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Molecular and Cellular Systems 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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Age-Related and Noise-Induced Hearing Loss

Ruili Xie, Tessa-Jonne F. Ropp, Michael R. Kasten and Paul B. Manis.

in The Oxford Handbook of the Auditory Brainstem

September 2019; p ublished online October 2018 .

Article. Subjects: Sensory and Motor Systems; Molecular and Cellular Systems. 11975 words.

Hearing loss generally occurs in the auditory periphery but leads to changes in the central auditory system. Noise-induced hearing loss (NIHL) and age-related hearing loss (ARHL) affect...

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ALS5/SPG11/KIAA1840 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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BCL11B 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 UFM1 and UFC1 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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Caenorhabditis elegans Olfaction

Douglas K. Reilly and Jagan Srinivasan.

in Oxford Research Encyclopedia of Neuroscience

P ublished online December 2017 .

Article. Subjects: Molecular and Cellular Systems; Sensory and Motor Systems; Invertebrate Neurobiology. 12849 words.

To survive, animals must properly sense their surrounding environment. The types of sensation that allow for detecting these changes can be categorized as tactile, thermal, aural, or...

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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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Central Nervous System Pain Pathways

Andrew J. Todd and Fan Wang.

in The Oxford Handbook of the Neurobiology of Pain

P ublished online July 2018 .

Article. Subjects: Molecular and Cellular Systems. 13119 words.

Nociceptive primary afferents detect stimuli that are normally perceived as painful, and these afferents form synapses in the dorsal horn of the spinal cord and the spinal trigeminal...

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Cephalochordate Nervous System

Simona Candiani and Mario Pestarino.

in Oxford Research Encyclopedia of Neuroscience

P ublished online February 2018 .

Article. Subjects: Development of the Nervous System; Molecular and Cellular Systems; Invertebrate Neurobiology. 10868 words.

The central and peripheral nervous systems of amphioxus adults and larvae are characterized by morphofunctional features relevant to understanding the origins and evolutionary history of...

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Changes in the Inferior Colliculus Associated with Hearing Loss

Alan R. Palmer and Joel I. Berger.

in The Oxford Handbook of the Auditory Brainstem

September 2019; p ublished online April 2018 .

Article. Subjects: Molecular and Cellular Systems; Sensory and Motor Systems. 10079 words.

The inferior colliculus is an important auditory relay center that undergoes fundamental changes following hearing loss, whether noise induced (NIHL) or age related (ARHL). These changes...

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Chemosensory Transduction in Arthropods

Monika Stengl.

in The Oxford Handbook of Invertebrate Neurobiology

April 2019; p ublished online February 2017 .

Article. Subjects: Invertebrate Neurobiology; Molecular and Cellular Systems. 16010 words.

Reception of chemicals via olfaction and gustation are prerequisites to find, distinguish, and recognize food and mates and to avoid dangers. Several receptor gene superfamilies are...

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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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The Cochlear Nuclei

Donata Oertel, Xiao-Jie Cao and Alberto Recio-Spinoso.

in The Oxford Handbook of the Auditory Brainstem

September 2019; p ublished online September 2018 .

Article. Subjects: Sensory and Motor Systems; Molecular and Cellular Systems. 12611 words.

Plasticity in neuronal circuits is essential for optimizing connections as animals develop and for adapting to injuries and aging, but it can also distort the processing, as well as...

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The Cochlear Nucleus as a Generator of Tinnitus-Related Signals

J.A. Kaltenbach and D.A. Godfrey.

in The Oxford Handbook of the Auditory Brainstem

September 2019; p ublished online October 2018 .

Article. Subjects: Sensory and Motor Systems; Molecular and Cellular Systems. 15539 words.

Tinnitus most commonly begins with alterations of input from the ear resulting from cochlear trauma or overstimulation of the ear. Because the cochlear nucleus is the first processing...

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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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De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G 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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De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy

Anna Fassio, Alessandro Esposito, Mitsuhiro Kato, Hirotomo Saitsu, Davide Mei, Carla Marini, Valerio Conti, Mitsuko Nakashima, Nobuhiko Okamoto, Akgun Olmez Turker, Burcu Albuz, C Nur Semerci Gündüz, Keiko Yanagihara, Elisa Belmonte, Luca Maragliano, Keri Ramsey, Chris Balak, Ashley Siniard, Vinodh Narayanan, Chihiro Ohba, Masaaki Shiina, Kazuhiro Ogata, Naomichi Matsumoto, Fabio Benfenati and Renzo Guerrini.

in Brain

June 2018; p ublished online April 2018 .

Journal Article. Subjects: Clinical Cytogenetics and Molecular Genetics; Molecular and Cellular Systems. 8919 words.

Abstract

V-type proton (H+) ATPase (v-ATPase) is a multi-subunit proton pump that regulates pH homeostasis in all eukaryotic cells; in neurons, v-ATPase plays...

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De novo 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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