All Relations between Neurodevelopmental Disorders and cerebellum

Reference Sentence Publish Date Extraction Date Species
Beena D Agarwal, Satya Mohapatra, Sumedha Singh, Vijay Guduru, Soumya R Naya. Neonatal Joubert Syndrome With Renal Involvement and Respiratory Distress. Cureus vol 14 issue 5 2022 35698700 joubert syndrome (js)\xc2\xa0is a rare autosomal recessive neurodevelopmental disorder with characteristic clinical presentation of hyperpnea-apnea spells, hypotonia, dysmorphic facies, and nystagmus and imaging features of molar tooth sign and cerebellar vermian hypoplasia-dysplasia. 2022-06-14 2022-06-15 Not clear
Daisuke Uda, Hidehito Kondo, Koichi Tanda, Zenro Kizaki, Masashi Nishida, Hongmei Dai, Masayuki Ito. Two siblings showing a mild phenotype of Joubert syndrome with a specific CEP290 variant. Neuropediatrics vol issue 2022 35642300 joubert syndrome (js) is a genetic neurodevelopmental disorder characterized by lower brainstem dysplasia and cerebellar vermis agenesis termed molar tooth sign (mts), psychomotor retardation, abnormal respiratory pattern in infancy, and oculomotor abnormalities. 2022-06-01 2022-06-13 Not clear
Andrea Accogli, Shenzhao Lu, Ilaria Musante, Paolo Scudieri, Jill A Rosenfeld, Mariasavina Severino, Simona Baldassari, Michele Iacomino, Antonella Riva, Ganna Balagura, Gianluca Piccolo, Carlo Minetti, Denis Roberto, Fan Xia, Razaali Razak, Emily Lawrence, Mohamed Hussein, Emmanuel Yih-Herng Chang, Michelle Holick, Elisa Cal\\xc3\\xac, Emanuela Aliberto, Rosalba De-Sarro, Antonio Gambardella, Undiagnosed Diseases Network, SYNaPS Study Group, Lisa Emrick, Peter J A McCaffery, Margaret Clagett-Dame, Paul C Marcogliese, Hugo J Bellen, Seema R Lalani, Federico Zara, Pasquale Striano, Vincenzo Salpietr. Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Development. Cerebellum (London, England) vol issue 2022 35218524 in summary, our results unveil a novel human neurodevelopmental disorder due to genetic loss of nav2, highlighting a critical conserved role of the nav2 gene in brain and cerebellar development across species. 2022-02-26 2022-02-28 Not clear
Nana J Okada, Janelle Liu, Tawny Tsang, Erin Nosco, Nicole M McDonald, Kaitlin K Cummings, Jiwon Jung, Genevieve Patterson, Susan Y Bookheimer, Shulamite A Green, Shafali S Jeste, Mirella Daprett. Atypical cerebellar functional connectivity at 9 months of age predicts delayed socio-communicative profiles in infants at high and low risk for autism. Journal of child psychology and psychiatry, and allied disciplines vol issue 2021 34882790 indeed, cerebellar atypicalities are commonly reported in autism spectrum disorder (asd), a neurodevelopmental disorder characterized by socio-communicative impairments. 2021-12-09 2022-01-13 Not clear
Purvi Majethia, Michelle C Do Rosario, Parneet Kaur, Karanvir, Raagul Shankar, Suvasini Sharma, Shahyan Siddiqui, Anju Shukl. Further evidence of muscle involvement in neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy. Annals of human genetics vol issue 2021 34878169 trappc4-related neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy (mim# 618741) is a recently described trappopathy with clinical findings of developmental delay, seizures, postnatal microcephaly, spasticity, facial dysmorphism, and cerebral and cerebellar atrophy. 2021-12-08 2022-01-13 Not clear
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 33853164 a missense de novo variant in the cask-interactor kirrel3 gene leading to neurodevelopmental disorder with mild cerebellar hypoplasia. 2021-11-19 2022-01-13 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 vol issue 2021 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 2022-01-13 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 vol issue 2021 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 2022-01-13 Not clear
Malihe Mohamadian, Pegah Ghandil, Mohsen Naseri, Afsane Bahrami, Ali Akbar Mome. A novel homozygous variant in an Iranian pedigree with cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 4. Journal of clinical laboratory analysis vol 34 issue 11 2021 33079427 cerebellar ataxia, mental retardation, and dysequilibrium (camrq) syndrome is a rare and early-onset neurodevelopmental disorder. 2021-09-07 2022-01-13 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 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 2022-01-13 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 K\\xc3\\xbchn, Dinu Antony, Tarek Mustafa Owaidah, Salmo Raskin, Luana Gabriela Dalla Rosa Vieira, Romulo Mombach, Najmeh Ahangari, Tain\\xc3\\xa1 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 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 2022-01-13 Not clear
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 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 2022-01-13 Not clear
Francesca Mattioli, Norine Voisin, Egl\\xc4\\x97 Preik\\xc5\\xa1aitien\\xc4\\x97, Irina Kozlovskaja, Vaidutis Ku\\xc4\\x8dinskas, Alexandre Reymon. Ophthalmic phenotypes associated with biallelic loss-of-function PCDH12 variants. American journal of medical genetics. Part A vol 185 issue 4 2021 33527719 individuals carrying biallelic loss-of-function mutations in pcdh12 have been reported with three different conditions: the diencephalic-mesencephalic junction dysplasia syndrome 1 (dmjds1), a disorder characterized by global developmental delay, microcephaly, dystonia, and a midbrain malformation at the diencephalic-mesencephalic junction; cerebral palsy combined with a neurodevelopmental disorder; and cerebellar ataxia with retinopathy. 2021-08-03 2022-01-13 Not clear
M\\xc3\\xa9d\\xc3\\xa9ric Jeanne, H\\xc3\\xa9l\\xc3\\xa8ne Demory, Aubin Moutal, Marie-Laure Vuillaume, Sophie Blesson, Rose-Anne Th\\xc3\\xa9pault, 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, S\\xc3\\xa9verine Audebert-Bellanger, Dominique Bonneau, Estelle Colin, Anne-Sophie Denomm\\xc3\\xa9-Pichon, Brigitte Gilbert-Dussardier, Bertrand Isidor, S\\xc3\\xa9bastien K\\xc3\\xbcry, Sylvie Odent, Richard Redon, Rajesh Khanna, William B Dobyns, St\\xc3\\xa9phane B\\xc3\\xa9zieau, J\\xc3\\xa9r\\xc3\\xb4me Honnorat, Bernhard Lohkamp, Annick Toutain, Fr\\xc3\\xa9d\\xc3\\xa9ric 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 33894126 missense variants in dpysl5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities. 2021-06-30 2022-01-13 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 vol issue 2021 34100324 complex neurodevelopmental disorder in a preterm child with unilateral cerebellar hemorrhage. 2021-06-14 2022-01-13 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) vol issue 2021 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 2022-01-13 Not clear
Fatma Kurt Colak, Naz Guleray, Ebru Azapagasi, Mutlu Uysal Yaz\\xc4\\xb1c\\xc4\\xb1, 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 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 2022-01-14 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 vol issue 2021 34010585 joubert syndrome (js) is a rare inherited neurodevelopmental disorder defined by a characteristic cerebellar and brainstem malformation (i.e. 2021-05-19 2022-01-13 Not clear
Ruxandra Bachmann-Gagescu, Jennifer C Dempsey, Sara Bulgheroni, Maida L Chen, Stefano D'Arrigo, Ian A Glass, Theo Heller, Elise H\\xc3\\xa9on, 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 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 2022-01-14 Not clear
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 issue 2020 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 2022-01-13 Not clear
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