Concepedia

Author

Lucia Abela

University Children's Hospital ZurichORCID

Also Known As

Abela, Lucia, L Abela, L. Abela, Lucia Abela, Megan T. Cho, S Mizzi

50

Publications

1K

Citations

18

H-Index

53

Concepts

All Affiliations

University Children's Hospital ZurichUniversity of ZurichUniversity College LondonGreat Ormond Street HospitalMedical University of Graz
LA

About

Lucia Abela is an author at University Children's Hospital Zurich specializing in medicine, genetics, and neuroscience.

Top Concepts

#ConceptH-IndexPublicationsCitations

1

Medicine

6

6

276

2

Social Sciences

2

2

47

3

Biochemistry

2

2

148

4

Cell Biology

2

2

81

5

Health Sciences

1

1

53

Lucia Abela

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20

Publications

881

Citations

16

H-Index

YearCitations

Pyridoxine responsiveness in novel mutations of the <i>PNPO</i> gene

Barbara Plecko, Karl Paul, Philippa B. Mills,

Neurology

2014

98

Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency

Uwe Ahting, Johannes A. Mayr, Arnaud Vanlander,

Frontiers in Genetics

2015

95

<i>KMT2B</i>-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation

Laura Cif, Diane Demailly, Jean‐Pierre Lin,

Brain

2020

94

The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study

Sorina Mihaela Papuc, Lucia Abela, Katharina Steindl,

European Journal of Human Genetics

2018

71

Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes

Anaïs Begemann, Mario A. Acuña, Markus Zweier,

Molecular Medicine

2019

67

MicroRNA-21 suppression impedes medulloblastoma cell migration

Eveline Grunder, Giulio Fiaschetti, Lucia Abela,

European Journal of Cancer

2011

65

Epigenetic silencing of miRNA-9 is associated with HES1 oncogenic activity and poor prognosis of medulloblastoma

Giulio Fiaschetti, Lucia Abela, Naosuke Nonoguchi,

British Journal of Cancer

2013

57

Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency

Lucia Abela, Ronen Spiegel, Lisa M. Crowther,

PLoS ONE

2017

53

N<sup>8</sup>‐acetylspermidine as a potential plasma biomarker for Snyder‐Robinson syndrome identified by clinical metabolomics

Lucia Abela, Luke Simmons, Katharina Steindl,

Journal of Inherited Metabolic Disease

2015

41

<scp><i>DNAJC6</i></scp> Mutations Disrupt Dopamine Homeostasis in Juvenile <scp>Parkinsonism‐Dystonia</scp>

Joanne Ng, Elisenda Cortès‐Saladelafont, Lucia Abela,

Movement Disorders

2020

38

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