Brain vol. 144 n. 9

Brain vol. 144 n. 9

Volumen:

144

Veure revista:

BRAIN : a journal of neurology

Any publicació:

2021

En aquest número

Editorial
The value of studying rare genetic variants and other emerging themes in neurogenetics.
Autor/s:
Traynor BJ, Gottesman RF.
Editorial
Any publicació:
2021
Número de revista:
Brain vol. 144 n. 9
https://academic.oup.com/brain/article/144/9/2555/6408779
Editorial
Visual agnosia and imagery after Lissauer.
Autor/s:
Bartolomeo P.
Editorial
Any publicació:
2021
Número de revista:
Brain vol. 144 n. 9
https://academic.oup.com/brain/article/144/9/2557/6226388
Article
Another step towards defining the genetic landscape of rhabdomyolysis.
Autor/s:
Ravenscroft G, Cabrera-Serrano M.
Scientific Commentaries
Any publicació:
2021
Número de revista:
Brain vol. 144 n. 9
https://academic.oup.com/brain/article/144/9/2560/6377327
Article
Dying-back of ascending noradrenergic projections in Parkinson's disease.
Autor/s:
Helmich RC, Lehéricy S.
Scientific Commentaries
Any publicació:
2021
Número de revista:
Brain vol. 144 n. 9
https://academic.oup.com/brain/article/144/9/2562/6348167
Article
Towards a comprehensive 3D mapping of tau progression in early Alzheimer's disease.
Autor/s:
Khan AR, Ottoy J, Goubran M.
Scientific Commentaries
Any publicació:
2021
Número de revista:
Brain vol. 144 n. 9
https://academic.oup.com/brain/article/144/9/2565/6356553
Article
Sleep and future cognitive decline.
Autor/s:
Coulthard E, Blackman J.
Scientific Commentaries
Any publicació:
2021
Número de revista:
Brain vol. 144 n. 9
https://academic.oup.com/brain/article/144/9/2568/6408744
Article
The role of gut dysbiosis in Parkinson’s disease: mechanistic insights and therapeutic options.
Autor/s:
Wang Q, Luo Y, Ray Chaudhuri K, Reynolds R, Tan EK, Pettersson S.
Any publicació:
2021
Número de revista:
Brain vol. 144 n. 9
https://academic.oup.com/brain/article/144/9/2571/6226389
Article
Tumour immune landscape of paediatric high-grade gliomas
Autor/s:
Ross JL, Velazquez Vega J, Plant A, MacDonald TJ, Becher OJ, Hambardzumyan D.
Any publicació:
2021
Número de revista:
Brain vol. 144 n. 9
https://academic.oup.com/brain/article/144/9/2594/6226390
Article
HOPS-associated neurological disorders (HOPSANDs): linking endolysosomal dysfunction to the pathogenesis of dystonia.
Autor/s:
Monfrini E, Zech M, Steel D, Kurian MA, Winkelmann J, Di Fonzo A.
UPDATE
Any publicació:
2021
Número de revista:
Brain vol. 144 n. 9
https://academic.oup.com/brain/article/144/9/2610/6237874
Article
HOPS-associated neurological disorders (HOPSANDs): linking endolysosomal dysfunction to the pathogenesis of dystonia.
Autor/s:
Monfrini E, Zech M, Steel D, Kurian MA, Winkelmann J, Di Fonzo A.
UPDATE
Any publicació:
2021
Número de revista:
Brain vol. 144 n. 9
https://academic.oup.com/brain/article/144/9/2610/6237874
Article
Heterozygous HTRA1 nonsense or frameshift mutations are pathogenic.
Autor/s:
Coste T, Hervé D, Neau JP, Jouvent E, Ba F, Bergametti F, Lamy M, Cogez J, Derache N, Schneckenburger R, Grelet M, Gollion C, Lanotte L, Lauer V, Layet V, Urbanczyk C, Didic M, Raynouard I, Delaval L, Dassa J, Florea A, Badiu C, Nguyen K, Tournier-Lasserve E.
Reports
Any publicació:
2021
Número de revista:
Brain vol. 144 n. 9
https://academic.oup.com/brain/article/144/9/2616/6322988
Article
Classification of neurological diseases using multi-dimensional CSF análisis.
Autor/s:
Gross CC, Schulte-Mecklenbeck A, Madireddy L, Pawlitzki M, Strippel C, Räuber S, Krämer J, Rolfes L, Ruck T, Beuker C, Schmidt-Pogoda A, Lohmann L, Schneider-Hohendorf T, Hahn T, Schwab N, Minnerup J, Melzer N, Klotz L, Meuth SG, Meyer zu Hörste G, Baranzini SE, Wiendl H.
Reports
Any publicació:
2021
Número de revista:
Brain vol. 144 n. 9
https://academic.oup.com/brain/article/144/9/2625/6225005
Article
The unfolded protein response in amyotrophic later sclerosis: results of a phase 2 trial.
Autor/s:
Dalla Bella E, Bersano E, Antonini G, Borghero G, Capasso M, Caponnetto C, Chiò A, Corbo M, Filosto M, Giannini F, Spataro R, Lunetta C, Mandrioli J, Messina S, Monsurrò MR, Mora G, Riva N, Rizzi R, Siciliano G, Silani V, Simone I, Sorarù G, Tugnoli V, Verriello L, Volanti P, Furlan R, Nolan JM,...
Clinical Trial
Any publicació:
2021
Número de revista:
Brain vol. 144 n. 9
https://academic.oup.com/brain/article/144/9/2635/6255742
Article
Somatic MAP3K3 and PIK3CA mutations in sporadic cerebral and spinal cord cavernous malformations
Autor/s:
Hong T, Xiao X, Ren J, Cui B, Zong Y, Zou J, Kou Z, Jiang N, Meng G, Zeng G, Shan Y, Wu H, Chen Z, Liang J, Xiao X, Tang J, Wei Y, Ye M, Sun L, Li G, Hu P, Hui R, Zhang H, Wang Y.
Any publicació:
2021
Número de revista:
Brain vol. 144 n. 9
https://academic.oup.com/brain/article/144/9/2648/6174688
Article
Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy
Autor/s:
Verdura E, Rodríguez-Palmero A, Vélez-Santamaria V, Planas-Serra L, de la Calle I, Raspall-Chaure M, Roubertie A, Benkirane M, Saettini F, Pavinato L, Mandrile G, O'Leary M, O'Heir E, Barredo E, Chacón A, Michaud V, Goizet C, Ruiz M, Schlüter A, Rouvet I, Sala-Coromina J, Fossati C,...
Any publicació:
2021
Número de revista:
Brain vol. 144 n. 9
https://academic.oup.com/brain/article/144/9/2659/6355367
Article
Whole-exome sequencing reveals a role of HTRA1 and EGFL8 in brain white matter hyperintensities.
Autor/s:
Malik R, Beaufort N, Frerich S, Gesierich B, Georgakis MK, Rannikmäe K, Ferguson AC, Haffner C, Traylor M, Ehrmann M, Sudlow CLM, Dichgans M.
Any publicació:
2021
Número de revista:
Brain vol. 144 n. 9
https://academic.oup.com/brain/article/144/9/2670/6385778
Article
TSPO PET imaging of natalizumab-associated progressive multifocal leukoencephalopathy.
Autor/s:
Mahler C, Schumacher AM, Unterrainer M, Kaiser L, Höllbacher T, Lindner S, Havla J, Ertl-Wagner B, Patzig M, Seelos K, Neitzel J, Mäurer M, Krumbholz M, Metz I, Brück W, Stadelmann C, Merkler D, Gass A, Milenkovic V, Bartenstein P, Albert NL, Kümpfel T, Kerschensteiner M.
EDITOR'S CHOICE
Any publicació:
2021
Número de revista:
Brain vol. 144 n. 9
https://academic.oup.com/brain/article/144/9/2683/6184141
Article
COVID-19 neuropathology at Columbia University Irving Medical Center/New York Presbyterian Hospital.
Autor/s:
Thakur KT, Miller EH, Glendinning MD, Al-Dalahmah O, Banu MA, Boehme AK, Boubour AL, Bruce SS, Chong AM, Claassen J, Faust PL, Hargus G, Hickman RA, Jambawalikar S, Khandji AG, Kim CY, Klein RS, Lignelli-Dipple A, Lin CC, Liu Y, Miller ML, Moonis G, Nordvig AS, Overdevest JB, Prust ML, Przedborski...
EDITOR'S CHOICE
Any publicació:
2021
Número de revista:
Brain vol. 144 n. 9
https://academic.oup.com/brain/article/144/9/2696/6226391
Article
Distinctive clinical presentation and pathogenic specificities of anti-AK5 encephalitis
Autor/s:
Muñiz-Castrillo S, Hedou JJ, Ambati A, Jones D, Vogrig A, Pinto AL, Benaiteau M, de Broucker T, Fechtenbaum L, Labauge P, Murnane M, Nocon C, Taifas I, Vialatte de Pémille C, Psimaras D, Joubert B, Dubois V, Wucher V, Desestret V, Mignot E, Honnorat J.
Any publicació:
2021
Número de revista:
Brain vol. 144 n. 9
https://academic.oup.com/brain/article/144/9/2709/6222265
Article
MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline elevated serum creatine kinase.
Autor/s:
Lopes Abath Neto O, Medne L, Donkervoort S, Rodríguez-García ME, Bolduc V, Hu Y, Guadagnin E, Foley AR, Brandsema JF, Glanzman AM, Tennekoon GI, Santi M, Berger JH, Megeney LA, Komaki H, Inoue M, Cotrina-Vinagre FJ, Hernández-Lain A, Martin-Hernández E, Williams L, Borell S, Schorling D, Lin K,...
Any publicació:
2021
Número de revista:
Brain vol. 144 n. 9
https://academic.oup.com/brain/article/144/9/2722/6377325
Article
Regional locus coeruleus degeneration is uncoupled from noradrenergic terminal loss in Parkinson’s disease.
Autor/s:
Doppler CEJ, Kinnerup MB, Brune C, Farrher E, Betts M, Fedorova TD, Schaldemose JL, Knudsen K, Ismail R, Seger AD, Hansen AK, Stær K, Fink GR, Brooks DJ, Nahimi A, Borghammer P, Sommerauer M.
Any publicació:
2021
Número de revista:
Brain vol. 144 n. 9
https://academic.oup.com/brain/article/144/9/2732/6312551
Article
An in vivo Caenorhabditis elegans model for therapeutic research in human prion diseases.
Autor/s:
Bizat N, Parrales V, Laoues S, Normant S, Levavasseur E, Roussel J, Privat N, Gougerot A, Ravassard P, Beaudry P, Brandel JP, Laplanche JL, Haïk S.
Any publicació:
2021
Número de revista:
Brain vol. 144 n. 9
https://academic.oup.com/brain/article/144/9/2745/6408780
Article
Amyloid-β toxicity modulates tau phosphorylation through the PAX6 signalling pathway.
Autor/s:
Zhang Y, Zhang Y, Aman Y, Ng CT, Chau WH, Zhang Z, Yue M, Bohm C, Jia Y, Li S, Yuan Q, Griffin J, Chiu K, Wong DSM, Wang B, Jin D, Rogaeva E, Fraser PE, Fang EF, St George-Hyslop P, Song YQ.
Any publicació:
2021
Número de revista:
Brain vol. 144 n. 9
https://academic.oup.com/brain/article/144/9/2759/6356359
Article
Early stages of tau pathology and its associations with functional connectivity, atrophy and memory.
Autor/s:
Berron D, Vogel JW, Insel PS, Pereira JB, Xie L, Wisse LEM, Yushkevich PA, Palmqvist S, Mattsson-Carlgren N, Stomrud E, Smith R, Strandberg O, Hansson O.
Any publicació:
2021
Número de revista:
Brain vol. 144 n. 9
https://academic.oup.com/brain/article/144/9/2771/6174118
Article
Three-dimensional mapping of neurofibrillary tangle burden in the human medial temporal lobe.
Autor/s:
Yushkevich PA, Muñoz López M, Iñiguez de Onzoño Martin MM, Ittyerah R, Lim S, Ravikumar S, Bedard ML, Pickup S, Liu W, Wang J, Hung LY, Lasserve J, Vergnet N, Xie L, Dong M, Cui S, McCollum L, Robinson JL, Schuck T, de Flores R, Grossman M, Tisdall MD, Prabhakaran K, Mizsei G, Das SR, Artacho-...
Any publicació:
2021
Número de revista:
Brain vol. 144 n. 9
https://academic.oup.com/brain/article/144/9/2784/6321227
Article
SLITRK2, an X-linked modifier of the age at onset in C9orf72 frontotemporal lobar degeneration.
Autor/s:
Barbier M, Camuzat A, Hachimi KE, Guegan J, Rinaldi D, Lattante S, Houot M, Sánchez-Valle R, Sabatelli M, Antonell A, Molina-Porcel L, Clot F, Couratier P, van der Ende E, van der Zee J, Manzoni C, Camu W, Cazeneuve C, Sellal F, Didic M, Golfier V, Pasquier F, Duyckaerts C, Rossi G, Bruni AC,...
Any publicació:
2021
Número de revista:
Brain vol. 144 n. 9
https://academic.oup.com/brain/article/144/9/2798/6408768
Article
A passive and objective measure of recognition memory in Alzheimer's disease using Fastball memory assessment.
Autor/s:
Stothart G, Smith LJ, Milton A, Coulthard E.
Any publicació:
2021
Número de revista:
Brain vol. 144 n. 9
https://academic.oup.com/brain/article/144/9/2812/6372384
Article
Plasma markers predict changes in amyloid, tau, atrophy and cognition in non-demented subjects.
Autor/s:
Pereira JB, Janelidze S, Stomrud E, Palmqvist S, van Westen D, Dage JL, Mattsson-Carlgren N, Hansson O.
Any publicació:
2021
Número de revista:
Brain vol. 144 n. 9
https://academic.oup.com/brain/article/144/9/2826/6291241
Article
Mapping autonomic, mood and cognitive effects of hypothalamic region deep brain stimulation.
Autor/s:
Neudorfer C, Elias GJB, Jakobs M, Boutet A, Germann J, Narang K, Loh A, Paff M, Horn A, Kucharczyk W, Deeb W, Salvato B, Almeida L, Foote KD, Rosenberg PB, Tang-Wai DF, Anderson WS, Mari Z, Ponce FA, Wolk DA, Burke AD, Salloway S, Sabbagh MN, Chakravarty MM, Smith GS, Lyketsos CG, Okun MS, Lozano...
Any publicació:
2021
Número de revista:
Brain vol. 144 n. 9
https://academic.oup.com/brain/article/144/9/2837/6255743
Article
Sleep and longitudinal cognitive performance in preclinical and early symptomatic Alzheimer’s disease.
Autor/s:
Lucey BP, Wisch J, Boerwinkle AH, Landsness EC, Toedebusch CD, McLeland JS, Butt OH, Hassenstab J, Morris JC, Ances BM, Holtzman DM.
Any publicació:
2021
Número de revista:
Brain vol. 144 n. 9
https://academic.oup.com/brain/article/144/9/2852/6401973
Article
Kcnq2/Kv7.2 controls the threshold and bi-hemispheric symmetry of cortical spreading depolarization.
Autor/s:
Aiba I, Noebels JL.
Any publicació:
2021
Número de revista:
Brain vol. 144 n. 9
https://academic.oup.com/brain/article/144/9/2863/6188620
Article
Early childhood epilepsies: epidemiology, classification, aetiology, and socio-economic determinants.
Autor/s:
Symonds JD, Elliott KS, Shetty J, Armstrong M, Brunklaus A, Cutcutache I, Diver LA, Dorris L, Gardiner S, Jollands A, Joss S, Kirkpatrick M, McLellan A, MacLeod S, O'Regan M, Page M, Pilley E, Pilz DT, Stephen E, Stewart K, Ashrafian H, Knight JC, Zuberi SM...
Any publicació:
2021
Número de revista:
Brain vol. 144 n. 9
https://academic.oup.com/brain/article/144/9/2879/6408766

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Brain vol. 144 n. 9

Brain vol. 144 n. 9

En aquest número

The value of studying rare genetic variants and other emerging themes in neurogenetics.

Visual agnosia and imagery after Lissauer.

Another step towards defining the genetic landscape of rhabdomyolysis.

Dying-back of ascending noradrenergic projections in Parkinson's disease.

Towards a comprehensive 3D mapping of tau progression in early Alzheimer's disease.

Sleep and future cognitive decline.

The role of gut dysbiosis in Parkinson’s disease: mechanistic insights and therapeutic options.

Tumour immune landscape of paediatric high-grade gliomas

HOPS-associated neurological disorders (HOPSANDs): linking endolysosomal dysfunction to the pathogenesis of dystonia.

HOPS-associated neurological disorders (HOPSANDs): linking endolysosomal dysfunction to the pathogenesis of dystonia.

Heterozygous HTRA1 nonsense or frameshift mutations are pathogenic.

Classification of neurological diseases using multi-dimensional CSF análisis.

The unfolded protein response in amyotrophic later sclerosis: results of a phase 2 trial.

Somatic MAP3K3 and PIK3CA mutations in sporadic cerebral and spinal cord cavernous malformations

Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy

Whole-exome sequencing reveals a role of HTRA1 and EGFL8 in brain white matter hyperintensities.

TSPO PET imaging of natalizumab-associated progressive multifocal leukoencephalopathy.

COVID-19 neuropathology at Columbia University Irving Medical Center/New York Presbyterian Hospital.

Distinctive clinical presentation and pathogenic specificities of anti-AK5 encephalitis

MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline elevated serum creatine kinase.

Regional locus coeruleus degeneration is uncoupled from noradrenergic terminal loss in Parkinson’s disease.

An in vivo Caenorhabditis elegans model for therapeutic research in human prion diseases.

Amyloid-β toxicity modulates tau phosphorylation through the PAX6 signalling pathway.

Early stages of tau pathology and its associations with functional connectivity, atrophy and memory.

Three-dimensional mapping of neurofibrillary tangle burden in the human medial temporal lobe.

SLITRK2, an X-linked modifier of the age at onset in C9orf72 frontotemporal lobar degeneration.

A passive and objective measure of recognition memory in Alzheimer's disease using Fastball memory assessment.

Plasma markers predict changes in amyloid, tau, atrophy and cognition in non-demented subjects.

Mapping autonomic, mood and cognitive effects of hypothalamic region deep brain stimulation.

Sleep and longitudinal cognitive performance in preclinical and early symptomatic Alzheimer’s disease.

Kcnq2/Kv7.2 controls the threshold and bi-hemispheric symmetry of cortical spreading depolarization.

Early childhood epilepsies: epidemiology, classification, aetiology, and socio-economic determinants.

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