Publicaciones científicas

Artículo

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

Autor/es:

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

Año publicación:

2021

Número de revista:

Brain vol. 144 n. 3

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

Artículo

Biallelic DAB1 Variants Are Associated With Mild Lissencephaly and Cerebellar Hypoplasia

Autor/es:

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

Año publicación:

2021

Número de revista:

Neurology® Genetics. vol. 7 n. 2

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

Artículo

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

Autor/es:

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.

Año publicación:

2021

Número de revista:

Brain vol. 144 n. 5

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

Artículo

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

Autor/es:

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.

Año publicación:

2021

Número de revista:

Brain vol. 144 n. 10

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

Artículo

Biallelic Pathogenic Variants in TNNT3 Associated With Congenital Myopathy.

Autor/es:

Calame DG, Fatih J, Herman I, Akdemir ZC, Du H, Jhangiani SN, Gibbs RA, Marafi D, Pehlivan D, Posey JE, Lotze T, Mancias P, Bhattacharjee MB, Lupski JR.

Año publicación:

2021

Número de revista:

Neurology® Genetics. vol. 7 n. 3

https://ng.neurology.org/content/7/3/e589

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

Biallelic PI4KA variants cause neurological, intestinal and immunological disease.

Autor/es:

Salter CG, Cai Y, Lo B, Helman G, Taylor H, McCartney A, Leslie JS, Accogli A, Zara F, Traverso M, Fasham J, Lees JA, Ferla MP, Chioza BA, Wenger O, Scott E, Cross HE, Crawford J, Warshawsky I, Keisling M, Agamanolis D, Ward Melver C, Cox H, Elawad M, Marton T, Wakeling MN, Holzinger D, Tippelt S,...

Año publicación:

2021

Número de revista:

Brain vol. 144 n. 12

https://academic.oup.com/brain/article/144/12/3597/6355377

Artículo

Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.

Autor/es:

Wiessner M, Maroofian R, Ni MY, Pedroni A, Müller JS, Stucka R, Beetz C, Efthymiou S, Santorelli FM, Alfares AA, Zhu C, Uhrova Meszarosova A, Alehabib E, Bakhtiari S, Janecke AR, Otero MG, Chen JYH, Peterson JT, Strom TM, De Jonghe P, Deconinck T, De Ridder W, De Winter J, Pasquariello R, Ricca I,...

Año publicación:

2021

Número de revista:

Brain vol. 144 n. 5

https://academic.oup.com/brain/article-abstract/144/5/1422/6273093

Artículo

Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy.

Autor/es:

Bonora E, Chakrabarty S, Kellaris G, Tsutsumi M, Bianco F, Bergamini C, Ullah F, Isidori F, Liparulo I, Diquigiovanni C, Masin L, Rizzardi N, Cratere MG, Boschetti E, Papa V, Maresca A, Cenacchi G, Casadio R, Martelli P, Matera I, Ceccherini I, Fato R, Raiola G, Arrigo S, Signa S, Sementa AR,...

Año publicación:

2021

Número de revista:

Brain vol. 144 n. 5

https://academic.oup.com/brain/article/144/5/1451/6224919

Artículo

Biallelic Variants in the COLGALT1 Gene Causes Severe Congenital Porencephaly A Case Report

Autor/es:

Teunissen MWA, Kamsteeg EJ, Sallevelt SCEH, Pennings M, Bauer NJC, Vermeulen RJ, Nicolai J

Año publicación:

2021

Número de revista:

Neurology® Genetics. vol. 7 n. 2

https://ng.neurology.org/content/7/2/e564

Una iniciativa de:

Buscador

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.

Biallelic Pathogenic Variants in TNNT3 Associated With Congenital Myopathy.

Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy

Biallelic PI4KA variants cause neurological, intestinal and immunological disease.

Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.

Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy.

Biallelic Variants in the COLGALT1 Gene Causes Severe Congenital Porencephaly A Case Report

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