| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Claudia Ciaccio, Emanuela Leonardi, Roberta Polli, Alessandra Murgia, Stefano D'Arrigo, Elisa Granocchio, Luisa Chiapparini, Chiara Pantaleoni, Silvia Esposit. A Missense De Novo Variant in the CASK-interactor KIRREL3 Gene Leading to Neurodevelopmental Disorder with Mild Cerebellar Hypoplasia. Neuropediatrics. vol 52. issue 6. 2021-11-19. PMID:33853164. |
a missense de novo variant in the cask-interactor kirrel3 gene leading to neurodevelopmental disorder with mild cerebellar hypoplasia. |
2021-11-19 |
2023-08-13 |
Not clear |
| Sara Nuovo, Valentina Baglioni, Roberta De Mori, Silvia Tardivo, Caterina Caputi, Monia Ginevrino, Alessia Micalizzi, Laura Masuelli, Giulia Federici, Antonella Casella, Elisa Lorefice, Danila Anello, Manuela Tolve, Donatella Farini, Enrico Bertini, Ginevra Zanni, Lorena Travaglini, Gessica Vasco, Claudio Sette, Carla Carducci, Enza M Valente, Vincenzo Leuzz. Clinical variability at the mild end of BRAT1-related spectrum: Evidence from two families with genotype-phenotype discordance. Human mutation. 2021-11-15. PMID:34747546. |
biallelic mutations in the brat1 gene, encoding brca1-associated atm activator 1, result in variable phenotypes, from rigidity and multifocal seizure syndrome, lethal neonatal to neurodevelopmental disorder, and cerebellar atrophy with or without seizures, without obvious genotype-phenotype associations. |
2021-11-15 |
2023-08-13 |
Not clear |
| Sara Nuovo, Valentina Baglioni, Roberta De Mori, Silvia Tardivo, Caterina Caputi, Monia Ginevrino, Alessia Micalizzi, Laura Masuelli, Giulia Federici, Antonella Casella, Elisa Lorefice, Danila Anello, Manuela Tolve, Donatella Farini, Enrico Bertini, Ginevra Zanni, Lorena Travaglini, Gessica Vasco, Claudio Sette, Carla Carducci, Enza M Valente, Vincenzo Leuzz. Clinical variability at the mild end of BRAT1-related spectrum: Evidence from two families with genotype-phenotype discordance. Human mutation. 2021-11-15. PMID:34747546. |
our findings broaden the allelic and clinical spectrum of brat1-related disease, which should be suspected in presence of nonprogressive cerebellar signs, even without a neurodevelopmental disorder. |
2021-11-15 |
2023-08-13 |
Not clear |
| Ana Victoria Marco Hernández, Alfonso Caro, Alejandro Montoya Filardi, Miguel Tomás Vila, Sandra Monfort, Beatriz Beseler Soto, Juan José Nieto-Barceló, Francisco Martíne. Extending the clinical phenotype of SPTAN1: From DEE5 to migraine, epilepsy, and subependymal heterotopias without intellectual disability. American journal of medical genetics. Part A. 2021-09-30. PMID:34590414. |
mutations in sptan1 gene, encoding the nonerythrocyte αii-spectrin, are responsible for a severe developmental and epileptic encephalopathy (dee5) and a wide spectrum of neurodevelopmental disorders, as epilepsy with or without intellectual disability (id) or id with cerebellar syndrome. |
2021-09-30 |
2023-08-13 |
Not clear |
| Daniel G Calame, Isabella Herman, Jawid M Fatih, Haowei Du, Gulsen Akay, Shalini N Jhangiani, Zeynep Coban-Akdemir, Dianna M Milewicz, Richard A Gibbs, Jennifer E Posey, Dana Marafi, Jill V Hunter, Yuxin Fan, James R Lupski, Christina Y Miyak. Risk of sudden cardiac death in EXOSC5-related disease. American journal of medical genetics. Part A. vol 185. issue 8. 2021-08-25. PMID:34089229. |
more recently, exosc5 (mim *606492) was found to underlie an autosomal recessive neurodevelopmental disorder characterized by developmental delay, hypotonia, cerebellar abnormalities, and dysmorphic facies. |
2021-08-25 |
2023-08-13 |
Not clear |
| Leslie E Sanderson, Kristina Lanko, Maysoon Alsagob, Rawan Almass, Nada Al-Ahmadi, Maryam Najafi, Mohammad A Al-Muhaizea, Hamad Alzaidan, Hesham AlDhalaan, Elena Perenthaler, Herma C van der Linde, Anita Nikoncuk, Nikolas A Kühn, Dinu Antony, Tarek Mustafa Owaidah, Salmo Raskin, Luana Gabriela Dalla Rosa Vieira, Romulo Mombach, Najmeh Ahangari, Tainá Regina Damaceno Silveira, Najim Ameziane, Arndt Rolfs, Aljohara Alharbi, Raghda M Sabbagh, Khalid AlAhmadi, Bashayer Alawam, Hazem Ghebeh, Aljouhra AlHargan, Anoud A Albader, Faisal S Binhumaid, Ewa Goljan, Dorota Monies, Osama M Mustafa, Mazhor Aldosary, Albandary AlBakheet, Banan Alyounes, Faten Almutairi, Ali Al-Odaib, Durdane Bekar Aksoy, A Nazli Basak, Robin Palvadeau, Daniah Trabzuni, Jill A Rosenfeld, Ehsan Ghayoor Karimiani, Brian F Meyer, Bedri Karakas, Futwan Al-Mohanna, Stefan T Arold, Dilek Colak, Reza Maroofian, Henry Houlden, Aida M Bertoli-Avella, Miriam Schmidts, Tahsin Stefan Barakat, Tjakko J van Ham, Namik Kay. Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking. Brain : a journal of neurology. vol 144. issue 3. 2021-08-13. PMID:33764426. |
all affected individuals presented with a progressive neurodevelopmental disorder consisting of cognitive impairment, cerebellar atrophy/hypoplasia, motor dysfunction with ataxia and dystonia, and nystagmus. |
2021-08-13 |
2023-08-13 |
human |
| Sara Nuovo, Vesna Brankovic, Caterina Caputi, Antonella Casella, Vincenzo Nigro, Vincenzo Leuzzi, Enza Maria Valent. Novel unconventional variants expand the allelic spectrum of OPHN1 gene. American journal of medical genetics. Part A. vol 185. issue 5. 2021-08-09. PMID:33638601. |
mutations in the ophn1 gene cause a rare x-linked recessive neurodevelopmental disorder characterized by intellectual disability, variably associated with cerebellar hypoplasia and distinctive facial appearance. |
2021-08-09 |
2023-08-13 |
Not clear |
| Georges Dellatolas, Hugo Câmara-Cost. The role of cerebellum in the child neuropsychological functioning. Handbook of clinical neurology. vol 173. 2021-07-08. PMID:32958180. |
the chapter also contains reviews of the cerebellar mutism/posterior fossa syndrome, reported cognitive associations with the development of the cerebellum in typically developing children and subjects born preterm, and the role of the cerebellum in neurodevelopmental disorders such as autism spectrum disorders and developmental dyslexia. |
2021-07-08 |
2023-08-13 |
human |
| Médéric Jeanne, Hélène Demory, Aubin Moutal, Marie-Laure Vuillaume, Sophie Blesson, Rose-Anne Thépault, Sylviane Marouillat, Judith Halewa, Saskia M Maas, M Mahdi Motazacker, Grazia M S Mancini, Marjon A van Slegtenhorst, Avgi Andreou, Helene Cox, Julie Vogt, Jason Laufman, Natella Kostandyan, Davit Babikyan, Miroslava Hancarova, Sarka Bendova, Zdenek Sedlacek, Kimberly A Aldinger, Elliott H Sherr, Emanuela Argilli, Eleina M England, Séverine Audebert-Bellanger, Dominique Bonneau, Estelle Colin, Anne-Sophie Denommé-Pichon, Brigitte Gilbert-Dussardier, Bertrand Isidor, Sébastien Küry, Sylvie Odent, Richard Redon, Rajesh Khanna, William B Dobyns, Stéphane Bézieau, Jérôme Honnorat, Bernhard Lohkamp, Annick Toutain, Frédéric Laumonnie. Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities. American journal of human genetics. vol 108. issue 5. 2021-06-30. PMID:33894126. |
missense variants in dpysl5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities. |
2021-06-30 |
2023-08-13 |
Not clear |
| Eleonora Bonaventura, Giulia Purpura, Rosa Pasquariello, Sara Da Prato, Maria Chiara Di Lieto, Jessica Barsotti, Paola Bruna Paolicelli, Giovanni Cioni, Francesca Tinell. Complex neurodevelopmental disorder in a preterm child with unilateral cerebellar hemorrhage. Applied neuropsychology. Child. 2021-06-14. PMID:34100324. |
complex neurodevelopmental disorder in a preterm child with unilateral cerebellar hemorrhage. |
2021-06-14 |
2023-08-13 |
Not clear |
| G Zanni, F D'Abrusco, F Nicita, S Cascioli, M Tosi, F Corrente, V Serpieri, R Ciccone, M Motta, G Vasco, R Carsetti, E M Valente, E Bertin. PIGQ-Related Glycophosphatidylinositol Deficiency Associated with Nonprogressive Congenital Ataxia. Cerebellum (London, England). 2021-06-05. PMID:34089469. |
we detected a novel homozygous variant in pigq (nm_004204.5: c.1631dupa; p.tyr544fs*79) by wes trio-analysis of a male patient with a neurodevelopmental disorder characterized by nonprogressive congenital ataxia, intellectual disability, generalized epilepsy, and cerebellar atrophy. |
2021-06-05 |
2023-08-13 |
Not clear |
| Fatma Kurt Colak, Naz Guleray, Ebru Azapagasi, Mutlu Uysal Yazıcı, Erhan Aksoy, Nesrin Ceyla. An intronic variant in BRAT1 creates a cryptic splice site, causing epileptic encephalopathy without prominent rigidity. Acta neurologica Belgica. vol 120. issue 6. 2021-05-31. PMID:33040300. |
since the discovery of brat1 variants as the molecular etiology of lethal neonatal rigidity and multifocal seizure syndrome (rmfsl, omim 614498), these variants have also been identified in patients with milder clinical forms including neurodevelopmental disorder with cerebellar atrophy and with or without seizures (nedcas, omim 618056), epilepsy of infancy with migrating focal seizures (eimfs), and congenital ataxia (ca). |
2021-05-31 |
2023-08-13 |
Not clear |
| Romina Romaniello, Chiara Gagliardi, Patrizia Desalvo, Livio Provenzi, Roberta Battini, Enrico Bertini, Maria Teresa Bonati, Marilena Briguglio, Stefano D'Arrigo, Maria Teresa Dotti, Lucio Giordano, Claudio Macaluso, Isabella Moroni, Sara Nuovo, Margherita Santucci, Sabrina Signorini, Franco Stanzial, Enza Maria Valente, Renato Borgatt. Challenges and resources in adult life with Joubert syndrome: issues from an international classification of functioning (ICF) perspective. Disability and rehabilitation. 2021-05-19. PMID:34010585. |
joubert syndrome (js) is a rare inherited neurodevelopmental disorder defined by a characteristic cerebellar and brainstem malformation (i.e. |
2021-05-19 |
2023-08-13 |
Not clear |
| Ilana Chilton, Volkan Okur, Giuseppina Vitiello, Angelo Selicorni, Milena Mariani, Alice Goldenberg, Thomas Husson, Dominique Campion, Klaske D Lichtenbelt, Koen van Gassen, Michelle Steinraths, Jennifer Rice, Elizabeth R Roeder, Rebecca O Littlejohn, Myriam Srour, Guillaume Sebire, Andrea Accogli, Delphine Héron, Solveig Heide, Caroline Nava, Christel Depienne, Austin Larson, Dmitriy Niyazov, Meron Azage, George Hoganson, Jennifer Burton, Eric T Rush, Janda L Jenkins, Carol J Saunders, Isabelle Thiffault, Joseph T Alaimo, Julie Fleischer, Daniel Groepper, Karen W Gripp, Wendy K Chun. De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype. American journal of medical genetics. Part A. vol 182. issue 5. 2021-01-12. PMID:32031333. |
we identified 12 heterozygous predicted deleterious variants in cdc42bpb (9 missense, 2 frameshift, and 1 nonsense) in 14 unrelated individuals (confirmed de novo in 11/14) with neurodevelopmental disorders including developmental delay/intellectual disability, autism, hypotonia, and structural brain abnormalities including cerebellar vermis hypoplasia and agenesis/hypoplasia of the corpus callosum. |
2021-01-12 |
2023-08-13 |
Not clear |
| Gaetano Terrone, Michele Pinelli, Pia Bernardo, Elena Parrini, Floriana Imperati, Nicola Brunetti-Pierri, Ennio Del Giudic. Intrafamilial variability in SPTAN1-related disorder: From benign convulsions with mild gastroenteritis to developmental encephalopathy. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. vol 28. 2021-01-12. PMID:32811770. |
mutations in sptan1 gene are responsible for a wide spectrum of neurodevelopmental disorders including early-onset epileptic encephalopathy with progressive brain atrophy, severe intellectual disability with cerebellar malformations, and relatively milder phenotypes with or without epilepsy. |
2021-01-12 |
2023-08-13 |
Not clear |
| Ruxandra Bachmann-Gagescu, Jennifer C Dempsey, Sara Bulgheroni, Maida L Chen, Stefano D'Arrigo, Ian A Glass, Theo Heller, Elise Héon, Friedhelm Hildebrandt, Nirmal Joshi, Dana Knutzen, Hester Y Kroes, Stephen H Mack, Sara Nuovo, Melissa A Parisi, Joseph Snow, Angela C Summers, Jordan M Symons, Wadih M Zein, Eugen Boltshauser, John A Sayer, Meral Gunay-Aygun, Enza Maria Valente, Dan Dohert. Healthcare recommendations for Joubert syndrome. American journal of medical genetics. Part A. vol 182. issue 1. 2020-12-28. PMID:31710777. |
joubert syndrome (js) is a recessive neurodevelopmental disorder defined by a characteristic cerebellar and brainstem malformation recognizable on axial brain magnetic resonance imaging as the "molar tooth sign". |
2020-12-28 |
2023-08-13 |
Not clear |
| Simona Caldani, Moetez Baghdadi, Ana Moscoso, Eric Acquaviva, Christophe-Loïc Gerard, Vincenzo Marcelli, Hugo Peyre, Paola Atzori, Richard Delorme, Maria Pia Bucc. Vestibular Functioning in Children with Neurodevelopmental Disorders Using the Functional Head Impulse Test. Brain sciences. vol 10. issue 11. 2020-12-01. PMID:33233781. |
several studies in children with neurodevelopmental disorders (ndds) including autism spectrum disorders (asds), reading impairment, or attention deficit/hyperactive disorder (adhd) pointed toward a potential dysfunction of the vestibular system, specifically in its complex relationship with the cerebellum. |
2020-12-01 |
2023-08-13 |
Not clear |
| Nicole J Van Bergen, Yiran Guo, Noraldin Al-Deri, Zhanna Lipatova, Daniela Stanga, Sarah Zhao, Rakhilya Murtazina, Valeriya Gyurkovska, Davut Pehlivan, Tadahiro Mitani, Alper Gezdirici, Jayne Antony, Felicity Collins, Mary J H Willis, Zeynep H Coban Akdemir, Pengfei Liu, Jaya Punetha, Jill V Hunter, Shalini N Jhangiani, Jawid M Fatih, Jill A Rosenfeld, Jennifer E Posey, Richard A Gibbs, Ender Karaca, Sean Massey, Thisara G Ranasinghe, Patrick Sleiman, Chris Troedson, James R Lupski, Michael Sacher, Nava Segev, Hakon Hakonarson, John Christodoulo. Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability. Brain : a journal of neurology. vol 143. issue 1. 2020-08-18. PMID:31794024. |
we undertook exome sequencing in three unrelated families of caucasian, turkish and french-canadian ethnicities with seven affected children that showed features of early-onset seizures, developmental delay, microcephaly, sensorineural deafness, spastic quadriparesis and progressive cortical and cerebellar atrophy in an effort to determine the genetic aetiology underlying neurodevelopmental disorders. |
2020-08-18 |
2023-08-13 |
human |
| Aaron Sathyanesan, Vittorio Gall. Cerebellar contribution to locomotor behavior: A neurodevelopmental perspective. Neurobiology of learning and memory. vol 165. 2020-07-30. PMID:29723669. |
here we review evidence on cerebellar contribution to adaptive locomotor behavior, highlighting methodologies employed to quantify and categorize behavior at different developmental stages, with the ultimate goal of following the course of early behavioral alterations in neurodevelopmental disorders. |
2020-07-30 |
2023-08-13 |
human |
| Filomena Altieri, Angela D'Anzi, Francesco Martello, Silvia Tardivo, Iolanda Spasari, Daniela Ferrari, Laura Bernardini, Giuseppe Lamorte, Gianluigi Mazzoccoli, Enza Maria Valente, Angelo Luigi Vescovi, Jessica Rosat. Production and characterization of human induced pluripotent stem cells (iPSC) CSSi007-A (4383) from Joubert Syndrome. Stem cell research. vol 38. 2020-04-21. PMID:31202121. |
joubert syndrome (js) is an autosomal recessive neurodevelopmental disorder, characterized by congenital cerebellar and brainstem defects, belonging to the group of disorders known as ciliopathies, which are caused by mutations in genes encoding proteins of the primary cilium and basal body. |
2020-04-21 |
2023-08-13 |
human |