Literature DB >> 28637197

Pontocerebellar hypoplasia with spinal muscular atrophy (PCH1): identification of SLC25A46 mutations in the original Dutch PCH1 family.

Tessa van Dijk1, Sabine Rudnik-Schöneborn2,3, Jan Senderek4, Ghazaleh Hajmousa1, Hailiang Mei5, Marina Dusl4, Eleonora Aronica6, Peter Barth7, Frank Baas1,8.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2017        PMID： 28637197     DOI： 10.1093/brain/awx147

Source DB:  PubMed          Journal:  Brain        ISSN： 0006-8950            Impact factor:   13.501


× No keyword cloud information.
  10 in total

1.  Insights into the genotype-phenotype correlation and molecular function of SLC25A46.

Authors:  Alexander J Abrams; Flavia Fontanesi; Natalie B L Tan; Elena Buglo; Ion J Campeanu; Adriana P Rebelo; Andrew J Kornberg; Dean G Phelan; Zornitza Stark; Stephan Zuchner
Journal:  Hum Mutat       Date:  2018-09-17       Impact factor: 4.878

2.  Nanoscopic quantification of sub-mitochondrial morphology, mitophagy and mitochondrial dynamics in living cells derived from patients with mitochondrial diseases.

Authors:  Weiwei Zou; Qixin Chen; Jesse Slone; Li Yang; Xiaoting Lou; Jiajie Diao; Taosheng Huang
Journal:  J Nanobiotechnology       Date:  2021-05-13       Impact factor: 10.435

3.  Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1.

Authors:  Bart Appelhof; Matias Wagner; Julia Hoefele; Anja Heinze; Timo Roser; Margarete Koch-Hogrebe; Stefan D Roosendaal; Mohammadreza Dehghani; Mohammad Yahya Vahidi Mehrjardi; Erin Torti; Henry Houlden; Reza Maroofian; Farrah Rajabi; Heinrich Sticht; Frank Baas; Dagmar Wieczorek; Rami Abou Jamra
Journal:  Eur J Hum Genet       Date:  2020-11-09       Impact factor: 4.246

Review 4.  An Overview of Mitochondrial Protein Defects in Neuromuscular Diseases.

Authors:  Federica Marra; Paola Lunetti; Rosita Curcio; Francesco Massimo Lasorsa; Loredana Capobianco; Vito Porcelli; Vincenza Dolce; Giuseppe Fiermonte; Pasquale Scarcia
Journal:  Biomolecules       Date:  2021-11-04

5.  Pontocerebellar Hypoplasia Type 1D: A Case Report and Comprehensive Literature Review.

Authors:  Ivana Dabaj; Adnan Hassani; Lydie Burglen; Leila Qebibo; Anne-Marie Guerrot; Stéphane Marret; Abdellah Tebani; Soumeya Bekri
Journal:  J Clin Med       Date:  2022-07-26       Impact factor: 4.964

6.  Case Report: A New Family With Pontocerebellar Hypoplasia 10 From Sudan.

Authors:  Mutaz Amin; Cedric Vignal; Ahlam A A Hamed; Inaam N Mohammed; Maha A Elseed; Rayan Abubaker; Yousuf Bakhit; Arwa Babai; Eman Elbadi; Esraa Eltaraifee; Doua Mustafa; Ashraf Yahia; Melka Osman; Mahmoud Koko; Mohamed Mustafa; Mohamed Alsiddig; Sahwah Haroun; Azza Elshafea; Severine Drunat; Liena E O Elsayed; Ammar E Ahmed; Odile Boespflug-Tanguy; Imen Dorboz
Journal:  Front Genet       Date:  2022-06-02       Impact factor: 4.772

7.  A Rare Case of Pontocerebellar Hypoplasia Type 1B With Literature Review.

Authors:  Ana C Spyridakis; Ying Cao; Florentina Litra
Journal:  Cureus       Date:  2022-07-21

Review 8.  What's new in pontocerebellar hypoplasia? An update on genes and subtypes.

Authors:  Tessa van Dijk; Frank Baas; Peter G Barth; Bwee Tien Poll-The
Journal:  Orphanet J Rare Dis       Date:  2018-06-15       Impact factor: 4.123

Review 9.  Drosophila melanogaster Mitochondrial Carriers: Similarities and Differences with the Human Carriers.

Authors:  Rosita Curcio; Paola Lunetti; Vincenzo Zara; Alessandra Ferramosca; Federica Marra; Giuseppe Fiermonte; Anna Rita Cappello; Francesco De Leonardis; Loredana Capobianco; Vincenza Dolce
Journal:  Int J Mol Sci       Date:  2020-08-22       Impact factor: 5.923

Review 10.  Molecular Mechanisms behind Inherited Neurodegeneration of the Optic Nerve.

Authors:  Alessandra Maresca; Valerio Carelli
Journal:  Biomolecules       Date:  2021-03-25
  10 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.