, ISSN 1077-4114, 10/2018, p. 1
Malignant or nonmalignant lymphoproliferative disorders together with repeated ear, nose, and throat infections should strongly motivate immunologic... 
Journal Article
Neuropediatrics, ISSN 0174-304X, 04/2018, Volume 49, Issue S 01, pp. S1 - S12
Conference Proceeding
Developmental Medicine & Child Neurology, ISSN 0012-1622, 01/2018, Volume 60, Issue 1, pp. 100 - 105
Focal cortical malformations and monogenic epilepsy syndromes may coexist. Structural lesions are to be searched for in patients with protocadherin 19 ( PCDH19... 
DISORDER | PEDIATRICS | FEMALE-LIMITED EPILEPSY | CLINICAL NEUROLOGY
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 06/2019, Volume 104, Issue 6, pp. 1073 - 1087
Cargo transport along the cytoplasmic microtubular network is essential for neuronal function, and cytoplasmic dynein-1 is an established molecular motor that... 
microcephaly | dynein | DYNC1I2 | dysmorphic facial features | apoptosis | developmental delay | zebrafish | autosomal recessive | intellectual disability | mitotic spindle
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 08/2018, Volume 27, Issue 15, pp. 2703 - 2711
Abstract Developmental eye defects often severely reduce vision. Despite extensive efforts, for a substantial fraction of these cases the molecular causes are... 
PAR-1 | PROTEIN | C-ELEGANS EMBRYOS | DROSOPHILA-MELANOGASTER | SIGNALING PATHWAY | BIOCHEMISTRY & MOLECULAR BIOLOGY | DISEASE | GENETICS & HEREDITY | RETINAL ANGIOGENESIS | MUTATIONS | FAMILIAL EXUDATIVE VITREORETINOPATHY | EYE DEVELOPMENT
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 03/2019, Volume 28, Issue 6, pp. 972 - 979
Abstract FBXL3 (F-Box and Leucine Rich Repeat Protein 3) encodes a protein that contains an F-box and several tandem leucine-rich repeats (LRR) domains. FBXL3... 
CIRCADIAN CLOCK | CRYPTOCHROME | HOMOZYGOSITY | GENETIC-BASIS | MENTAL-RETARDATION | CONSANGUINEOUS FAMILIES | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | NORMATIVE VALUES | DEGRADATION | OSCILLATION | REVEALS
Journal Article
Neuropediatrics, ISSN 0174-304X, 10/2019, Volume 50, Issue 5, pp. 308 - 312
Abstract Mutations that disrupt the TBC1D24 presynaptic protein have been implicated in various neurological disorders including epilepsy, chronic... 
Short Communication | genetics | myoclonus | PEDIATRICS | infancy | EPILEPSY | cerebellum | CLINICAL NEUROLOGY | episodic ataxia
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 10/2018, Volume 103, Issue 4, pp. 568 - 578
Journal Article