Marianna Bugiani - Concepedia

Concepedia

Author

Marianna Bugiani

Fondazione IRCCS Istituto Neurologico Carlo Besta

Also Known As

M Bugiani, M. Bugiani, Marianna Bugiani

20

Publications

1.1K

Citations

10

H-Index

20

Concepts

All Affiliations

Fondazione IRCCS Istituto Neurologico Carlo Besta Amsterdam UMC Location Vrije Universiteit Amsterdam Meyer Children's Hospital

MB

About

Marianna Bugiani is an author at Fondazione IRCCS Istituto Neurologico Carlo Besta specializing in genetics, medicine, and molecular genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	3	3	433
2	Molecular Genetics	2	2	174
3	Pathology	2	2	404
4	Natural Sciences	1	1	145
5	Molecular Biology	1	1	145

Marianna Bugiani

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9

Publications

1.1K

Citations

9

H-Index

	Year	Citations
Clinical and molecular findings in children with complex I deficiency Marianna Bugiani, Federica Invernizzi, Simona Alberio, Biochimica et Biophysica Acta (BBA) - Bioenergetics Down SyndromePrimary ImmunodeficiencyDevelopmental AnomalyMolecular FindingsAutoimmune Disease	2004	259
Clinical spectrum of 4H leukodystrophy caused by <i>POLR3A</i> and <i>POLR3B</i> mutations Nicole I. Wolf, Adeline Vanderver, Rosalina M.L. van Spaendonk, Neurology	2014	203
Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy Erika Fernández‐Vizarra, Marianna Bugiani, P Goffrini, Human Molecular Genetics	2007	180
Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy E. Malfatti, Marianna Bugiani, Federica Invernizzi, Brain GeneticsMolecular BiologyPathologyMolecular GeneticsDisease Gene Identification	2007	145
X‐linked creatine deficiency syndrome: A novel mutation in creatine transporter gene <i>SLC6A8</i> Alberto Bizzi, Marianna Bugiani, Gajja S. Salomons, Annals of Neurology	2002	90
Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2 Elide Mantuano, Silvia Romano, Liana Veneziano, Journal of the Neurological Sciences GeneticsGenetic DisorderDisease Gene IdentificationFifteen Patients	2010	86
Novel mutations in <i>COX15</i> in a long surviving Leigh syndrome patient with cytochrome <i>c</i> oxidase deficiency Marianna Bugiani Journal of Medical Genetics	2005	75
Novel mutations in the GDAP1 gene in patients affected with early-onset axonal Charcot-Marie-Tooth type 4A Isabella Moroni, Michela Morbin, M Milani, Neuromuscular Disorders Developmental BiologyMendelian DisorderGenetic DisorderGeneticsNovel Mutations	2009	29
4H Leukodystrophy: Lessons from 3T Imaging Ferdy Kurniawan Cayami, Marianna Bugiani, Petra J. W. Pouwels, Neuropediatrics	2017	17

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