| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Alejandro Leal, Sixto Bogantes-Ledezma, Arif B Ekici, Steffen Uebe, Christian T Thiel, Heinrich Sticht, Martin Berghoff, Corinna Berghoff, Bernal Morera, Michael Meisterernst, André Rei. The polynucleotide kinase 3'-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25. Neurogenetics. vol 19. issue 4. 2019-09-25. PMID:30039206. |
detailed clinical reassessment of the initial family and the new individuals revealed in all an adult-onset slowly progressive cmt2 associated with signs of cerebellar dysfunction such as slurred speech and oculomotor involvement, but neither microcephaly, seizures, nor developmental delay. |
2019-09-25 |
2023-08-13 |
human |
| Annalisa Agostini, Daniela Marchetti, Claudia Izzi, Isabella Cocco, Lorenzo Pinelli, Patrizia Accorsi, Rosaria Iascone Maria, Lucio Giordan. Expanding the phenotype of MED 17 mutations: Description of two new cases and review of the literature. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics. vol 177. issue 8. 2019-09-23. PMID:30345598. |
we report the case of two siblings presenting with failure to thrive in early years, progressive microcephaly, moderate intellectual disability, developmental delay, ataxic gait and seizures with an identical eeg pattern, and minimal cerebellar atrophy. |
2019-09-23 |
2023-08-13 |
Not clear |
| Annalisa Agostini, Daniela Marchetti, Claudia Izzi, Isabella Cocco, Lorenzo Pinelli, Patrizia Accorsi, Rosaria Iascone Maria, Lucio Giordan. Expanding the phenotype of MED 17 mutations: Description of two new cases and review of the literature. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics. vol 177. issue 8. 2019-09-23. PMID:30345598. |
this case along with review of the literature suggests that mutations in med17 may define a phenotype characterized by progressive microcephaly, intellectual disability, seizures, cerebellar atrophy of variable degree, and ataxia. |
2019-09-23 |
2023-08-13 |
Not clear |
| Nabil A AlMajhad, Amal M AlHashem, Inesse A Bouhjar, Brahim M Tabark. Neurological expression of an inherited translocation of chromosomal 1 and 7. Neurosciences (Riyadh, Saudi Arabia). vol 22. issue 1. 2019-07-18. PMID:28064333. |
all the patients presented with hypotonia, microcephaly, developmental delay, seizures, abnormal corpus callosum and abnormal cerebellum. |
2019-07-18 |
2023-08-13 |
Not clear |
| Jean Chemin, Karine Siquier-Pernet, Michaël Nicouleau, Giulia Barcia, Ali Ahmad, Daniel Medina-Cano, Sylvain Hanein, Nami Altin, Laurence Hubert, Christine Bole-Feysot, Cécile Fourage, Patrick Nitschké, Julien Thevenon, Marlène Rio, Pierre Blanc, Céline Vidal, Nadia Bahi-Buisson, Isabelle Desguerre, Arnold Munnich, Stanislas Lyonnet, Nathalie Boddaert, Emily Fassi, Marwan Shinawi, Holly Zimmerman, Jeanne Amiel, Laurence Faivre, Laurence Colleaux, Philippe Lory, Vincent Cantagre. De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene. Brain : a journal of neurology. vol 141. issue 7. 2019-07-17. PMID:29878067. |
they all display severe motor and cognitive impairment, cerebellar atrophy as well as variable features such as facial dysmorphisms, digital anomalies, microcephaly and epilepsy. |
2019-07-17 |
2023-08-13 |
human |
| Andrea Silveira de Souza, Patrícia Soares de Oliveira-Szjenfeld, Adriana Suely de Oliveira Melo, Luis Alberto Moreira de Souza, Alba Gean Medeiros Batista, Fernanda Tovar-Mol. Imaging findings in congenital Zika virus infection syndrome: an update. Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery. vol 34. issue 1. 2019-05-29. PMID:29181810. |
a wide range of clinico-radiological findings of congenital zikv infections were reported in the literature, such as microcephaly, overlapping sutures, cortical migrational and corpus callosum abnormalities, intracranial calcifications, ventriculomegaly, brain stem and cerebellar malformations, spinal cord involvement, and joint contractures. |
2019-05-29 |
2023-08-13 |
Not clear |
| Anju Shukla, Russell P Saneto, Malavika Hebbar, Ghayda Mirzaa, Katta M Girish. A neurodegenerative mitochondrial disease phenotype due to biallelic loss-of-function variants in PNPLA8 encoding calcium-independent phospholipase A2γ. American journal of medical genetics. Part A. vol 176. issue 5. 2019-05-20. PMID:29681094. |
using whole exome sequencing, we report two unrelated individuals with variable but similar clinical features of microcephaly, severe global developmental delay, spasticity, lactic acidosis, and progressive cerebellar atrophy with biallelic loss-of-function variants in pnpla8. |
2019-05-20 |
2023-08-13 |
Not clear |
| Leslie E W LaConte, Vrushali Chavan, Abdallah F Elias, Cynthia Hudson, Corbin Schwanke, Katie Styren, Jonathan Shoof, Fernando Kok, Sarika Srivastava, Konark Mukherje. Two microcephaly-associated novel missense mutations in CASK specifically disrupt the CASK-neurexin interaction. Human genetics. vol 137. issue 3. 2019-04-01. PMID:29426960. |
deletion and truncation mutations in the x-linked gene cask are associated with severe intellectual disability (id), microcephaly and pontine and cerebellar hypoplasia in girls (micpch). |
2019-04-01 |
2023-08-13 |
Not clear |
| Karen J Low, J Baptista, M Babiker, R Caswell, C King, S Ellard, I Scur. Hemizygous UBA5 missense mutation unmasks recessive disorder in a patient with infantile-onset encephalopathy, acquired microcephaly, small cerebellum, movement disorder and severe neurodevelopmental delay. European journal of medical genetics. vol 62. issue 2. 2019-03-15. PMID:29902590. |
hemizygous uba5 missense mutation unmasks recessive disorder in a patient with infantile-onset encephalopathy, acquired microcephaly, small cerebellum, movement disorder and severe neurodevelopmental delay. |
2019-03-15 |
2023-08-13 |
Not clear |
| Laura V Vandervore, Rachel Schot, A Jeannette M Hoogeboom, Carsten Lincke, Irenaeus F de Coo, Maarten H Lequin, Marjolein Dremmen, Leontine M A van Unen, Jasper J Saris, Anna C Jansen, Marjon A van Slegtenhorst, Martina Wilke, Grazia M S Mancin. Mutated zinc finger protein of the cerebellum 1 leads to microcephaly, cortical malformation, callosal agenesis, cerebellar dysplasia, tethered cord and scoliosis. European journal of medical genetics. vol 61. issue 12. 2019-02-22. PMID:30391508. |
mutated zinc finger protein of the cerebellum 1 leads to microcephaly, cortical malformation, callosal agenesis, cerebellar dysplasia, tethered cord and scoliosis. |
2019-02-22 |
2023-08-13 |
human |
| Laura V Vandervore, Rachel Schot, A Jeannette M Hoogeboom, Carsten Lincke, Irenaeus F de Coo, Maarten H Lequin, Marjolein Dremmen, Leontine M A van Unen, Jasper J Saris, Anna C Jansen, Marjon A van Slegtenhorst, Martina Wilke, Grazia M S Mancin. Mutated zinc finger protein of the cerebellum 1 leads to microcephaly, cortical malformation, callosal agenesis, cerebellar dysplasia, tethered cord and scoliosis. European journal of medical genetics. vol 61. issue 12. 2019-02-22. PMID:30391508. |
we report two siblings presenting with neonatal microcephaly, agenesis of the corpus callosum, brachycephaly with reduced volume of the posterior fossa, cerebellar and pons hypoplasia, scoliosis and tethered cord (closed neural tube defect). |
2019-02-22 |
2023-08-13 |
human |
| Marco Fichera, Pinella Failla, Lucia Saccuzzo, Martina Miceli, Eliana Salvo, Lucia Castiglia, Ornella Galesi, Lucia Grillo, Francesco Calì, Donatella Greco, Carmelo Amato, Corrado Romano, Maurizio Eli. Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophy. Human genetics. vol 138. issue 2. 2019-02-19. PMID:30656450. |
in this study, we investigated the genetic defects in two siblings who presented with severe dee, microcephaly, spastic tetraplegia, diffuse brain hypomyelination, cerebellar atrophy, short stature, and kyphoscoliosis. |
2019-02-19 |
2023-08-13 |
Not clear |
| Fanny Kortüm, Rami Abou Jamra, Malik Alawi, Susan A Berry, Guntram Borck, Katherine L Helbig, Sha Tang, Dagmar Huhle, Georg Christoph Korenke, Malavika Hebbar, Anju Shukla, Katta M Girisha, Maja Steinlin, Sandra Waldmeier-Wilhelm, Martino Montomoli, Renzo Guerrini, Johannes R Lemke, Kerstin Kutsch. Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9. European journal of human genetics : EJHG. vol 26. issue 5. 2019-02-14. PMID:29463858. |
individuals with pch type 9 (pch9) have a unique combination of postnatal microcephaly, hypoplastic cerebellum and pons, and hypoplastic or absent corpus callosum. |
2019-02-14 |
2023-08-13 |
Not clear |
| Tatsuharu Sato, Mitsuhiro Kato, Kaoru Moriyama, Kohei Haraguchi, Hirotomo Saitsu, Naomichi Matsumoto, Hiroyuki Moriuch. A case of tubulinopathy presenting with porencephaly caused by a novel missense mutation in the TUBA1A gene. Brain & development. vol 40. issue 9. 2018-10-30. PMID:29907476. |
tubulinopathies include a wide spectrum of disorders ranging from abnormal ocular movement to severe brain malformations, and typically present as diffuse agyria or perisylvian pachygyria with microcephaly, agenesis of the corpus callosum, and cerebellar hypoplasia. |
2018-10-30 |
2023-08-13 |
Not clear |
| Haruhiko Nakamura, Mitsugu Uematsu, Yurika Numata-Uematsu, Yu Abe, Wakaba Endo, Atsuo Kikuchi, Yusuke Takezawa, Ryo Funayama, Matsuyuki Shirota, Keiko Nakayama, Tetsuya Niihori, Yoko Aoki, Kazuhiro Haginoya, Shigeo Kur. Rett-like features and cortical visual impairment in a Japanese patient with HECW2 mutation. Brain & development. vol 40. issue 5. 2018-09-05. PMID:29395664. |
she has no acquired microcephaly, and brain magnetic resonance imaging showed non-specific mild cerebral and cerebellar atrophy without progression over time. |
2018-09-05 |
2023-08-13 |
Not clear |
| Michele Iacomino, Chiara Fiorillo, Annalaura Torella, Mariasavina Severino, Paolo Broda, Catia Romano, Raffaele Falsaperla, Giulia Pozzolini, Carlo Minetti, Pasquale Striano, Vincenzo Nigro, Federico Zar. Spinal motor neuron involvement in a patient with homozygous PRUNE mutation. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. vol 22. issue 3. 2018-08-21. PMID:29307700. |
in the last few years, whole exome sequencing (wes) allowed the identification of prune mutations in patients featuring a complex neurological phenotype characterized by severe neurodevelopmental delay, microcephaly, epilepsy, optic atrophy, and brain or cerebellar atrophy. |
2018-08-21 |
2023-08-13 |
Not clear |
| Stephanie C DeLuca, Dory A Wallace, Mary Rebekah Trucks, Konark Mukherje. A clinical series using intensive neurorehabilitation to promote functional motor and cognitive skills in three girls with CASK mutation. BMC research notes. vol 10. issue 1. 2018-08-06. PMID:29258560. |
mutations in the x-linked intellectual disability gene (xlid) cask is one etiology associated with microcephaly which produces mental retardation and microcephaly with pontine and cerebellar hypoplasia (micpch; omim# 300749). |
2018-08-06 |
2023-08-13 |
Not clear |
| Laura Avagliano, Paolo Grazioli, Milena Mariani, Gaetano P Bulfamante, Angelo Selicorni, Valentina Mass. Integrating molecular and structural findings: Wnt as a possible actor in shaping cognitive impairment in Cornelia de Lange syndrome. Orphanet journal of rare diseases. vol 12. issue 1. 2018-07-20. PMID:29162129. |
microcephaly, cerebellar hypoplasia, abnormal cortical development) in patients with cornelia de lange syndrome. |
2018-07-20 |
2023-08-13 |
Not clear |
| Maha A Al-Rakan, Manal D Abothnain, Muhammad T Alrifai, Majid Alfadhe. Extending the ophthalmological phenotype of Galloway-Mowat syndrome with distinct retinal dysfunction: a report and review of ocular findings. BMC ophthalmology. vol 18. issue 1. 2018-07-16. PMID:29929488. |
galloway-mowat syndrome (gms) is a rare autosomal recessive condition first described in 1968 and characterized by microcephaly and infantile onset of central nervous system (cns) abnormalities resulting in severely delayed psychomotor development, cerebellar atrophy, epilepsy, and ataxia, as well as renal abnormalities such as nephrotic syndrome, proteinuria, end-stage renal disease (esrd), and hiatal hernia. |
2018-07-16 |
2023-08-13 |
Not clear |
| Gudrun Schottmann, Sylvie Picker-Minh, Jana Marie Schwarz, Esther Gill, Richard J T Rodenburg, Werner Stenzel, Angela M Kaindl, Markus Schuelk. Recessive mutation in EXOSC3 associates with mitochondrial dysfunction and pontocerebellar hypoplasia. Mitochondrion. vol 37. 2018-06-19. PMID:28687512. |
we report a boy with severe muscular hypotonia, psychomotor retardation, progressive microcephaly, and cerebellar atrophy. |
2018-06-19 |
2023-08-13 |
human |