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Letters to the Editor. Could Surgical Societies do more to increase the appeal of a surgical career?
Sir,
Recent years have seen a decline in applications
for core surgical training.1 In February
2019, the Cambridge University Surgical
Society investigated factors deterring
clinical students from pursuing a surgical
career with...
Hereditary spastic paraplegia
Hereditary spastic paraplegia (HSP) describes a heterogeneous group of genetic neurodegenerative diseases characterised by progressive spasticity of the lower limbs. The pathogenic mechanism, associated clinical features, and...
A new quantitative 3D approach to imaging of structural joint disease.
Imaging of joints with 2D radiography has not been able to detect therapeutic success in research trials while 3D imaging, used regularly in the clinic, has not been approved for this purpose. We present a new 3D approach to...
A new quantitative 3D approach to imaging of structural joint disease
Imaging of joints with 2D radiography has not been able to detect therapeutic success in research trials while 3D imaging, used regularly in the clinic, has not been approved for this purpose. We present a new 3D approach to...
Connectivity Gradient in the Human Left Inferior Frontal Gyrus
Takuro Nakae, Riki Matsumoto, Takeharu Kunieda, Yoshiki Arakawa, Katsuya Kobayashi, Akihiro Shimotake, Yukihiro Yamao, Takayuki Kikuchi, Toshihiko Aso, Masao Matsuhashi, Kazumichi Yoshida, Akio Ikeda, Ryosuke Takahashi, Matthew A Lambon Ralph, Susumu Miyamoto
Mar 11, 2020
In the dual-stream model of language processing, the exact connectivity of the ventral stream to the anterior temporal lobe remains elusive. To investigate the connectivity between the inferior frontal gyrus (IFG) and the...
Integrating protein networks and machine learning for disease stratification in the Hereditary Spastic Paraplegias.
Nikoleta Vavouraki, James E Tomkins, Eleanna Kara, Henry Houlden, John Hardy, Marcus J Tindall, Patrick A Lewis, Claudia Manzoni
Jul 20, 2021
The Hereditary Spastic Paraplegias are a group of neurodegenerative diseases characterized by spasticity and weakness in the lower body. Owing to the combination of genetic diversity and variable clinical presentation, the...
Evidence for a deep, distributed and dynamic code for animacy in human ventral anterior temporal cortex.
Timothy T Rogers, Christopher R Cox, Qihong Lu, Akihiro Shimotake, Takayuki Kikuchi, Takeharu Kunieda, Susumu Miyamoto, Ryosuke Takahashi, Akio Ikeda, Riki Matsumoto, Matthew A Lambon Ralph
Jan 06, 2022
Evidence for a deep, distributed and dynamic code for animacy in human ventral anterior temporal cortex.
Timothy T Rogers, Christopher R Cox, Qihong Lu, Akihiro Shimotake, Takayuki Kikuchi, Takeharu Kunieda, Susumu Miyamoto, Ryosuke Takahashi, Akio Ikeda, Riki Matsumoto, Matthew Lambon Ralph
Oct 28, 2021
Functional Studies of Missense TREM2 Mutations in Human Stem Cell-Derived Microglia.
Philip W Brownjohn, James Smith, Ravi Solanki, Ebba Lohmann, Henry Houlden, John Hardy, Sabine Dietmann, Frederick J Livesey
Jun 04, 2018
The derivation of microglia from human stem cells provides systems for understanding microglial biology and enables functional studies of disease-causing mutations. We describe a robust method for the derivation of human...
Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project
Thomas Bourinaris, Damian Smedley, Valentina Cipriani, Isabella Sheikh, Alkyoni Athanasiou-Fragkouli, Patrick Chinnery, Huw Morris, Raquel Real, Victoria Harrison, Evan Reid, Nicholas Wood, Jana Vandrovcova, Henry Houlden, Arianna Tucci
Dec 01, 2020
Abstract: Hereditary spastic paraplegia (HSP) is a group of heterogeneous inherited degenerative disorders characterized by lower limb spasticity. Fifty percent of HSP patients remain yet genetically undiagnosed. The 100,000...
The Parkinson's disease-linked proteins Fbxo7 and Parkin interact to mediate mitophagy.
Victoria S Burchell, David E Nelson, Alvaro Sanchez-Martinez, Marta Delgado-Camprubi, Rachael M Ivatt, Joe H Pogson, Suzanne J Randle, Selina Wray, Patrick A Lewis, Henry Houlden, Andrey Y Abramov, John Hardy, Nicholas W Wood, Alexander J Whitworth, Heike Laman, Helene Plun-Favreau
Aug 08, 2017
Compelling evidence indicates that two autosomal recessive Parkinson's disease genes, PINK1 (PARK6) and Parkin (PARK2), cooperate to mediate the autophagic clearance of damaged mitochondria (mitophagy). Mutations in the F-box...
Animals Animals Genetically Modified Carbonyl Cyanide m-Chlorophenyl Hydrazone Cell Line Tumor Cells Cultured Drosophila F-Box Proteins Female Fertility FIBROBLASTS Humans Male Microtubule-Associated Proteins Mitochondria Mitochondrial Degradation Mutation Parkinson Disease Protein Transport Proton Ionophores RNA Small Interfering Time Factors Ubiquitin-Protein Ligases Ubiquitination
Proximity extension assay testing reveals novel diagnostic biomarkers of atypical parkinsonian syndromes.
Edwin Jabbari, John Woodside, Tong Guo, Nadia K Magdalinou, Viorica Chelban, Dilan Athauda, Andrew J Lees, Thomas Foltynie, Henry Houlden, Alistair Church, Michele Tm Hu, James B Rowe, Henrik Zetterberg, Huw R Morris
Sep 06, 2019
OBJECTIVE: The high degree of clinical overlap between atypical parkinsonian syndromes (APS) and Parkinson's disease (PD) makes diagnosis challenging. We aimed to identify novel diagnostic protein biomarkers of APS using...
Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project.
Thomas Bourinaris, Damian Smedley, Valentina Cipriani, Isabella Sheikh, Alkyoni Athanasiou-Fragkouli, Patrick Chinnery, Huw Morris, Raquel Real, Victoria Harrison, Evan Reid, Nicholas Wood, Genomics England Research Consortium, Jana Vandrovcova, Henry Houlden, Arianna Tucci
Sep 15, 2021
Hereditary spastic paraplegia (HSP) is a group of heterogeneous inherited degenerative disorders characterized by lower limb spasticity. Fifty percent of HSP patients remain yet genetically undiagnosed. The 100,000 Genomes...
Astrocyte layers in the mammalian cerebral cortex revealed by a single-cell in situ transcriptomic map.
Omer Ali Bayraktar, Theresa Bartels, Staffan Holmqvist, Vitalii Kleshchevnikov, Araks Martirosyan, Damon Polioudakis, Lucile Ben Haim, Adam MH Young, Mykhailo Y Batiuk, Kirti Prakash, Alexander Brown, Kenny Roberts, Mercedes F Paredes, Riki Kawaguchi, John H Stockley, Khalida Sabeur, Sandra M Chang, Eric Huang, Peter Hutchinson, Erik M Ullian, Martin Hemberg, Giovanni Coppola, Matthew G Holt, Daniel H Geschwind, David H Rowitch
Jun 18, 2020
Clinical, pathological and functional characterization of riboflavin-responsive neuropathy.
Andreea Manole, Zane Jaunmuktane, Iain Hargreaves, Marthe HR Ludtmann, Vincenzo Salpietro, Oscar D Bello, Simon Pope, Amelie Pandraud, Alejandro Horga, Renata S Scalco, Abi Li, Balasubramaniem Ashokkumar, Charles M Lourenço, Simon Heales, Rita Horvath, Patrick F Chinnery, Camilo Toro, Andrew B Singleton, Thomas S Jacques, Andrey Y Abramov, Francesco Muntoni, Michael G Hanna, Mary M Reilly, Tamas Revesz, Dimitri M Kullmann, James EC Jepson, Henry Houlden
Mar 07, 2019
Brown-Vialetto-Van Laere syndrome represents a phenotypic spectrum of motor, sensory, and cranial nerve neuropathy, often with ataxia, optic atrophy and respiratory problems leading to ventilator-dependence. Loss-of-function...
Brown-Vialetto-Van Laere syndrome SLC52A2 SLC52A3 Riboflavin Adolescent Animals Atrophy Brain Bulbar Palsy Progressive Child Child Preschool Citrate (si)-Synthase Drosophila melanogaster Electron Transport Complex I Electron Transport Complex II Electron Transport Complex III Female FIBROBLASTS Gene Knockdown Techniques Hearing Loss Sensorineural Humans In Vitro Techniques Infant Locomotion longevity Male Membrane Transport Proteins Microscopy Electron Neural Pathways Receptors G-Protein-Coupled Riboflavin Spinal Cord Spinocerebellar Tracts Spinothalamic Tracts Young Adult
Combining biomarkers for prognostic modelling of Parkinson's disease.
Nirosen Vijiaratnam, Michael Lawton, Amanda J Heslegrave, Tong Guo, Manuela Tan, Edwin Jabbari, Raquel Real, John Woodside, Katherine Grosset, Viorica Chelban, Dilan Athauda, Christine Girges, Roger A Barker, John Hardy, Nicholas Wood, Henry Houlden, Nigel Williams, Yoav Ben-Shlomo, Henrik Zetterberg, Donald G Grosset, Thomas Foltynie, Huw R Morris, PRoBaND clinical consortium
May 19, 2022
BACKGROUND: Patients with Parkinson's disease (PD) have variable rates of progression. More accurate prediction of progression could improve selection for clinical trials. Although some variance in clinical progression can be...
Diagnosis Across the Spectrum of Progressive Supranuclear Palsy and Corticobasal Syndrome.
Edwin Jabbari, Negin Holland, Viorica Chelban, P Simon Jones, Ruth Lamb, Charlotte Rawlinson, Tong Guo, Alyssa A Costantini, Manuela MX Tan, Amanda J Heslegrave, Federico Roncaroli, Johannes C Klein, Olaf Ansorge, Kieren SJ Allinson, Zane Jaunmuktane, Janice L Holton, Tamas Revesz, Thomas T Warner, Andrew J Lees, Henrik Zetterberg, Lucy L Russell, Martina Bocchetta, Jonathan D Rohrer, Nigel M Williams, Donald G Grosset, David J Burn, Nicola Pavese, Alexander Gerhard, Christopher Kobylecki, P Nigel Leigh, Alistair Church, Michele Tm Hu, John Woodside, Henry Houlden, James B Rowe, Huw R Morris
Feb 26, 2020
IMPORTANCE: Atypical parkinsonian syndromes (APS), including progressive supranuclear palsy (PSP), corticobasal syndrome (CBS), and multiple system atrophy (MSA), may be difficult to distinguish in early stages and are often...
Expanding the Spectrum of AP5Z1-Related Hereditary Spastic Paraplegia (HSP-SPG48)
Marianthi Breza, Jennifer Hirst, Viorica Chelban, Guillaume Banneau, Laurène Tissier, Bophara Kol, Thomas Bourinaris, Samia A Said, Yann Péréon, Anna Heinzmann, Rabab Debs, Raul Juntas-Morales, Victoria G Martinez, Jean P Camdessanche, Clarisse Scherer-Gagou, Jean-Médard Zola, Alkyoni Athanasiou-Fragkouli, Stephanie Efthymiou, George Vavougios, Georgios Velonakis, Maria Stamelou, John Tzartos, Constantin Potagas, Thomas Zambelis, Caterina Mariotti, Craig Blackstone, Jana Vandrovcova, Theodoros Mavridis, Chrisoula Kartanou, Leonidas Stefanis, Nicholas Wood, Georgia Karadima, Eric LeGuern, Georgios Koutsis, Henry Houlden, Giovanni Stevanin
Jan 06, 2021
Biallelic mutations in AP5Z1 are known to cause a rare, autosomal recessive, complex form of hereditary spastic paraplegia (HSP) referred to as SPG48 (MIM#613647)[1]. To date, only 11 SPG48 cases have been reported. The clinical...
Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome.
Sandra Donkervoort, Payam Mohassel, Lucia Laugwitz, Maha S Zaki, Erik-Jan Kamsteeg, Reza Maroofian, Katherine R Chao, Corien C Verschuuren-Bemelmans, Veronka Horber, Annemarie JM Fock, Riley M McCarty, Minal S Jain, Victoria Biancavilla, Grace McMacken, Matthew Nalls, Nicol C Voermans, Hasnaa M Elbendary, Molly Snyder, Chunyu Cai, Tanya J Lehky, Valentina Stanley, Susan T Iannaccone, A Reghan Foley, Hanns Lochmüller, Joseph Gleeson, Henry Houlden, Tobias B Haack, Rita Horvath, Carsten G Bönnemann
Aug 18, 2020
Synaptotagmins are integral synaptic vesicle membrane proteins that function as calcium sensors and regulate neurotransmitter release at the presynaptic nerve terminal. Synaptotagmin-2 (SYT2), is the major isoform expressed at...
Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders
Katherine R Schon, Rita Horvath, Wei Wei, Claudia Calabrese, Arianna Tucci, Kristina Ibañez, Thiloka Ratnaike, Robert DS Pitceathly, Enrico Bugiardini, Rosaline Quinlivan, Michael G Hanna, Emma Clement, Emma Ashton, John A Sayer, Paul Brennan, Dragana Josifova, Louise Izatt, Carl Fratter, Victoria Nesbitt, Timothy Barrett, Dominic J McMullen, Audrey Smith, Charulata Deshpande, Sarah F Smithson, Richard Festenstein, Natalie Canham, Mark Caulfield, Henry Houlden, Shamima Rahman, Patrick F Chinnery, Genomics England Research Consortium
Oct 12, 2021
OBJECTIVE: To determine whether whole genome sequencing can be used to define the molecular basis of suspected mitochondrial disease. DESIGN: Cohort study. SETTING: National Health Service, England, including secondary and...
TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease.
Lindsey Van Haute, Emily O'Connor, Héctor Díaz-Maldonado, Benjamin Munro, Kiran Polavarapu, Daniella H Hock, Gautham Arunachal, Alkyoni Athanasiou-Fragkouli, Mainak Bardhan, Magalie Barth, Dominique Bonneau, Nicola Brunetti-Pierri, Gerarda Cappuccio, Nikeisha J Caruana, Natalia Dominik, Himanshu Goel, Guy Helman, Henry Houlden, Guy Lenaers, Karine Mention, David Murphy, Bevinahalli Nandeesh, Catarina Olimpio, Christopher A Powell, Veeramani Preethish-Kumar, Vincent Procaccio, Rocio Rius, Pedro Rebelo-Guiomar, Cas Simons, Seena Vengalil, Maha S Zaki, Alban Ziegler, David R Thorburn, David A Stroud, Reza Maroofian, John Christodoulou, Claes Gustafsson, Atchayaram Nalini, Hanns Lochmüller, Michal Minczuk, Rita Horvath
Mar 26, 2023
Mutations in the mitochondrial or nuclear genomes are associated with a diverse group of human disorders characterized by impaired mitochondrial respiration. Within this group, an increasing number of mutations have been...
Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia.
Karin Tuschl, Esther Meyer, Leonardo E Valdivia, Ningning Zhao, Chris Dadswell, Alaa Abdul-Sada, Christina Y Hung, Michael A Simpson, WK Chong, Thomas S Jacques, Randy L Woltjer, Simon Eaton, Allison Gregory, Lynn Sanford, Eleanna Kara, Henry Houlden, Stephan M Cuno, Holger Prokisch, Lorella Valletta, Valeria Tiranti, Rasha Younis, Eamonn R Maher, John Spencer, Ania Straatman-Iwanowska, Paul Gissen, Laila AM Selim, Guillem Pintos-Morell, Wifredo Coroleu-Lletget, Shekeeb S Mohammad, Sangeetha Yoganathan, Russell C Dale, Maya Thomas, Jason Rihel, Olaf A Bodamer, Caroline A Enns, Susan J Hayflick, Peter T Clayton, Philippa B Mills, Manju A Kurian, Stephen W Wilson
Jun 14, 2016
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion.
Andrea Cortese, Stefano Tozza, Wai Yan Yau, Salvatore Rossi, Sarah J Beecroft, Zane Jaunmuktane, Zoe Dyer, Gianina Ravenscroft, Phillipa J Lamont, Stuart Mossman, Andrew Chancellor, Thierry Maisonobe, Yann Pereon, Cecile Cauquil, Silvia Colnaghi, Giulia Mallucci, Riccardo Curro, Pedro J Tomaselli, Gilbert Thomas-Black, Roisin Sullivan, Stephanie Efthymiou, Alexander M Rossor, Matilde Laurá, Menelaos Pipis, Alejandro Horga, James Polke, Diego Kaski, Rita Horvath, Patrick F Chinnery, Wilson Marques, Cristina Tassorelli, Grazia Devigili, Lea Leonardis, Nick W Wood, Adolfo Bronstein, Paola Giunti, Stephan Züchner, Tanya Stojkovic, Nigel Laing, Richard H Roxburgh, Henry Houlden, Mary M Reilly
Mar 12, 2020
Ataxia, causing imbalance, dizziness and falls, is a leading cause of neurological disability. We have recently identified a biallelic intronic AAGGG repeat expansion in replication factor complex subunit 1 (RFC1) as the cause...
Chronic Cough Sensory Neuropathy Rfc1 Repeat Expansion Cerebellar Ataxia neuropathy Vestibular Areflexia Syndrome (Canvas)
Published by: Brain : a journal of neurology
Germline selection shapes human mitochondrial DNA diversity.
Wei Wei, Salih Tuna, Michael J Keogh, Katherine R Smith, Timothy J Aitman, Phil L Beales, David L Bennett, Daniel P Gale, Maria AK Bitner-Glindzicz, Graeme C Black, Paul Brennan, Perry Elliott, Frances A Flinter, R Andres Floto, Henry Houlden, Melita Irving, Ania Koziell, Eamonn R Maher, Hugh S Markus, Nicholas W Morrell, William G Newman, Irene Roberts, John A Sayer, Kenneth GC Smith, Jenny C Taylor, Hugh Watkins, Andrew R Webster, Andrew OM Wilkie, Catherine Williamson, NIHR BioResource–Rare Diseases, 000 Genomes Project–Rare Diseases Pilot 100, Sofie Ashford, Christopher J Penkett, Kathleen E Stirrups, Augusto Rendon, Willem H Ouwehand, John R Bradley, F Lucy Raymond, Mark Caulfield, Ernest Turro, Patrick F Chinnery
Jun 03, 2019
TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease
Lindsey Van Haute, Emily O’Connor, Héctor Díaz-Maldonado, Benjamin Munro, Kiran Polavarapu, Daniella H Hock, Gautham Arunachal, Alkyoni Athanasiou-Fragkouli, Mainak Bardhan, Magalie Barth, Dominique Bonneau, Nicola Brunetti-Pierri, Gerarda Cappuccio, Nikeisha J Caruana, Natalia Dominik, Himanshu Goel, Guy Helman, Henry Houlden, Guy Lenaers, Karine Mention, David Murphy, Bevinahalli Nandeesh, Catarina Olimpio, Christopher A Powell, Veeramani Preethish-Kumar, Vincent Procaccio, Rocio Rius, Pedro Rebelo-Guiomar, Cas Simons, Seena Vengalil, Maha S Zaki, Alban Ziegler, David R Thorburn, David A Stroud, Reza Maroofian, John Christodoulou, Claes Gustafsson, Atchayaram Nalini, Hanns Lochmüller, Michal Minczuk, Rita Horvath
Feb 23, 2023
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