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Neuroscience x Science and Mathematics x Clinical Cytogenetics and Molecular Genetics x clear all

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Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes

Emma S. Reid, Apostolos Papandreou, Suzanne Drury, Christopher Boustred, Wyatt W. Yue, Yehani Wedatilake, Clare Beesley, Thomas S. Jacques, Glenn Anderson, Lara Abulhoul, Alex Broomfield, Maureen Cleary, Stephanie Grunewald, Sophia M. Varadkar, Nick Lench, Shamima Rahman, Paul Gissen, Peter T. Clayton and Philippa B. Mills.

in Brain

November 2016; p ublished online September 2016 .

Journal Article. Subjects: Clinical Cytogenetics and Molecular Genetics; Molecular and Cellular Systems. 5960 words.

Neurometabolic disorders are markedly heterogeneous, both clinically and genetically, and are characterized by variable neurological dysfunction accompanied by suggestive neuroimaging or...

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ALS5/SPG11/<i>KIAA1840</i> mutations cause autosomal recessive axonal Charcot–Marie–Tooth disease

Celeste Montecchiani, Lucia Pedace, Temistocle Lo Giudice, Antonella Casella, Marzia Mearini, Fabrizio Gaudiello, José L. Pedroso, Chiara Terracciano, Carlo Caltagirone, Roberto Massa, Peter H. St George-Hyslop, Orlando G. P. Barsottini, Toshitaka Kawarai and Antonio Orlacchio.

in Brain

January 2016; p ublished online November 2015 .

Journal Article. Subjects: Clinical Cytogenetics and Molecular Genetics; Molecular and Cellular Systems. 6530 words.

Charcot–Marie–Tooth disease is a group of hereditary peripheral neuropathies that share clinical characteristics of progressive distal muscle weakness and atrophy, foot deformities, distal...

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Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia

Marie Coutelier, Cyril Goizet, Alexandra Durr, Florence Habarou, Sara Morais, Alexandre Dionne-Laporte, Feifei Tao, Juliette Konop, Marion Stoll, Perrine Charles, Maxime Jacoupy, Raphaël Matusiak, Isabel Alonso, Chantal Tallaksen, Mathilde Mairey, Marina Kennerson, Marion Gaussen, Rebecca Schule, Maxime Janin, Fanny Morice-Picard, Christelle M. Durand, Christel Depienne, Patrick Calvas, Paula Coutinho, Jean-Marie Saudubray, Guy Rouleau, Alexis Brice, Garth Nicholson, Frédéric Darios, José L. Loureiro, Stephan Zuchner, Chris Ottolenghi, Fanny Mochel and Giovanni Stevanin.

in Brain

August 2015; p ublished online May 2015 .

Journal Article. Subjects: Clinical Cytogenetics and Molecular Genetics; Molecular and Cellular Systems. 8232 words.

Hereditary spastic paraplegias are heterogeneous neurological disorders characterized by a pyramidal syndrome with symptoms predominantly affecting the lower limbs. Some limited pyramidal...

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<i>BCL11B</i> mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells

Davor Lessel, Christina Gehbauer, Nuria C Bramswig, Caroline Schluth-Bolard, Sathish Venkataramanappa, Koen L I van Gassen, Maja Hempel, Tobias B Haack, Anja Baresic, Casie A Genetti, Mariana F A Funari, Ivana Lessel, Leonie Kuhlmann, Ruth Simon, Pentao Liu, Jonas Denecke, Alma Kuechler, Ineke de Kruijff, Moneef Shoukier, Monkol Lek, Thomas Mullen, Hermann-Josef Lüdecke, Antonio M Lerario, Robin Kobbe, Thorsten Krieger, Benedicte Demeer, Marine Lebrun, Boris Keren, Caroline Nava, Julien Buratti, Alexandra Afenjar, Marwan Shinawi, Maria J Guillen Sacoto, Julie Gauthier, Fadi F Hamdan, Anne-Marie Laberge, Philippe M Campeau, Raymond J Louie, Sara S Cathey, Immo Prinz, Alexander A L Jorge, Paulien A Terhal, Boris Lenhard, Dagmar Wieczorek, Tim M Strom, Pankaj B Agrawal, Stefan Britsch, Eva Tolosa and Christian Kubisch.

in Brain

August 2018; p ublished online July 2018 .

Journal Article. Subjects: Clinical Cytogenetics and Molecular Genetics; Molecular and Cellular Systems. 6812 words.

Abstract

The transcription factor BCL11B is essential for development of the nervous and the immune system, and Bcl11b deficiency results in structural brain...

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Biallelic <i>UFM1</i> and <i>UFC1</i> mutations expand the essential role of ufmylation in brain development

Michael S Nahorski, Sateesh Maddirevula, Ryosuke Ishimura, Saud Alsahli, Angela F Brady, Anaïs Begemann, Tsunehiro Mizushima, Francisco J Guzmán-Vega, Miki Obata, Yoshinobu Ichimura, Hessa S Alsaif, Shams Anazi, Niema Ibrahim, Firdous Abdulwahab, Mais Hashem, Dorota Monies, Mohamed Abouelhoda, Brian F Meyer, Majid Alfadhel, Wafa Eyaid, Markus Zweier, Katharina Steindl, Anita Rauch, Stefan T Arold, C Geoffrey Woods, Masaaki Komatsu and Fowzan S Alkuraya.

in Brain

July 2018; p ublished online June 2018 .

Journal Article. Subjects: Clinical Cytogenetics and Molecular Genetics; Molecular and Cellular Systems. 5953 words.

Abstract

The post-translational modification of proteins through the addition of UFM1, also known as ufmylation, plays a critical developmental role as...

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CCDC88A mutations cause PEHO-like syndrome in humans and mouse

Michael S. Nahorski, Masato Asai, Emma Wakeling, Alasdair Parker, Naoya Asai, Natalie Canham, Susan E. Holder, Ya-Chun Chen, Joshua Dyer, Angela F. Brady, Masahide Takahashi and C. Geoffrey Woods.

in Brain

April 2016; p ublished online February 2016 .

Journal Article. Subjects: Clinical Cytogenetics and Molecular Genetics; Molecular and Cellular Systems. 4457 words.

Progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy (PEHO) syndrome is a rare Mendelian phenotype comprising severe retardation, early onset epileptic seizures, optic...

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Clinical, genetic and neuropathological characterization of spinocerebellar ataxia type 37

Marc Corral-Juan, Carmen Serrano-Munuera, Alberto Rábano, Daniel Cota-González, Anna Segarra-Roca, Lourdes Ispierto, Antonio Tomás Cano-Orgaz, Astrid D Adarmes, Carlota Méndez-del-Barrio, Silvia Jesús, Pablo Mir, Victor Volpini, Ramiro Alvarez-Ramo, Ivelisse Sánchez and Antoni Matilla-Dueñas.

in Brain

July 2018; p ublished online June 2018 .

Journal Article. Subjects: Clinical Cytogenetics and Molecular Genetics; Molecular and Cellular Systems. 9250 words.

Abstract

The autosomal dominant spinocerebellar ataxias (SCAs) consist of a highly heterogeneous group of rare movement disorders characterized by progressive...

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Common polygenic variation enhances risk prediction for Alzheimer’s disease

Valentina Escott-Price, Rebecca Sims, Christian Bannister, Denise Harold, Maria Vronskaya, Elisa Majounie, Nandini Badarinarayan, Kevin Morgan, Peter Passmore, Clive Holmes, John Powell, Carol Brayne, Michael Gill, Simon Mead, Alison Goate, Carlos Cruchaga, Jean-Charles Lambert, Cornelia van Duijn, Wolfgang Maier, Alfredo Ramirez, Peter Holmans, Lesley Jones, John Hardy, Sudha Seshadri, Gerard D. Schellenberg, Philippe Amouyel and Julie Williams.

in Brain

December 2015; p ublished online October 2015 .

Journal Article. Subjects: Clinical Cytogenetics and Molecular Genetics; Molecular and Cellular Systems. 8055 words.

The identification of subjects at high risk for Alzheimer’s disease is important for prognosis and early intervention. We investigated the polygenic architecture of Alzheimer’s disease and...

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Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism

Darius Ebrahimi-Fakhari, Afshin Saffari, Lara Wahlster, Jenny Lu, Susan Byrne, Georg F. Hoffmann, Heinz Jungbluth and Mustafa Sahin.

in Brain

February 2016; p ublished online December 2015 .

Journal Article. Subjects: Clinical Cytogenetics and Molecular Genetics; Molecular and Cellular Systems. 13803 words.

Single gene disorders of the autophagy pathway are an emerging, novel and diverse group of multisystem diseases in children. Clinically, these disorders prominently affect the central...

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<i>De novo</i> mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the <i>CACNA1G</i> calcium channel gene

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 and Vincent Cantagrel.

in Brain

July 2018; p ublished online June 2018 .

Journal Article. Subjects: Clinical Cytogenetics and Molecular Genetics; Molecular and Cellular Systems. 8511 words.

Abstract

Cerebellar atrophy is a key neuroradiological finding usually associated with cerebellar ataxia and cognitive development defect in children. Unlike...

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