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Pathology x Neuroscience x clear all

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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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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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> point mutations in patients diagnosed with ataxic cerebral palsy

Ricardo Parolin Schnekenberg, Emma M. Perkins, Jack W. Miller, Wayne I. L. Davies, Maria Cristina D’Adamo, Mauro Pessia, Katherine A. Fawcett, David Sims, Elodie Gillard, Karl Hudspith, Paul Skehel, Jonathan Williams, Mary O’Regan, Sandeep Jayawant, Rosalind Jefferson, Sarah Hughes, Andrea Lustenberger, Jiannis Ragoussis, Mandy Jackson, Stephen J. Tucker and Andrea H. Németh.

in Brain

July 2015; p ublished online May 2015 .

Journal Article. Subjects: Clinical Cytogenetics and Molecular Genetics; Molecular and Cellular Systems. 9674 words.

Cerebral palsy is a sporadic disorder with multiple likely aetiologies, but frequently considered to be caused by birth asphyxia. Genetic investigations are rarely performed in patients...

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Dissecting the phenotypes of Dravet syndrome by gene deletion

Moran Rubinstein, Sung Han, Chao Tai, Ruth E. Westenbroek, Avery Hunker, Todd Scheuer and William A. Catterall.

in Brain

August 2015; p ublished online May 2015 .

Journal Article. Subjects: Clinical Cytogenetics and Molecular Genetics; Molecular and Cellular Systems. 8457 words.

Neurological and psychiatric syndromes often have multiple disease traits, yet it is unknown how such multi-faceted deficits arise from single mutations. Haploinsufficiency of the...

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<i>EPG5</i>-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy

Susan Byrne, Lara Jansen, Jean-Marie U-King-Im, Ata Siddiqui, Hart G. W. Lidov, Istvan Bodi, Luke Smith, Rachael Mein, Thomas Cullup, Carlo Dionisi-Vici, Lihadh Al-Gazali, Mohammed Al-Owain, Zandre Bruwer, Khalid Al Thihli, Rana El-Garhy, Kevin M. Flanigan, Kandamurugu Manickam, Erik Zmuda, Wesley Banks, Ruth Gershoni-Baruch, Hanna Mandel, Efrat Dagan, Annick Raas-Rothschild, Hila Barash, Francis Filloux, Donnell Creel, Michael Harris, Ada Hamosh, Stefan Kölker, Darius Ebrahimi-Fakhari, Georg F. Hoffmann, David Manchester, Philip J. Boyer, Adnan Y. Manzur, Charles Marques Lourenco, Daniela T. Pilz, Arveen Kamath, Prab Prabhakar, Vamshi K. Rao, R. Curtis Rogers, Monique M. Ryan, Natasha J. Brown, Catriona A. McLean, Edith Said, Ulrike Schara, Anja Stein, Caroline Sewry, Laura Travan, Frits A. Wijburg, Martin Zenker, Shehla Mohammed, Manolis Fanto, Mathias Gautel and Heinz Jungbluth.

in Brain

March 2016; p ublished online February 2016 .

Journal Article. Subjects: Clinical Cytogenetics and Molecular Genetics; Molecular and Cellular Systems. 8733 words.

Vici syndrome is a progressive neurodevelopmental multisystem disorder due to recessive mutations in the key autophagy gene EPG5. We report genetic, clinical, neuroradiological, and...

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Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome

Juan Darío Ortigoza-Escobar, Marta Molero-Luis, Angela Arias, Alfonso Oyarzabal, Niklas Darín, Mercedes Serrano, Angels Garcia-Cazorla, Mireia Tondo, María Hernández, Judit Garcia-Villoria, Mercedes Casado, Laura Gort, Johannes A. Mayr, Pilar Rodríguez-Pombo, Antonia Ribes, Rafael Artuch and Belén Pérez-Dueñas.

in Brain

January 2016; p ublished online December 2015 .

Journal Article. Subjects: Clinical Cytogenetics and Molecular Genetics; Molecular and Cellular Systems. 4230 words.

Thiamine transporter-2 deficiency is caused by mutations in the SLC19A3 gene. As opposed to other causes of Leigh syndrome, early administration of thiamine and biotin has a dramatic and...

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