Publicacions científiques

Deschauer M, Hengel H, Rupprich K, Kreiß M, Schlotter-Weigel B, Grimmel M, Admard J, Schneider I, Alhaddad B, Gazou A, Sturm M, Vorgerd M, Balousha G, Balousha O, Falna M, Kirschke JS, Kornblum C, Jordan B, Kraya T, Strom TM, Weis J, Schöls L, Schara U, Zierz S, Riess O, Meitinger T, Haack TB.

Editor's choice

Any publicació:

2021

Número de revista:

Brain vol. 144 n. 2

https://academic.oup.com/brain/article/144/2/574/6103813

Article

Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking.

Autor/s:

Sanderson LE, Lanko K, Alsagob M, Almass R, Al-Ahmadi N, Najafi M, Al-Muhaizea MA, Alzaidan H, AlDhalaan H, Perenthaler E, van der Linde HC, Nikoncuk A, Kühn NA, Antony D, Owaidah TM, Raskin S, Vieira LGDR, Mombach R, Ahangari N, Silveira TRD, Ameziane N, Rolfs A, Alharbi A, Sabbagh RM, AlAhmadi K...

Report

Any publicació:

2021

Número de revista:

Brain vol. 144 n. 3

https://academic.oup.com/brain/article/144/3/769/6187999

Article

Biallelic DAB1 Variants Are Associated With Mild Lissencephaly and Cerebellar Hypoplasia

Autor/s:

Smits DJ, Schot R, Wilke M, van Slegtenhorst M, de Wi MCY, Dremmen MHG, Dobyns WB, Barkovich AJ, Mancini GMS

Any publicació:

2021

Número de revista:

Neurology® Genetics. vol. 7 n. 2

https://ng.neurology.org/content/7/2/e558

Article

Biallelic loss-of-function variations in PRDX3 cause cerebellar ataxia

Autor/s:

Rebelo AP, Eidhof I, Cintra VP, Guillot-Noel L, Pereira CV, Timmann D, Traschütz A, Schöls L, Coarelli G, Durr A, Anheim M, Tranchant C, van de Warrenburg B, Guissart C, Koenig M, Howell J, Moraes CT, Schenck A, Stevanin G, Züchner S, Synofzik M; PREPARE network.

Any publicació:

2021

Número de revista:

Brain vol. 144 n. 5

https://academic.oup.com/brain/article-abstract/144/5/1467/6247182

Article

Biallelic mutations in RNF220 cause laminopathies featuring leukodystrophy, ataxia and deafness.

Autor/s:

Sferra A, Fortugno P, Motta M, Aiello C, Petrini S, Ciolfi A, Cipressa F, Moroni I, Leuzzi V, Pieroni L, Marini F, Boespflug Tanguy O, Eymard-Pierre E, Danti FR, Compagnucci C, Zambruno G, Brusco A, Santorelli FM, Chiapparini L, Francalanci P, Loizzo AL, Tartaglia M, Cestra G, Bertini E.

Any publicació:

2021

Número de revista:

Brain vol. 144 n. 10

https://academic.oup.com/brain/article-abstract/144/10/3036/6284959

Una iniciativa de:

Cercador

Beyond Mismatch, Perfusion Imaging Predicts Infarct Growth Before Revascularization.

Beyond Physical Capacity: Factors Associated With Real-world Walking Activity After Stroke.

Beyond social support: in search of psychosocial predictors of chronic postsurgical pain.

Beyond the average patient: how neuroimaging models can address heterogeneity in dementia.

Bi-allelic loss of function variants in COX20 gene cause autosomal recessive sensory neuronopathy.

Bi-allelic truncating mutations in VWA1 cause neuromyopathy.

Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking.

Biallelic DAB1 Variants Are Associated With Mild Lissencephaly and Cerebellar Hypoplasia

Biallelic loss-of-function variations in PRDX3 cause cerebellar ataxia

Biallelic mutations in RNF220 cause laminopathies featuring leukodystrophy, ataxia and deafness.

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