日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy.

BLOC1S1 变异导致溶酶体和自噬缺陷,从而引起髓鞘形成不足的脑白质营养不良伴癫痫性脑病。

De Pace Raffaella, Dominguez Gonzalez Carlos A, Williamson Chad D, Helman Guy, Sanderson Leslie E, Disanza Brianna, Hsiao-Sánchez Nicole, Pizzino Amy, Muirhead Kayla, Bonkowsky Joshua L, Taft Ryan J, Sannaa Nouriya A, Dias Patricia, Quintas Ana Sofia, Mutlu Mehmet Burak, Bas Hasan, Oztürk Hasan, Mojarrad Majid, Alerasool Masoome, Sheikhani Shahriar, Jabbar Hayder Kadhim, Issa Awatif Hameed, Houlden Henry, Zonic Emir, Barakat Tahsin Stefan, Tripolski Kornelia, Romito Antonio, Teferedegn Eden, Vossough Arastoo, Whitehead Matthew T, Bhoj Elizabeth, Ahrens-Nicklas Rebecca C, Simons Cas, Wolvetang Ernst, van Ham Tjakko J, Bertoli-Avella Aida M, Maroofian Reza, Bonifacino Juan S, Vanderver Adeline

Pathogenic or Likely Pathogenic GRN Variants Are Found in 0.1% of Parkinson's Disease Patients

致病性或可能致病性的GRN变异体在0.1%的帕金森病患者中被发现。

Ganoza, Christian A; Westenberger, Ana; Paul, Jefri J; Curado, Filipa; Rennecke, Jörg; Mannepalli, Sumanth; Zonic, Emir; Saravanakumar, Deepa; Paknia, Omid; Al-Ali, Ruslan; Laabs, Björn-Hergen; Csoti, Ilona; Valzania, Franco; Vandenberghe, Wim; Reetz, Katrin; Afshari, Mitra; Hassin-Baer, Sharon; Fonoff, Erich Talamoni; Gruber, Doreen; de Rosa, Anna; Musacchio, Thomas; de Carvalho Aguiar, Patricia; Negrotti, Anna; Tumas, Vitor; Gomez-Esteban, Juan Carlos; Gurevich, Tanya; Pavese, Nicola; Kulisevsky, Jaime; Sammler, Esther; Klein, Christine; Bauer, Peter; Beetz, Christian

Clinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new cases.

SLC31A1相关发育性和癫痫性脑病的临床和分子特征:来自13个新病例的见解。

Juliá-Palacios Natalia, Muñoz-Pujol Gerard, Maroofian Reza, Bertoli-Avella Aida M, Gómez-Chiari Marta, Muchart-López Jordi, Paredes-Fuentes Abraham J, O'Callaghan Mar, Machado-Casas Irene S, Cristian Ingrid, Morrison Jennifer, Garcia-Cazorla Angels, Codina Anna, Miryounesi Mohammad, Zonic Emir, Bauer Peter, Cheema Huma, Anjum Muhammad Nadeem, Al-Sannaa Nouriya, Abd Elmaksoud Marwa, Ababneh Faroug, Alijanpour Sahar, Tonekaboni Seyed Hassan, Fayazi Afshin, Urbaniak Maria, Barba Uxía, Hoenicka Janet, Palau Francesc, Houlden Henry, Ortigoza-Escobar Juan Darío, Ribes Antonia, Santos-Ocaña Carlos, Tyler Millie, Gaffney Patrick, Carroll Christopher J, Tort Frederic, Wierenga Klaas J, Webb Bryn D, Artuch Rafael, Baide-Mairena Heidy, Urreizti Roser

A Retrospective Cohort Study of the GLA c.937G > T, p.Asp313Tyr Variant With No Evidence of an Association With Fabry Disease

一项回顾性队列研究发现,GLA c.937G > T, p.Asp313Tyr 变异与法布里病无关联。

Boettcher, Tobias; Beetz, Christian; Schulze, Daniel; Saravanakumar, Deepa; Zonic, Emir; Schroeder, Sabine; Kaune, Anett; Oppermann, Sebastian; Paknia, Omid; Basto, Jorge Pinto; Bauer, Peter

BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy.

BLOC1S1 变异导致溶酶体和自噬缺陷,从而引起髓鞘形成不足的脑白质营养不良伴癫痫性脑病

De Pace Raffaella, Gonzalez Carlos Dominguez, Williamson Chad D, Helman Guy, Sanderson Leslie E, Disanza Brianna, Hsiao-Sánchez Nicole, Pizzino Amy, Muirhead Kayla, Bonkowsky Joshua L, Taft Ryan J, Sannaa Nouriya A, Dias Patricia, Quintas Ana Sofia, Mutlu Mehmet Burak, Bas Hasan, Oztürk Hasan, Mojarrad Majid, Alerasool Masoome, Sheikhani Shahriar, Jabbar Hayder Kadhim, Issa Awatif Hameed, Houlden Henry, Zonic Emir, Barakat Tahsin Stefan, Tripolski Kornelia, Romito Antonio, Teferedegn Eden, Vossough Arastoo, Whitehead Matthew T, Bhoj Elizabeth, Ahrens-Nicklas Rebecca C, Simons Cas, Wolvetang Ernst, van Ham Tjakko J, Bertoli-Avella Aida M, Maroofian Reza, Bonifacino Juan S, Vanderver Adeline

Systematic gene-disease relationship (GDR) curation unveils 61 gene-disease associations and highlights the impact on genetic testing

系统性的基因-疾病关系(GDR)整理揭示了61个基因-疾病关联,并突显了其对基因检测的影响

Zonic, Emir; Ferreira, Mariana; Pardo, Luba M; Martini, Javier; Rocha, Maria Eugenia; Aanicai, Ruxandra; Ordonez-Herrera, Natalia; Saravanakumar, Deepa; Almeida, Ligia S; Fernandes, Inês C; Gulati, Nishtha; Mannepalli, Sumanth; Hercegovac, Amela; Al-Ali, Ruslan; Pereira, Catarina; Paknia, Omid; Hladnik, Uros; Bauer, Peter; Pinto Basto, Jorge; Bertoli-Avella, Aida M