Publicacions científiques

Article

Biallelic Pathogenic Variants in TNNT3 Associated With Congenital Myopathy.

Autor/s:

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.

Any publicació:

2021

Número de revista:

Neurology® Genetics. vol. 7 n. 3

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

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

Biallelic PI4KA variants cause neurological, intestinal and immunological disease.

Autor/s:

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,...

Any publicació:

2021

Número de revista:

Brain vol. 144 n. 12

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

Article

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

Autor/s:

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,...

Any publicació:

2021

Número de revista:

Brain vol. 144 n. 5

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

Article

Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy.

Autor/s:

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,...

Any publicació:

2021

Número de revista:

Brain vol. 144 n. 5

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

Article

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

Autor/s:

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

Any publicació:

2021

Número de revista:

Neurology® Genetics. vol. 7 n. 2

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

Article

Biallelic variants in VPS50 cause a neurodevelopmental disorder with neonatal cholestasis.

Autor/s:

Schneeberger PE, Nampoothiri S, Holling T, Yesodharan D, Alawi M, Knisely AS, Müller T, Plecko B, Janecke AR, Kutsche K.

Any publicació:

2021

Número de revista:

Brain vol. 144 n. 10

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

Article

Bidirectional longitudinal associations between loneliness and pain, and the role of inflammation.

Autor/s:

Loeffler A, Steptoe A.

Any publicació:

2021

Número de revista:

Pain vol. 162 n. 3

https://journals.lww.com/pain/Fulltext/2021/03000/Bidirectional_longitudinal_ass…

Carta a l'editor

Bilateral Arm Training vs Unilateral Arm Training for Severely Affected Patients With Stroke: Comments on Exploratory Single-Blinded Randomized Controlled Trial.

Autor/s:

Alashram AR, Annino G.

Letters to the Editor

Any publicació:

2021

Número de revista:

Archives of Physical Medicine and Rehabilitation. vol. 102 n. 6

https://www.archives-pmr.org/article/S0003-9993(21)00182-9/fulltext

Article

Bilateral High Signal Intensity on DWI of the Precentral Cortices in Mitochondriopathy Due to MTO1 Mutation and MT-TF Variant.

Autor/s:

Dorcet G, Fabry V, Bonneville F, Cintas P.

NeuroImages

Any publicació:

2021

Número de revista:

Neurology vol. 96 n. 6

https://n.neurology.org/content/96/6/288

Una iniciativa de:

Cercador

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

Biallelic variants in VPS50 cause a neurodevelopmental disorder with neonatal cholestasis.

Bidirectional longitudinal associations between loneliness and pain, and the role of inflammation.

Bilateral Arm Training vs Unilateral Arm Training for Severely Affected Patients With Stroke: Comments on Exploratory Single-Blinded Randomized Controlled Trial.

Bilateral High Signal Intensity on DWI of the Precentral Cortices in Mitochondriopathy Due to MTO1 Mutation and MT-TF Variant.

Trobes a faltar informació? Fes-nos arribar els teus suggeriments!