Neurogenetics

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Celia’s encephalopathy and c.974dupG in BSCL2 gene: a hidden change in a known variant
Neurogenetics - - 2019
Sofía Sánchez-Iglesias, Melissa Crocker, Mar O’Callaghan, Alejandra Darling, Angels García-Cazorla, Rosario Domingo-Jiménez, Ana Castro, Antía Fernández-Pombo, Álvaro Ruibal, Pablo Aguiar, Miguel Garrido-Pumar, Antonio Rodríguez-Núñez, Julián Álvarez-Escudero, Rebecca J. Brown, David Araújo-Vilar
Celia’s encephalopathy (progressive encephalopathy with/without lipodystrophy (PELD)) is a childhood neurodegenerative disorder with a fatal prognosis before the age of 10, due to the variant c.985C>T in the BSCL2 gene that causes a cryptic splicing site leading to skipping of exon 7. For years, different authors have reported cases of congenital generalized lipodystrophy due to the variant c.974d...... hiện toàn bộ
Expansion of the spectrum of TUBB4A-related disorders: a new phenotype associated with a novel mutation in the TUBB4A gene
Neurogenetics - Tập 15 - Trang 107-113 - 2014
Lubov Blumkin, Ayelet Halevy, Dominique Ben-Ami-Raichman, Dvir Dahari, Ami Haviv, Cohen Sarit, Dorit Lev, Marjo S. van der Knaap, Tally Lerman-Sagie, Esther Leshinsky-Silver
Mutations in the TUBB4A gene have been identified so far in two neurodegenerative disorders with extremely different clinical features and course: whispering dysphonia, also known as dystonia type 4 (DYT4), and hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). We describe a patient with slowly progressive spastic paraparesis, segmental dystonia, intellectual disability, beh...... hiện toàn bộ
Progressive retinal atrophy in Schapendoes dogs: mutation of the newly identified CCDC66 gene
Neurogenetics - Tập 11 - Trang 163-174 - 2009
Gabriele Dekomien, Conni Vollrath, Elisabeth Petrasch-Parwez, Michael H. Boevé, Denis A. Akkad, Wanda M. Gerding, Jörg T. Epplen
Canine generalized progressive retinal atrophy (gPRA) is characterized by continuous degeneration of photoreceptor cells leading to night blindness and progressive vision loss. Until now, mutations in 11 genes have been described that account for gPRA in dogs, mostly following an autosomal recessive inheritance mode. Here, we describe a gPRA locus comprising the newly identified gene coiled-coil d...... hiện toàn bộ
PARK20 caused by SYNJ1 homozygous Arg258Gln mutation in a new Italian family
Neurogenetics - Tập 15 - Trang 183-188 - 2014
Simone Olgiati, Anna De Rosa, Marialuisa Quadri, Chiara Criscuolo, Guido J. Breedveld, Marina Picillo, Sabina Pappatà, Mario Quarantelli, Paolo Barone, Giuseppe De Michele, Vincenzo Bonifati
SYNJ1 has been recently identified by two independent groups as the gene defective in a novel form of autosomal recessive, early-onset atypical parkinsonism (PARK20). Two consanguineous families were initially reported (one of Sicilian and one of Iranian origins), with the same SYNJ1 homozygous mutation (c.773G > A, p.Arg258Gln) segregating with a similar phenotype of early-onset ...... hiện toàn bộ
Experiences in the molecular genetic and histopathological evaluation of calpainopathies
Neurogenetics - Tập 23 - Trang 103-114 - 2022
Berk Ozyilmaz, Ozgur Kirbiyik, Taha R. Ozdemir, Ozge Kaya Ozer, Yasar B. Kutbay, Kadri M. Erdogan, Merve Saka Guvenc, Şener Arıkan, Tuba Sozen Turk, Murat Yıldırım Kale, Irem Fatma Uludag, Figen Baydan, Filiz Sertpoyraz, Pinar Gencpinar, Gulden Diniz
Calpainopathy is mainly characterized by symmetric and progressive weakness of proximal muscles. Several reports showed that the most common LGMD subtype is LGMDR1 or calpainopathy, which had previously been defined as LGMD2A. Until now, more than 500 likely pathogenic/pathogenic variants in the CAPN3 gene have been reported. However, a clear genotype–phenotype association had not yet been establi...... hiện toàn bộ
The thermolabile variant of methylenetetrahydrofolate reductase (MTHFR) is not a major risk factor for neural tube defect in American Caucasians
Neurogenetics - - 1997
Marcy C. Speer, Gordon Worley, Joanne Mackey, Elizabeth C. Melvin, W. Jerry Oakes, Timothy M. George
A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects
Neurogenetics - Tập 17 - Trang 173-178 - 2016
David B. Beck, Megan T. Cho, Francisca Millan, Carin Yates, Mark Hannibal, Bridget O’Connor, Marwan Shinawi, Anne M. Connolly, Darrel Waggoner, Sara Halbach, Brad Angle, Victoria Sanders, Yufeng Shen, Kyle Retterer, Amber Begtrup, Renkui Bai, Wendy K. Chung
Exome sequencing is an effective way to identify genetic causes of etiologically heterogeneous conditions such as developmental delay and intellectual disabilities. Using exome sequencing, we have identified four patients with similar phenotypes of developmental delay, intellectual disability, failure to thrive, hypotonia, ataxia, and tooth enamel defects who all have the same de novo R331W missen...... hiện toàn bộ
Refining the phenotype associated with CASC5 mutation
Neurogenetics - Tập 17 - Trang 71-78 - 2015
Abdelkrim Saadi, Florine Verny, Karine Siquier-Pernet, Christine Bole-Feysot, Patrick Nitschke, Arnold Munnich, Myriam Abada-Dendib, Malika Chaouch, Marc Abramowicz, Laurence Colleaux
Autosomal recessive primary microcephaly is a neurodevelopmental disorder characterized by congenitally reduced head circumference by at least two standard deviations (SD) below the mean for age and gender. It is associated with nonprogressive mental retardation of variable degree, minimal neurological deficit with no evidence of architectural anomalies of the brain. So far, 12 genetic loci (MCPH1...... hiện toàn bộ
A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity
Neurogenetics - Tập 20 - Trang 129-143 - 2019
David B. Beck, T. Subramanian, S. Vijayalingam, Uthayashankar R. Ezekiel, Sandra Donkervoort, Michele L. Yang, Holly A. Dubbs, Xilma R. Ortiz-Gonzalez, Shenela Lakhani, Devorah Segal, Margaret Au, John M. Graham, Sumit Verma, Darrel Waggoner, Marwan Shinawi, Carsten G. Bönnemann, Wendy K. Chung, G. Chinnadurai
We previously reported a pathogenic de novo p.R342W mutation in the transcriptional corepressor CTBP1 in four independent patients with neurodevelopmental disabilities [1]. Here, we report the clinical phenotypes of seven additional individuals with the same recurrent de novo CTBP1 mutation. Within this cohort, we identified consistent CtBP1-related phenotypes of intellectual disability, ataxia, h...... hiện toàn bộ
Multiple sclerosis risk loci correlate with cervical cord atrophy and may explain the course of disability
Neurogenetics - - 2015
Denis A. Akkad, Barbara Bellenberg, Sarika Esser, Florian Weiler, Jörg T. Epplen, Ralf Gold, Carsten Lukas, Aiden Haghikia
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