Centro de documentación: resultados de la búsqueda

Artículo
Heterozygous HTRA1 nonsense or frameshift mutations are pathogenic.
Autor/es:
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
Año publicación:
2021
Número de revista:
Brain vol. 144 n. 9
https://academic.oup.com/brain/article/144/9/2616/6322988
Artículo
Classification of neurological diseases using multi-dimensional CSF análisis.
Autor/es:
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
Año publicación:
2021
Número de revista:
Brain vol. 144 n. 9
https://academic.oup.com/brain/article/144/9/2625/6225005
Artículo
The unfolded protein response in amyotrophic later sclerosis: results of a phase 2 trial.
Autor/es:
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
Año publicación:
2021
Número de revista:
Brain vol. 144 n. 9
https://academic.oup.com/brain/article/144/9/2635/6255742
Artículo
Somatic MAP3K3 and PIK3CA mutations in sporadic cerebral and spinal cord cavernous malformations
Autor/es:
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.
Año publicación:
2021
Número de revista:
Brain vol. 144 n. 9
https://academic.oup.com/brain/article/144/9/2648/6174688
Artículo
Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy
Autor/es:
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,...
Año publicación:
2021
Número de revista:
Brain vol. 144 n. 9
https://academic.oup.com/brain/article/144/9/2659/6355367
Artículo
Whole-exome sequencing reveals a role of HTRA1 and EGFL8 in brain white matter hyperintensities.
Autor/es:
Malik R, Beaufort N, Frerich S, Gesierich B, Georgakis MK, Rannikmäe K, Ferguson AC, Haffner C, Traylor M, Ehrmann M, Sudlow CLM, Dichgans M.
Año publicación:
2021
Número de revista:
Brain vol. 144 n. 9
https://academic.oup.com/brain/article/144/9/2670/6385778
Artículo
TSPO PET imaging of natalizumab-associated progressive multifocal leukoencephalopathy.
Autor/es:
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
Año publicación:
2021
Número de revista:
Brain vol. 144 n. 9
https://academic.oup.com/brain/article/144/9/2683/6184141
Artículo
COVID-19 neuropathology at Columbia University Irving Medical Center/New York Presbyterian Hospital.
Autor/es:
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
Año publicación:
2021
Número de revista:
Brain vol. 144 n. 9
https://academic.oup.com/brain/article/144/9/2696/6226391
Artículo
Distinctive clinical presentation and pathogenic specificities of anti-AK5 encephalitis
Autor/es:
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.
Año publicación:
2021
Número de revista:
Brain vol. 144 n. 9
https://academic.oup.com/brain/article/144/9/2709/6222265
Artículo
MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline elevated serum creatine kinase.
Autor/es:
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,...
Año publicación:
2021
Número de revista:
Brain vol. 144 n. 9
https://academic.oup.com/brain/article/144/9/2722/6377325

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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.

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