A citation-based method for searching scientific literature

Hans R Waterham, Janet Koster, Carlo W T van Roermund, Petra A W Mooyer, Ronald J A Wanders, James V Leonard. N Engl J Med 2007
Times Cited: 512



Ruth Sheffer, Liza Douiev, Simon Edvardson, Avraham Shaag, Khaled Tamimi, Devorah Soiferman, Vardiella Meiner, Ann Saada. Am J Med Genet A 2016
Times Cited: 57




List of shared articles



Times cited

De novo DNM1L variant presenting with severe muscular atrophy, dystonia and sensory neuropathy.
Natalie Keller, Cem Paketci, Pinar Edem, Holger Thiele, Uluc Yis, Brunhilde Wirth, Mert Karakaya. Eur J Med Genet 2021
2

Mitochondrial Dynamics: Molecular Mechanisms, Related Primary Mitochondrial Disorders and Therapeutic Approaches.
Michela Di Nottia, Daniela Verrigni, Alessandra Torraco, Teresa Rizza, Enrico Bertini, Rosalba Carrozzo. Genes (Basel) 2021
2

Dynamic properties of mitochondria during human corticogenesis.
Tierney Baum, Vivian Gama. Development 2021
0

The relevance of mitochondrial morphology for human disease.
Tharsini Navaratnarajah, Ruchika Anand, Andreas S Reichert, Felix Distelmaier. Int J Biochem Cell Biol 2021
1


Mitochondrial dynamics in health and disease.
Nethmi M B Yapa, Valerie Lisnyak, Boris Reljic, Michael T Ryan. FEBS Lett 2021
11

Tourette Syndrome Risk Genes Regulate Mitochondrial Dynamics, Structure, and Function.
Raymond A Clarke, Teri M Furlong, Valsamma Eapen. Front Psychiatry 2021
0

Molecular Mechanisms behind Inherited Neurodegeneration of the Optic Nerve.
Alessandra Maresca, Valerio Carelli. Biomolecules 2021
0

Genetic Neuropathy Due to Impairments in Mitochondrial Dynamics.
Govinda Sharma, Gerald Pfeffer, Timothy E Shutt. Biology (Basel) 2021
0

Mitochondrial function in development and disease.
Marlies P Rossmann, Sonia M Dubois, Suneet Agarwal, Leonard I Zon. Dis Model Mech 2021
1

Mimicking human Drp1 disease-causing mutations in yeast Dnm1 reveals altered mitochondrial dynamics.
Riddhi Banerjee, Abhishek Kumar, Priyadarshi Satpati, Shirisha Nagotu. Mitochondrion 2021
1

DNM1L-Related Mitochondrial Fission Defects Presenting as Encephalopathy: A Case Report and Literature Review.
Xingmiao Liu, Zhongbin Zhang, Dong Li, Meifang Lei, Qing Li, Xiaojun Liu, Peiyuan Zhang. Front Pediatr 2021
0

Pathogenic DNM1L Variant (1085G>A) Linked to Infantile Progressive Neurological Disorder: Evidence of Maternal Transmission by Germline Mosaicism and Influence of a Contemporary in cis Variant (1535T>C).
Claudia Piccoli, Rosella Scrima, Annamaria D'Aprile, Massimiliano Chetta, Olga Cela, Consiglia Pacelli, Maria Ripoli, Giovanna D'Andrea, Maurizio Margaglione, Nenad Bukvic,[...]. Genes (Basel) 2021
0

Mitochondrial dynamics and its impact on human health and diseases: inside the DRP1 blackbox.
Riddhi Banerjee, Agradeep Mukherjee, Shirisha Nagotu. J Mol Med (Berl) 2021
0

Impaired turnover of hyperfused mitochondria in severe axonal neuropathy due to a novel DRP1 mutation.
Fabiana Longo, Sara Benedetti, Alberto A Zambon, Maria Grazia Natali Sora, Chiara Di Resta, Daniele De Ritis, Angelo Quattrini, Francesca Maltecca, Maurizio Ferrari, Stefano Carlo Previtali. Hum Mol Genet 2020
11

Bezafibrate Improves Mitochondrial Fission and Function in DNM1L-Deficient Patient Cells.
Liza Douiev, Ruth Sheffer, Gabriella Horvath, Ann Saada. Cells 2020
6

The cell biology of mitochondrial membrane dynamics.
Marta Giacomello, Aswin Pyakurel, Christina Glytsou, Luca Scorrano. Nat Rev Mol Cell Biol 2020
148

The Maintenance of Mitochondrial DNA Integrity and Dynamics by Mitochondrial Membranes.
James Chapman, Yi Shiau Ng, Thomas J Nicholls. Life (Basel) 2020
9

A yeast-based screening assay identifies repurposed drugs that suppress mitochondrial fusion and mtDNA maintenance defects.
Thomas Delerue, Déborah Tribouillard-Tanvier, Marlène Daloyau, Farnoosh Khosrobakhsh, Laurent Jean Emorine, Gaëlle Friocourt, Pascale Belenguer, Marc Blondel, Laetitia Arnauné-Pelloquin. Dis Model Mech 2019
7

Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy.
Daniela Verrigni, Michela Di Nottia, Anna Ardissone, Enrico Baruffini, Alessia Nasca, Andrea Legati, Emanuele Bellacchio, Gigliola Fagiolari, Diego Martinelli, Lucia Fusco,[...]. Hum Mutat 2019
20

De novo missense variant in the GTPase effector domain (GED) of DNM1L leads to static encephalopathy and seizures.
Nurit Assia Batzir, Pranjali K Bhagwat, Tanya N Eble, Pengfei Liu, Christine M Eng, Sarah H Elsea, Laurie A Robak, Fernando Scaglia, Alica M Goldman, Shweta U Dhar,[...]. Cold Spring Harb Mol Case Stud 2019
13