Brain




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Time to treat the climate and nature crisis as one indivisible global health emergency †

Kamran Abbasi1, Parveen Ali2, Virginia Barbour3, Thomas Benfield4, Kirsten Bibbins-Domingo5, Stephen Hancocks6, Richard Horton7, Laurie Laybourn-Langton8, Robert Mash9, Peush Sahni10, Wadeia Mohammad Sharief11, Paul Yonga12 and Chris Zielinski

doi : 10.1093/brain/awad372

Brain, Volume 146, Issue 12, December 2023, Pages 4785–4787

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New insights into the genetics of stuttering

Pierre Szepetowski

doi : 10.1093/brain/awad369

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Microbial manipulation of memories and minds

Carolina Gubert1 and Anthony J. Hannan

doi : 10.1093/brain/awad368

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Neuromelanin as a nidus for neurodegeneration

Laura Volpicelli-Daley

doi : 10.1093/brain/awad385

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CGRP signalling in migraine: time to look downstream?

Dan Levy

doi : 10.1093/brain/awad390

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Observational studies of treatment effectiveness in neurology

Tomas Kalincik,1,2 Izanne Roos1,2 and Sifat Sharmin

doi : 10.1093/brain/awad278

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Predictive coding and stochastic resonance as fundamental principles of auditory phantom perception

Achim Schilling,1,2 William Sedley,3 Richard Gerum,2,4 Claus Metzner,1 Konstantin Tziridis,1 Andreas Maier,5 Holger Schulze,1 Fan-Gang Zeng,6 Karl J. Friston7 and Patrick Krauss

doi : 10.1093/brain/awad255

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Debates on the dorsomedial prefrontal/dorsal anterior cingulate cortex: insights for future research

Nicolas Clairis1 and Alizée Lopez-Persem

doi : 10.1093/brain/awad263

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How should we be using biomarkers in trials of disease modification in Parkinson’s disease?

Nirosen Vijiaratnam and Thomas Foltynie

doi : 10.1093/brain/awad265

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Speech and language markers of neurodegeneration: a call for global equity

Adolfo M. Garc?a,1,2,3,4 Jessica de Leon,5 Boon Lead Tee,1,5 Dami?n E. Blasi6,7,8 and Maria Luisa Gorno-Tempini

doi : 10.1093/brain/awad253

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Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies

Annette Lischka,1 Katja Eggermann,1 Christopher J. Record,2 Maike F. Dohrn,3,4 Petra La??uthov?,5 Florian Kraft,1 Matthias Begemann,1 Daniela Dey,1 Thomas Eggermann,

doi : 10.1093/brain/awad328

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Advanced biological ageing predicts future risk for neurological diagnoses and clinical examination findings

Christopher E. McMurran,1,2 Yunzhang Wang,1 Jonathan K. L. Mak,1 Ida K. Karlsson,1 Bowen Tang,1 Alexander Ploner,1 Nancy L. Pedersen1 and Sara H?gg

doi : 10.1093/brain/awad252

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Restoring neuronal chloride extrusion reverses cognitive decline linked to Alzheimer’s disease mutations

Iason Keramidis,1,2,† Brendan B. McAllister,3,† Julien Bourbonnais,1 Feng Wang,1,4 Dominique Isabel,1 Edris Rezaei,3 Romain Sansonetti,1 Phil Degagne,3 Justin P. Hamel,1 Mojtaba Nazari,3 Samsoon Inayat,3 Jordan C. Dudley,3 Annie Barbeau,1 Lionel Froux,1 Marie-Eve Paquet,1,5 Antoine G. Godin,1,2,6 Majid H. Mohajerani3 and Yves De Koninck

doi : 10.1093/brain/awad250

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Microbiota from Alzheimer’s patients induce deficits in cognition and hippocampal neurogenesis

Stefanie Grabrucker,1,2,† Moira Marizzoni,3,4,† Edina Silajd?ic?,5,† Nicola Lopizzo,3,6 Elisa Mombelli,3 Sarah Nicolas,1,2 Sebastian Dohm-Hansen,1,2,7 Catia Scassellati,3 Davide Vito Moretti,8 Melissa Rosa,3 Karina Hoffmann,5 John F. Cryan,1,2 Olivia F. O’Leary,1,2 Jane A. English,1,7 Aonghus Lavelle,1,2 Cora O’Neill,2,9 Sandrine Thuret,5,† Annamaria Cattaneo3,6,† and Yvonne M. Nolan1,2

doi : 10.1093/brain/awad303

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A data-driven study of Alzheimer's disease related amyloid and tau pathology progression

Leon M. Aksman,1,2 Neil P. Oxtoby,3 Marzia A. Scelsi,2 Peter A. Wijeratne,3 Alexandra L. Young,4,3 Isadora Lopes Alves,5 Lyduine E. Collij,6,7 Jacob W. Vogel,8,9 Frederik Barkhof,2,5,6 Daniel C. Alexander,3 and Andre Altmann2 for the ADNI

doi : 10.1093/brain/awad232

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Hippocampal synaptic failure is an early event in experimental parkinsonism with subtle cognitive deficit

Arantzazu Belloso-Iguerategui,1 Marta Zamarbide,1 Leyre Merino-Galan,1,2,† Tatiana Rodr?guez-Chinchilla,1 Belén Gago,3 Enrique Santamaria,4,5 Joaqu?n Fern?ndez-Irigoyen,4,5 Carl W. Cotman,6 G. Aleph Prieto,6,7 Ana Quiroga-Varela1,5,‡,§ and Mar?a Cruz Rodr?guez-Oroz

doi : 10.1093/brain/awad227

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Structural and molecular cholinergic imaging markers of cognitive decline in Parkinson’s disease

Julia Schumacher,1,2 Prabesh Kanel,3,4,5 Martin Dyrba,1 Alexander Storch,1,2 Nicolaas I. Bohnen,3,4,5,6,7 Stefan Teipel1,8 and Michel J. Grothe

doi : 10.1093/brain/awad226

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The non-specific lethal complex regulates genes and pathways genetically linked to Parkinson’s disease

Amy R. Hicks,1,2 Regina H. Reynolds,1,2,3 Benjamin O’Callaghan,1,2 Sonia Garc?a-Ruiz,1,2,3 Ana Luisa Gil-Mart?nez,1,2,3,4 Juan Bot?a,1,4 Hélène Plun-Favreau1,2,† and Mina Ryten

doi : 10.1093/brain/awad246

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Distinct tau folds initiate templated seeding and alter the post-translational modification profile

Airi Tarutani,1,2 Fuyuki Kametani,1 Marina Tahira,1 Yuko Saito,3 Mari Yoshida,4 Andrew C. Robinson,5 David M. A. Mann,5 Shigeo Murayama,3,6 Taisuke Tomita2 and Masato Hasegawa

doi : 10.1093/brain/awad272

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Neuromelanin accumulation drives endogenous synucleinopathy in non-human primates

Julia Chocarro,1,2,3 Alberto J. Rico,1,2,3 Goiaz Ariznabarreta,1,2,3 Elvira Roda,1,2,3 Adriana Honrubia,1,2,3 Mar?a Collantes,4 Iv?n Pe?uelas,4 Alfonso V?zquez,5 Ana I. Rodr?guez-Pérez,2,6 José L. Labandeira-Garc?a,2,6 Miquel Vila2,3,7,8,9 and José L. Lanciego1,

doi : 10.1093/brain/awad331

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Beta-triggered adaptive deep brain stimulation during reaching movement in Parkinson’s disease

Shenghong He,1 Fahd Baig,2 Anca Merla,3 Flavie Torrecillos,1 Andrea Perera,3 Christoph Wiest,1 Jean Debarros,1 Moaad Benjaber,1 Michael G. Hart,2 Lucia Ricciardi,2 Francesca Morgante,2 Harutomo Hasegawa,3 Michael Samuel,4 Mark Edwards,5 Timothy Denison,1 Alek Pogosyan,1 Keyoumars Ashkan,3 Erlick Pereira2 and Huiling Tan

doi : 10.1093/brain/awad233

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Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders

Reza Maroofian,1,† Rauan Kaiyrzhanov,1,† Elisa Cali,1 Mina Zamani,2,3,4 Maha S. Zaki,5 Matteo Ferla,6 Domenico Tortora,7 Saeid Sadeghian,8 Saadia Maryam Saadi,9 Uzma Abdullah,10 Ehsan Ghayoor Karimiani

doi : 10.1093/brain/awad257

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Neurological disease in xeroderma pigmentosum: prospective cohort study of its features and progression

Hector Garcia-Moreno,1 Douglas R. Langbehn,2 Adesoji Abiona,3 Isabel Garrood,3 Zofia Fleszar,1 Marta Antonia Manes,1 Ana M. Susana Morley,3,4 Emma Craythorne,3 Shehla Mohammed,3 Tanya Henshaw,3 Sally Turner,3 Harsha Naik,3 Istvan Bodi,5 Robert P. E. Sarkany,3 Hiva Fassihi,3 Alan R. Lehmann3,6 and Paola Giunti1,

doi : 10.1093/brain/awad266

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Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis

Natalia Dominik,1,† Stefania Magri,2,† Riccardo Curr?,1,3 Elena Abati,1,4 Stefano Facchini,1,5 Marinella Corbetta,2 Hannah Macpherson,1 Daniela Di Bella,2 Elisa Sarto,2 Igor Stevanovski,6,7 Sanjog R. Chintalaphani,7

doi : 10.1093/brain/awad240

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Hypomyelination, hypodontia and craniofacial abnormalities in a Polr3b mouse model of leukodystrophy

Mackenzie A. Michell-Robinson,1,2 Kristin E. N. Watt,3 Vladimir Grouza,1,4 Julia Macintosh,1,2 Maxime Pinard,5 Marius Tuznik,1,4 Xiaoru Chen,1,2 Lama Darbelli,1,2 Chia-Lun Wu,1,2 Stefanie Perrier,1,2 Daryan Chitsaz,1 Nonthué A. Uccelli,1 Hanwen Liu,1,4 Timothy C. Cox,6 Christoph W. Müller,7 Timothy E. Kennedy,1 Benoit Coulombe,5,8 David A. Rudko,1,4,9 Paul A. Trainor3,10 and Geneviève Bernard

doi : 10.1093/brain/awad249

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Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40

Angela T. Morgan,1,2,† Thomas S. Scerri,1,3,4,† Adam P. Vogel,2,5,6,† Christopher A. Reid,7,8,† Mara Quach,9 Victoria E. Jackson,3,4 Chaseley McKenzie,7 Emma L. Burrows,7 Mark F. Bennett,3,4,8 Samantha J. Turner,1 Sheena Reilly,1,10 Sarah E. Horton,1,2 Susan Block,11 Elaina Kefalianos,1,2 Carlos Frigerio-Domingues,12 Eduardo Sainz,12 Kristin A. Rigbye,8 Travis J. Featherby,7 Kay L. Richards,7 Andrew Kueh,3,4 Marco J. Herold,

doi : 10.1093/brain/awad314

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Neuromuscular disease genetics in under-represented populations: increasing data diversity

Lindsay A. Wilson,1,† William L. Macken,1,† Luke D. Perry,2,3,† Christopher J. Record,1 Katherine R. Schon,4 Rodrigo S. S. Frezatti,5 Sharika Raga,6,7 Kireshnee Naidu,8,9 ?zlem Yay?c? K?ken,10 Ipek Polat,11,12 Musambo M. Kapapa,13 Natalia Dominik,1 Stephanie Efthymiou,1

doi : 10.1093/brain/awad254

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Homomeric interactions of the MPZ Ig domain and their relation to Charcot-Marie-Tooth disease

Christopher P. Ptak,1 Tabitha A. Peterson,2 Jesse B. Hopkins,3 Christopher A. Ahern,2 Michael E. Shy4 and Robert C. Piper

doi : 10.1093/brain/awad258

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Distinct neuroinflammatory signatures exist across genetic and sporadic amyotrophic lateral sclerosis cohorts

Olivia M. Rifai,1,2,3,4,5 Judi O’Shaughnessy,2,4 Owen R. Dando,3,5,6 Alison F. Munro,7 Michael D. E. Sewell,1,3 Sharon Abrahams,8 Fergal M. Waldron,9 Christopher R. Sibley4,5,6,10 and Jenna M. Gregory

doi : 10.1093/brain/awad243

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Repeated mild traumatic brain injury triggers pathology in asymptomatic C9ORF72 transgenic mice

Aydan Kahriman,1 James Bouley,1 Idil Tuncali,2 Elif O. Dogan,1 Mariana Pereira,2 Thuyvan Luu,3 Daryl A. Bosco,1 Samer Jaber,4 Owen M. Peters,5 Robert H. Brown Jr1 and Nils Henninger

doi : 10.1093/brain/awad264

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SCN1A-deficient excitatory neuronal networks display mutation-specific phenotypes

Eline J. H. van Hugte,1,2,3 Elly I. Lewerissa,1,2 Ka Man Wu,1 Nicky Scheefhals,1 Giulia Parodi,4 Torben W. van Voorst,1,2 Sofia Puvogel,1 Naoki Kogo,1,2 Jason M. Keller,1,2 Monica Frega,1,5 Dirk Schubert,2 Helenius J. Schelhaas,6 Judith Verhoeven,3 Marian Majoie,3 Hans van Bokhoven1,2 and Nael Nadif Kasri

doi : 10.1093/brain/awad245

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Identifying sources of human interictal discharges with travelling wave and white matter propagation

C. Price Withers,1 Joshua M. Diamond,2 Braden Yang,1 Kathryn Snyder,1 Shervin Abdollahi,1 Joelle Sarlls,3 Julio I. Chapeton,2 William H. Theodore,4 Kareem A. Zaghloul2 and Sara K. Inati

doi : 10.1093/brain/awad259

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Delineating clinical and developmental outcomes in STXBP1-related disorders

Julie Xian,1,2,3,4 Kim Marie Thalwitzer,1,2,3,5 Jillian McKee,1,2,3,4 Katie Rose Sullivan,1,2,3,4 Elise Brimble,6 Eryn Fitch,1,2 Jonathan Toib,1,2 Michael C. Kaufman,1,2,3 Danielle deCampo,1,2,4 Kristin Cunningham,1,2,4 Samuel R. Pierce,1,2,4 James Goss,7 Charlene Son Rigby,7 Steffen Syrbe,5 Michael Boland,4,8 Benjamin Prosser,4,9 Nasha Fitter,6 Sarah M. Ruggiero1,2,4 and Ingo Helbig

doi : 10.1093/brain/awad287

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SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis

Arthur Stefanski,1 Eduardo Pérez-Palma,2 Tobias Brünger,3 Ludovica Montanucci,1 Cornelius Gati,4 Chiara Kl?ckner,5 Katrine M. Johannesen,6,7 Kimberly Goodspeed,

doi : 10.1093/brain/awad292

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Cell-type specific and multiscale dynamics of human focal seizures in limbic structures

Alexander H. Agopyan-Miu,1,† Edward M. Merricks,2,† Elliot H. Smith,2,3 Guy M. McKhann II,1 Sameer A. Sheth,4 Neil A. Feldstein,1 Andrew J. Trevelyan5 and Catherine A. Schevon

doi : 10.1093/brain/awad262

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Second messenger signalling bypasses CGRP receptor blockade to provoke migraine attacks in humans

Thien Phu Do,1,2 Christina Deligianni,1 Sarkhan Amirguliyev,1 Josefin Snellman,3 Cristina Lopez Lopez,4 Mohammad Al-Mahdi Al-Karagholi,1 Song Guo1 and Messoud Ashina

doi : 10.1093/brain/awad261

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Ablation of the carboxy-terminal end of MAMDC2 causes a distinct muscular dystrophy

Fabiola Mavillard,1,2,† Emilia Servian-Morilla,1,2,† Lein Dofash,3 I?igo Rojas-Marcos,1,4 Chiara Folland,3 Gavin Monahan,3 Gerardo Gutierrez-Gutierrez,5 Eloy Rivas,6 Aurelio Hern?ndez-Lain,7 Amador Valladares,1 Gloria Cantero,1 Jose M. Morales,8 Nigel G. Laing,3 Carmen Paradas,1,2,4 Gianina Ravenscroft3 and Macarena Cabrera-Serrano

doi : 10.1093/brain/awad256

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An epigenetic basis for genetic anticipation in facioscapulohumeral muscular dystrophy type 1

Fuze Zheng,1,† Liangliang Qiu,1,2,† Long Chen,1,2 Ying Zheng,1 Qifang He,1 Xiaodan Lin,1 Minting Lin,1,2 Yi Lin,1,2 Ying Fu,1,2 Ning Wang1,2 and Zhiqiang Wang

doi : 10.1093/brain/awad215

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Reply: An epigenetic basis for genetic anticipation in facioscapulohumeral muscular dystrophy type 1

Hannes Erdmann,1,2,† Florentine Scharf,1,† Ariane Hallermayr,1,3 Hayk Barseghyan,1,4,5 Maggie C. Walter,2 Elke Holinski-Feder,1,3 Benedikt Schoser2 and Angela Abicht

doi : 10.1093/brain/awad216

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Causal evidence for the multiple-demand brain network: it takes three to tango

Brigitte C. Kaufmann,1 Dario Cazzoli,2,3,4 Thomas Nyffeler2,3,5 and Paolo Bartolomeo

doi : 10.1093/brain/awad217

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Axonal Charcot-Marie-Tooth disease due to COQ7 mutation: expanding the genetic and clinical spectrum

Xin-Yun Zhang,1,2,3 Hai-Lin Dong1,2,3 and Zhi-Ying Wu1

doi : 10.1093/brain/awad212

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PTPA variants and the risk for Parkinson’s disease in diverse ancestry populations

Miriam Ostro?ovic?ov?,1,2,† Yasser Mecheri,3,† Bashayer R. Al-Mubarak,4 Nada Al-Tassan,4 Mary B. Makarious,5,6 Maria Teresa Peri?an7,8 and Sara Bandres-Ciga9 on behalf of the Global Parkinson’s Genetics Program (GP2)

doi : 10.1093/brain/awad247

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PTPA variants are rare in early-onset and familial Parkinson’s disease

Jaros?aw Dulski,1,2,3 Alexandra I. Soto-Beasley,4 Ryan J. Uitti,1 Zbigniew K. Wszolek1 and Owen A. Ross

doi : 10.1093/brain/awad244

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Correction to: Cell therapies for spinal cord injury: a review of the clinical trials and cell-type therapeutic potential

doi : 10.1093/brain/awad204

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