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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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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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<i>Caenorhabditis elegans</i> 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. 12848 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

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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