Results 81 to 90 of about 42,506 (235)

Spinocerebellar ataxia type 10 in the South of Brazil: the Amerindian-Belgian connection

Arquivos de Neuro-Psiquiatria, 2015
Spinocerebellar ataxia type 10 (SCA10) is a rare form of autosomal dominant ataxia found predominantly in patients from Latin America with Amerindian ancestry.
Hélio Afonso Ghizoni Teive, Adriana Moro, Mariana Moscovich, Walter Oleskho Arruda, Renato Puppi Munhoz, Salmo Raskin, Gladys Mary Ghizoni Teive, Norberto Dallabrida, Tetsuo Ashizawa   +8 more
doaj   +1 more source

DNA strand break repair and neurodegeneration. [PDF]

, 2013
A number of DNA repair disorders are known to cause neurological problems. These disorders can be broadly characterised into early developmental, mid-to-late developmental or progressive.
Abraham, Ahel, Alano, Alderton, Alter, Barbi, Barlow, Barnes, Bayatti, Bendixen, Bohr, Bootsma, Breslin, Brown, Buck, Buis, Caldecott, Caldecott, Caldecott, Cantoni, Chappell, Clements, Cortes Ledesma, Date, de Boer, de Boer, de Klein, de Vries, Delaval, Derheimer, Donahue, Durocher, El-Khamisy, El-Khamisy, El-Khamisy, Eliasson, Fattah, Frank, Frank, Frappart, Gao, Gao, Gatz, Goodship, Griffith, Gruber, Gueven, Henning, Hoeijmakers, Hoeijmakers, Jackson, Jeggo, Jilani, Kathe, Katyal, Keith W. Caldecott, Koch, Kuzminov, Lakin, Lakshmipathy, LaMonica, Le Ber, Lee, Lee, Lee, Lehmann, Letinic, Li, Licht, Lieber, Lindahl, Ljungman, Ljungman, Loizou, Luo, Mallery, Mao, Matsuura, Mayne, McKinnon, McKinnon, Mellon, Mischo, Mitchell, Moreira, Moreira, Moreno-Herrero, Morris, Moynahan, Mu, Murai, Murai, Murga, Nakane, Nance, Nilsen, Nussenzweig, Ogi, Okano, Orii, Osterod, Ouyang, O’Driscoll, O’Driscoll, O’Driscoll, Paula-Barbosa, Paull, Puebla-Osorio, Resnick, Revet, Reynolds, Reynolds, Rouse, Sanai, Schumacher, Shechter, Shen, Shiloh, Shull, Sidman, Skourti-Stathaki, Sleeth, Sonoda, Stefanini, Stewart, Stiff, Stuart L. Rulten, Sugasawa, Syljuasen, Takashima, Taylor, Tebbs, Theunissen, Thorslund, Uziel, van der Burg, van der Horst, Varon, Verhagen, Vinters, Virag, Vrouwe, Waltes, Weeda, Weterings, Whitehouse, Williams, Williams, Xu, Yu, Yu, Yuce, Zecevic, Zecevic, Zhou, Zhou, Zhu, Zou   +157 more
core   +1 more source

PLD3 and spinocerebellar ataxia [PDF]

Brain, 2018
sponsorship: Funding was provided by the Alzheimer Forschung Initiative e.V. (M.D.) and the Deutsche Forschungsgemeinschaft (GRK 1459) (P.S.). AC.G. is supported by the Hans & Ilse Breuer foundation. D.M. is supported by National Institutes of Health (NIH) grant R21AI126011. (Alzheimer Forschung Initiative e.V., Deutsche Forschungsgemeinschaft|GRK 1459,
Gonzalez, Adriana Carolina, Stroobants, Stijn, Reisdorf, Pia, Gavin, Amanda Lee, Nemazee, David, Schwudke, Dominik, D'Hooge, Rudi, Saftig, Paul, Damme, Markus   +8 more
openaire   +4 more sources

A muscular dystrophy associated with bi‐allelic LEMD2 variants: Expanding the genotype of nuclear envelopathies

Brain Pathology, EarlyView.
Proteomics‐guided exome re‐analysis identifies bi‐allelic variants in the nuclear envelope LEMD2 gene, expanding its phenotypic spectrum. Created in BioRender. Pauper, M. (2026) https://BioRender.com/xamvo92.
Marc Pauper, Heike Kölbel, Iakowos Karakesisoglou, Anne Schänzer, Johann Böhm, Rachel Thompson, Nicolai Kohlschmidt, Bernd Ringel, Gisèle Bonne, Katja Neuhoff, Andrea Gangfuß, Ozge Aksel Kilicarslan, Sergi Beltran Agullo, Andreas Hentschel, Ulrike Schara‐Schmidt, Hanns Lochmüller, Kiran Polavarapu, Andreas Roos   +17 more
wiley   +1 more source

Epilepsy and Spinocerebellar Ataxia

Pediatric Neurology Briefs, 2007
A large consanguinous family from Saudi Arabia with 4 affected children presenting with an autosomal recessive ataxia, generalized tonic-clonic epilepsy and mental retardation is reported from the Institut de Genetique, Universite Louis Pasteur, Illkirch,
J Gordon Millichap
doaj   +1 more source

The DNA/RNA autophagy protein SIDT2 as a novel neuropathological hallmark in Huntington disease

Brain Pathology, EarlyView.
SIDT2‐immunoreactive inclusions are observed in the striatum, cerebral cortex, and hypothalamus in HD cases with different Vonsattel grades, and the frequency of SIDT2‐immunoreactive inclusions is associated with longer CAG repeats in the huntingtin gene.
Sanaz Gabery, Sofia Bergh, Chrisovalantou Huridou, Rachel Y. Cheong, Barbara Baldo, Paul Günther Scheunemann, Marie‐Louisa Schoebel, Linda Holmquist Mengelbier, Elisabet Englund, Catriona McLean, Carsten Saft, Deniz Kirik, Maria Björkqvist, Glenda Halliday, Elisabeth Petrasch‐Parwez, Huu Phuc Nguyen, Jonasz Jeremiasz Weber, Åsa Petersén   +17 more
wiley   +1 more source

Clinical profile and genetic correlation of patients with spinocerebellar ataxia: A study from a tertiary care centre in Eastern India

Annals of Indian Academy of Neurology, 2014
Background: Progressive cerebellar ataxia inherited by autosomal dominant transmission is known as Spino Cerebellar Ataxia (SCA). Aims and Objectives: To look for various clinical profile and molecular genetics of patients with SCAs and their phenotype ...
Debabrata Pulai, Deb Shankar Guin, Kalyan B Bhattacharyya, Goutam Ganguly, Anindita Joardar, Sarnava Roy, Atanu Biswas, Alak Pandit, Arijit Roy, Asit Kumar Senapati   +9 more
doaj   +1 more source

Impact of PNKP mutations associated with microcephaly, seizures and developmental delay on enzyme activity and DNA strand break repair [PDF]

, 2012
Microcephaly with early-onset, intractable seizures and developmental delay (MCSZ) is a hereditary disease caused by mutations in polynucleotide kinase/phosphatase (PNKP), a DNA strand break repair protein with DNA 5'-kinase and DNA 3'-phosphatase ...
Alexandra K. Walker, Beckman, Bernstein, Breslin, Breslin, Brodsky, Buck, Buck, Caldecott, Caldecott, Chappell, Christopher A. Walsh, Date, Dingwall, Dobson, Edward C. Gilmore, El-Khamisy, Evans, Garces, Hsiang, Interthal, John J. Reynolds, Karimi-Busheri, Keith W. Caldecott, Koch, Kouzminova, Kuzminov, Lee, Lindahl, Loizou, McCullough, Moreira, Riballo, Segal-Raz, Shen, Sprules, Takashima, Wang, Wang, Ward, Ward, Whitehouse   +41 more
core   +1 more source

Regulation of PHOX2B gene expression by the long non‐coding natural antisense RNA PHOX2B‐AS1

The FEBS Journal, EarlyView.
PHOX2B is a transcription factor essential for autonomic nervous system development. We identify and characterize PHOX2B‐AS1, a human long non‐coding antisense transcript at the PHOX2B locus, along with its murine counterpart. Our findings reveal bidirectional transcription and reciprocal regulation: PHOX2B activates PHOX2B‐AS1, whereas PHOX2B‐AS1 ...
Simona Di Lascio, Ana Lucia Cuadros Gamboa, Martina Bertocchi, Filippo Chiesa, Francesca Cargnin, Ettore Mosca, Paride Pelucchi, Viviana Tritto, Stefania Corti, Isabella Ceccherini, Paola Riva, Roberta Benfante, Diego Fornasari   +12 more
wiley   +1 more source

Early-onset phenotype in a patient with an intermediate allele and a large SCA1 expansion: a case report

BMC Neurology
Background Spinocerebellar ataxia type 1, is a rare neurodegenerative disorder with autosomal dominant inheritance belonging to the polyglutamine diseases.
Guillaume Baille, Nicolas Geoffre, Anna Wissocq, Pauline Planté-Bordeneuve, Eugénie Mutez, Vincent Huin   +5 more
doaj   +1 more source