| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Roberta Battini, Stefano D'Arrigo, Denise Cassandrini, Andrea Guzzetta, Chiara Fiorillo, Chiara Pantaleoni, Alessandro Romano, Enrico Alfei, Giovanni Cioni, Filippo M Santorell. Novel mutations in TSEN54 in pontocerebellar hypoplasia type 2. Journal of child neurology. vol 29. issue 4. 2014-11-24. PMID:23307886. |
pontocerebellar hypoplasias represent a group of neurodegenerative autosomal recessive disorders characterized by hypoplasia/atrophy of the cerebellum, hypoplastic ventral pons, and microcephaly and associated with various clinical features. |
2014-11-24 |
2023-08-12 |
Not clear |
| Alexandre Fabre, Catherine Baden. Human Mendelian diseases related to abnormalities of the RNA exosome or its cofactors. Intractable & rare diseases research. vol 3. issue 1. 2014-10-24. PMID:25343120. |
pch1's main features are atrophy of the pons and of the cerebellum, a progressive microcephaly with developmental delay and muscle atrophy secondary to spinal anterior horn cell loss. |
2014-10-24 |
2023-08-13 |
human |
| Byung Chan Lim, Seong-Keun Yoo, Seungbok Lee, Jong-Yeon Shin, Hee Hwang, Jong Hee Chae, Yong Seung Hwang, Jeong-Sun Seo, Jong-Il Kim, Ki Joong Ki. Hoyeraal-Hreidarsson syndrome with a DKC1 mutation identified by whole-exome sequencing. Gene. vol 546. issue 2. 2014-09-04. PMID:24914498. |
hoyeraal-hreidarsson syndrome is a severe multisystem disorder that is characterized by bone-marrow failure, intrauterine growth retardation, microcephaly, immunodeficiency, and cerebellar atrophy. |
2014-09-04 |
2023-08-13 |
Not clear |
| Lea Tuzovic, Lan Yu, Wenqi Zeng, Xiang Li, Hong Lu, Hsiao-Mei Lu, Kelly Df Gonzalez, Wendy K Chun. A human de novo mutation in MYH10 phenocopies the loss of function mutation in mice. Rare diseases (Austin, Tex.). vol 1. 2014-07-08. PMID:25003005. |
we used whole exome sequence analysis to investigate a possible genetic etiology for a patient with the phenotype of intrauterine growth restriction, microcephaly, developmental delay, failure to thrive, congenital bilateral hip dysplasia, cerebral and cerebellar atrophy, hydrocephalus, and congenital diaphragmatic hernia (cdh). |
2014-07-08 |
2023-08-13 |
mouse |
| Long N Nguyen, Dongliang Ma, Guanghou Shui, Peiyan Wong, Amaury Cazenave-Gassiot, Xiaodong Zhang, Markus R Wenk, Eyleen L K Goh, David L Silve. Mfsd2a is a transporter for the essential omega-3 fatty acid docosahexaenoic acid. Nature. vol 509. issue 7501. 2014-06-10. PMID:24828044. |
lipidomic analysis indicates that mfsd2a-deficient (mfsd2a-knockout) mice show markedly reduced levels of dha in brain accompanied by neuronal cell loss in hippocampus and cerebellum, as well as cognitive deficits and severe anxiety, and microcephaly. |
2014-06-10 |
2023-08-13 |
mouse |
| Xiaochang Zhang, Jiqiang Ling, Giulia Barcia, Lili Jing, Jiang Wu, Brenda J Barry, Ganeshwaran H Mochida, R Sean Hill, Jill M Weimer, Quinn Stein, Annapurna Poduri, Jennifer N Partlow, Dorothée Ville, Olivier Dulac, Tim W Yu, Anh-Thu N Lam, Sarah Servattalab, Jacqueline Rodriguez, Nathalie Boddaert, Arnold Munnich, Laurence Colleaux, Leonard I Zon, Dieter Söll, Christopher A Walsh, Rima Nabbou. Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures. American journal of human genetics. vol 94. issue 4. 2014-05-30. PMID:24656866. |
here, we report the identification of mutations in qars (encoding glutaminyl-trna synthetase [qars]) as the causative variants in two unrelated families affected by progressive microcephaly, severe seizures in infancy, atrophy of the cerebral cortex and cerebellar vermis, and mild atrophy of the cerebellar hemispheres. |
2014-05-30 |
2023-08-12 |
human |
| Tatjana Bierhals, Georg Christoph Korenke, Gökhan Uyanik, Kerstin Kutsch. Pontocerebellar hypoplasia type 2 and TSEN2: review of the literature and two novel mutations. European journal of medical genetics. vol 56. issue 6. 2013-11-04. PMID:23562994. |
pontocerebellar hypoplasias (pch) represent a heterogeneous group of autosomal recessive neurodegenerative disorders characterized by hypoplasia of the cerebellum and pons, variable cerebral involvement, microcephaly, severe delay in cognitive and motor development, and seizures. |
2013-11-04 |
2023-08-12 |
Not clear |
| Tatjana Bierhals, Georg Christoph Korenke, Gökhan Uyanik, Kerstin Kutsch. Pontocerebellar hypoplasia type 2 and TSEN2: review of the literature and two novel mutations. European journal of medical genetics. vol 56. issue 6. 2013-11-04. PMID:23562994. |
pch2 is characterized by cerebellar hypoplasia affecting the hemispheres more severely than the vermis, progressive cerebral atrophy and microcephaly, dyskinesia, seizures, and death in early childhood. |
2013-11-04 |
2023-08-12 |
Not clear |
| Tatjana Bierhals, Georg Christoph Korenke, Gökhan Uyanik, Kerstin Kutsch. Pontocerebellar hypoplasia type 2 and TSEN2: review of the literature and two novel mutations. European journal of medical genetics. vol 56. issue 6. 2013-11-04. PMID:23562994. |
brain mri confirmed microcephaly with simplified cortical gyration and revealed hypoplasia of the brainstem, cerebellum and cerebellar vermis. |
2013-11-04 |
2023-08-12 |
Not clear |
| Dimitrios I Zafeiriou, Athina Ververi, Anastasia Tsitlakidou, Athanasia Anastasiou, Euthymia Vargiam. Recurrent episodes of rhabdomyolysis in pontocerebellar hypoplasia type 2. Neuromuscular disorders : NMD. vol 23. issue 2. 2013-09-05. PMID:23177318. |
pontocerebellar hypoplasia type 2 is an autosomal recessive disorder characterized by hypoplasia and atrophy of the cerebellum and pons, leading to microcephaly, dystonia/dyskinesia, seizures, and severe cognitive impairment. |
2013-09-05 |
2023-08-12 |
Not clear |
| Jun-ichi Takanashi, Nobuhiko Okamoto, Yuto Yamamoto, Shin Hayashi, Hiroshi Arai, Yukitoshi Takahashi, Koichi Maruyama, Seiji Mizuno, Shuichi Shimakawa, Hiroaki Ono, Reiki Oyanagi, Satomi Kubo, A James Barkovich, Johji Inazaw. Clinical and radiological features of Japanese patients with a severe phenotype due to CASK mutations. American journal of medical genetics. Part A. vol 158A. issue 12. 2013-08-07. PMID:23165780. |
heterozygous loss of function mutations of cask at xp11.4 in females cause severe intellectual disability (id) and microcephaly with pontine and cerebellar hypoplasia (micpch). |
2013-08-07 |
2023-08-12 |
Not clear |
| Jun-ichi Takanashi, Nobuhiko Okamoto, Yuto Yamamoto, Shin Hayashi, Hiroshi Arai, Yukitoshi Takahashi, Koichi Maruyama, Seiji Mizuno, Shuichi Shimakawa, Hiroaki Ono, Reiki Oyanagi, Satomi Kubo, A James Barkovich, Johji Inazaw. Clinical and radiological features of Japanese patients with a severe phenotype due to CASK mutations. American journal of medical genetics. Part A. vol 158A. issue 12. 2013-08-07. PMID:23165780. |
their mris showed microcephaly, brainstem, and cerebellar hypoplasia in early infancy, and a normal or large appearing corpus callosum. |
2013-08-07 |
2023-08-12 |
Not clear |
| Cathryn Poulton, Renske Oegema, Daphne Heijsman, Jeannette Hoogeboom, Rachel Schot, Hans Stroink, Michèl A Willemsen, Frans W Verheijen, Peter van de Spek, Andreas Kremer, Grazia M S Mancin. Progressive cerebellar atrophy and polyneuropathy: expanding the spectrum of PNKP mutations. Neurogenetics. vol 14. issue 1. 2013-08-05. PMID:23224214. |
we present a neurodegenerative disorder starting in early childhood of two brothers consisting of severe progressive polyneuropathy, severe progressive cerebellar atrophy, microcephaly, mild epilepsy, and intellectual disability. |
2013-08-05 |
2023-08-12 |
Not clear |
| Rashid Saleem, Gururaj Setty, Nahin Hussai. MICrocephaly, disproportionate pontine and cerebellar hypoplasia syndrome: A clinico-radiologic phenotype linked to calcium/calmodulin-dependent serine protein kinase gene mutation. Indian journal of human genetics. vol 19. issue 1. 2013-07-31. PMID:23901204. |
microcephaly, disproportionate pontine and cerebellar hypoplasia syndrome: a clinico-radiologic phenotype linked to calcium/calmodulin-dependent serine protein kinase gene mutation. |
2013-07-31 |
2023-08-12 |
Not clear |
| Rashid Saleem, Gururaj Setty, Nahin Hussai. MICrocephaly, disproportionate pontine and cerebellar hypoplasia syndrome: A clinico-radiologic phenotype linked to calcium/calmodulin-dependent serine protein kinase gene mutation. Indian journal of human genetics. vol 19. issue 1. 2013-07-31. PMID:23901204. |
microcephaly, disproportionate pontine and cerebellar hypoplasia (micpch) syndrome, a rare x-linked disorder, generally seen in girls, is characterized by neurodevelopmental delay, microcephaly, and disproportionate pontine and cerebellar hypoplasia. |
2013-07-31 |
2023-08-12 |
Not clear |
| Rashid Saleem, Gururaj Setty, Nahin Hussai. MICrocephaly, disproportionate pontine and cerebellar hypoplasia syndrome: A clinico-radiologic phenotype linked to calcium/calmodulin-dependent serine protein kinase gene mutation. Indian journal of human genetics. vol 19. issue 1. 2013-07-31. PMID:23901204. |
we report a 2-year-old girl with severe neurodevelopmental delay, microcephaly, minimal pontine hypoplasia, cerebellar hypoplasia, and normal looking corpus callosum, with whom the conventional cytogenetic studies turned out to be normal, and an array-comparative genomic hybridization (a-cgh) analysis showed cask gene duplication at xp11.4. |
2013-07-31 |
2023-08-12 |
Not clear |
| Maria M Gramatges, Xiaodong Qi, Ghadir S Sasa, Julian J-L Chen, Alison A Bertuc. A homozygous telomerase T-motif variant resulting in markedly reduced repeat addition processivity in siblings with Hoyeraal Hreidarsson syndrome. Blood. vol 121. issue 18. 2013-07-04. PMID:23538340. |
hoyeraal hreidarsson syndrome (hhs) is a form of dyskeratosis congenita (dc) characterized by bone marrow failure, intrauterine growth retardation, developmental delay, microcephaly, cerebellar hypoplasia, immunodeficiency, and extremely short telomeres. |
2013-07-04 |
2023-08-12 |
Not clear |
| John J Reynolds, Grant S Stewar. A single strand that links multiple neuropathologies in human disease. Brain : a journal of neurology. vol 136. issue Pt 1. 2013-04-23. PMID:23365091. |
however despite these similarities, two of these disorders present with progressive cerebellar degeneration, whereas the third presents with severe microcephaly. |
2013-04-23 |
2023-08-12 |
human |
| Ganeshwaran H Mochida, Vijay S Ganesh, Maria I de Michelena, Hugo Dias, Kutay D Atabay, Katie L Kathrein, Hsuan-Ting Huang, R Sean Hill, Jillian M Felie, Daniel Rakiec, Danielle Gleason, Anthony D Hill, Athar N Malik, Brenda J Barry, Jennifer N Partlow, Wen-Hann Tan, Laurie J Glader, A James Barkovich, William B Dobyns, Leonard I Zon, Christopher A Wals. CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development. Nature genetics. vol 44. issue 11. 2013-04-04. PMID:23023333. |
here, we show that loss-of-function mutations in human chmp1a cause reduced cerebellar size (pontocerebellar hypoplasia) and reduced cerebral cortical size (microcephaly). |
2013-04-04 |
2023-08-12 |
human |
| Agnieszka Jurecka, Elzbieta Jurkiewicz, Anna Tylki-Szymansk. Magnetic resonance imaging of the brain in adenylosuccinate lyase deficiency: a report of seven cases and a review of the literature. European journal of pediatrics. vol 171. issue 1. 2012-09-10. PMID:21625931. |
we recommend performing a detailed analysis of urine and plasma purine metabolites in patients who have neurological findings, including developmental delay, microcephaly, autistic features, neonatal encephalopathy, and seizures especially if mri findings such as delayed or lack of myelination, white matter abnormal signal, and atrophy of the cerebrum and/or cerebellum are also present. |
2012-09-10 |
2023-08-12 |
Not clear |