Centre de documentació: resultats de cerca

Article
Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy.
Autor/s:
Alonso-Pérez J, González-Quereda L, Bruno C, Panicucci C, Alavi A, Nafissi S, Nilipour Y, Zanoteli E, Isihi LMA, Melegh B, Hadzsiev K, Muelas N, Vílchez JJ, Dourado ME, Kadem N, Kutluk G, Umair M, Younus M, Pegorano E, Bello L, Crawford TO, Suárez-Calvet X, Töpf A, Guglieri M, Marini-Bettolo C,...
Editor's Choice
Any publicació:
2022
Número de revista:
Brain vol. 145 n. 2
https://academic.oup.com/brain/article/145/2/596/6369509
Article
Diagnostic value of cerebrospinal fluid alpha-synuclein seed quantification in synucleinopathies.
Autor/s:
Poggiolini I, Gupta V, Lawton M, Lee S, El-Turabi A, Querejeta-Coma A, Trenkwalder C, Sixel-Döring F, Foubert-Samier A, Pavy-Le Traon A, Plazzi G, Biscarini F, Montplaisir J, Gagnon JF, Postuma RB, Antelmi E, Meissner WG, Mollenhauer B, Ben-Shlomo Y, Hu MT, Parkkinen L.
Editor's Choice
Any publicació:
2022
Número de revista:
Brain vol. 145 n. 2
https://academic.oup.com/brain/article/145/2/584/6459775
Article
Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset.
Autor/s:
Mirza-Schreiber N, Zech M, Wilson R, Brunet T, Wagner M, Jech R, Boesch S, Škorvánek M, Necpál J, Weise D, Weber S, Mollenhauer B, Trenkwalder C, Maier EM, Borggraefe I, Vill K, Hackenberg A, Pilshofer V, Kotzaeridou U, Schwaibold EMC, Hoefele J, Waldenberger M, Gieger C, Peters A, Meitinger T,...
Editor's Choice
Any publicació:
2022
Número de revista:
Brain vol. 145 n. 2
https://academic.oup.com/brain/article/145/2/644/6378248
Article
Imaging protein aggregates in the serum and cerebrospinal fluid in Parkinson's disease.
Autor/s:
Lobanova E, Whiten D, Ruggeri FS, Taylor CG, Kouli A, Xia Z, Emin D, Zhang YP, Lam JYL, Williams-Gray CH, Klenerman D.
Editor's Choice
Any publicació:
2022
Número de revista:
Brain vol. 145 n. 2
https://academic.oup.com/brain/article/145/2/632/6355020
Article
Resting-state EEG reveals four subphenotypes of amyotrophic lateral sclerosis.
Autor/s:
Dukic S, McMackin R, Costello E, Metzger M, Buxo T, Fasano A, Chipika R, Pinto-Grau M, Schuster C, Hammond M, Heverin M, Coffey A, Broderick M, Iyer PM, Mohr K, Gavin B, McLaughlin R, Pender N, Bede P, Muthuraman M, van den Berg LH, Hardiman O, Nasseroleslami B.
Editor's Choice
Any publicació:
2022
Número de revista:
Brain vol. 145 n. 2
https://academic.oup.com/brain/article/145/2/621/6430106
Article
Interactome screening of C9orf72 dipeptide repeats reveals VCP sequestration and functional impairment by polyGA.
Autor/s:
Božič J, Motaln H, Janež AP, Markič L, Tripathi P, Yamoah A, Aronica E, Lee YB, Heilig R, Fischer R, Thompson AJ, Goswami A, Rogelj B.
Editor's Choice
Any publicació:
2022
Número de revista:
Brain vol. 145 n. 2
https://academic.oup.com/brain/article/145/2/684/6372042
Article
Inactivating Celsr2 promotes motor axon fasciculation and regeneration in mouse and human.
Autor/s:
Wen Q, Weng H, Liu T, Yu L, Zhao T, Qin J, Li S, Wu Q, Tissir F, Qu Y, Zhou L.
Editor's Choice
Any publicació:
2022
Número de revista:
Brain vol. 145 n. 2
https://academic.oup.com/brain/article/145/2/670/6496883
Article
Intravenous delivery of adeno-associated viral gene therapy in feline GM1 gangliosidosis.
Autor/s:
Gross AL, Gray-Edwards HL, Bebout CN, Ta NL, Nielsen K, Brunson BL, Lopez Mercado KR, Osterhoudt DE, Batista AR, Maitland S, Seyfried TN, Sena-Esteves M, Martin DR.
Editor's Choice
Any publicació:
2022
Número de revista:
Brain vol. 145 n. 2
https://academic.oup.com/brain/article/145/2/655/6355023
Article
Diagnostic accuracy of cerebrospinal fluid biomarkers in genetic prion diseases.
Autor/s:
Schmitz M, Villar-Piqué A, Hermann P, Escaramís G, Calero M, Chen C, Kruse N, Cramm M, Golanska E, Sikorska B, Liberski PP, Pocchiari M, Lange P, Stehmann C, Sarros S, Martí E, Baldeiras I, Santana I, Žáková D, Mitrová E, Dong XP, Collins S, Poleggi A, Ladogana A, Mollenhauer B, Kovacs GG,...
Editor's Choice
Any publicació:
2022
Número de revista:
Brain vol. 145 n. 2
https://academic.oup.com/brain/article/145/2/700/6547383
Article
Neuronal synchrony abnormalities associated with subclinical epileptiform activity in early-onset Alzheimer's disease.
Autor/s:
Ranasinghe KG, Kudo K, Hinkley L, Beagle A, Lerner H, Mizuiri D, Findlay A, Miller BL, Kramer JH, Gorno-Tempini ML, Rabinovici GD, Rankin KP, Garcia PA, Kirsch HE, Vossel K, Nagarajan SS.
Editor's Choice
Any publicació:
2022
Número de revista:
Brain vol. 145 n. 2
https://academic.oup.com/brain/article/145/2/744/6469013

Una iniciativa de:

Cercador

Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy.

Diagnostic value of cerebrospinal fluid alpha-synuclein seed quantification in synucleinopathies.

Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset.

Imaging protein aggregates in the serum and cerebrospinal fluid in Parkinson's disease.

Resting-state EEG reveals four subphenotypes of amyotrophic lateral sclerosis.

Interactome screening of C9orf72 dipeptide repeats reveals VCP sequestration and functional impairment by polyGA.

Inactivating Celsr2 promotes motor axon fasciculation and regeneration in mouse and human.

Intravenous delivery of adeno-associated viral gene therapy in feline GM1 gangliosidosis.

Diagnostic accuracy of cerebrospinal fluid biomarkers in genetic prion diseases.

Neuronal synchrony abnormalities associated with subclinical epileptiform activity in early-onset Alzheimer's disease.

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