M. Rimoldi

2.1k citations

58 papers · 1.6k indexed · h-index 21

Impact in

Clinical Biochemistry top 0.2%
- Metabolism and Genetic Disorders
Biochemistry top 5%

Papers in

Clinical Biochemistry 33
- Metabolism and Genetic Disorders 33
Biochemistry 5

Co-authors: Stefano DiDonato Graziella Uziel Massimo Zeviani Cinzia Gellera Valeria Tiranti Lucía Morandi Carlo Antozzi Barbara Garavaglia
Journals: Neurology (7 papers)Journal of Inherited Metabolic Disease (5 papers)Neurological Sciences (5 papers)Frontiers in Neurology (4 papers)Neuroscience (3 papers)
Partner nations: Italy United States Sweden

In The Last Decade

M. Rimoldi

54 papers receiving 1.5k citations

Peers

Countries citing papers authored by M. Rimoldi

Since Specialization

Citations

This map shows the geographic impact of M. Rimoldi's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by M. Rimoldi with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites M. Rimoldi more than expected).

Fields of papers citing papers by M. Rimoldi

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by M. Rimoldi. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by M. Rimoldi. The network helps show where M. Rimoldi may publish in the future.

Co-authors

The 25 scholars most cited alongside M. Rimoldi, linked wherever they have co-authored with each other. Click a name or a connecting line to browse the papers they share.

Border = papers with M. Rimoldi Line = papers co-authored together M. Rimoldi links everyone, so they are left out of the graph.

All Works

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20 of 20 papers shown

#	Work
1	Myotonic dystrophies: an update on clinical features, molecular mechanisms, management, and gene therapy Neurological Sciences ·M. Rimoldi, Sabrina Lucchiari, Serena Pagliarani, G. Meola, Giacomo P. Comi, Elena Abati	2024	3
2	Case report: A novel ACTA1 variant in a patient with nemaline rods and increased glycogen deposition Frontiers in Neurology ·Daniela Piga, M. Rimoldi, Francesca Magri, Simona Zanotti, Laura Napoli, Michela Ripolone, Serena Pagliarani, Patrizia Ciscato, Daniele Velardo, Adele D’Amico, Enrico Bertini, Giacomo P. Comi, Dario Ronchi, Stefania Corti	2024	1
3	Detection of Germline Mutations in a Cohort of 250 Relatives of Mutation Carriers in Multigene Panel: Impact of Pathogenic Variants in Other Genes beyond BRCA1/2 Cancers ·Sara Di Rado, Roberta Giansante, Michela Cicirelli, Lucrezia Pilenzi, Anastasia Dell’Elice, Federico Anaclerio, M. Rimoldi, Antonino Grassadonia, Simona Grossi, Nicole Canale, Patrizia Ballerini, Liborio Stuppia, Ivana Antonucci	2023	3
4	Chung–Jansen syndrome can mimic Cornelia de Lange syndrome: Another player among chromatinopathies? American Journal of Medical Genetics Part A ·Beatrice Conti, Berardo Rinaldi, M. Rimoldi, Roberta Villa, Maria Iascone, Silvana Gangi, Matteo Porro, Paola Francesca Ajmone, Anna Maria Colli, Fabio Mosca, Maria Francesca Bedeschi	2023	4
5	Lafora Disease: A Case Report and Evolving Treatment Advancements Brain Sciences ·Carola Rita Ferrari Aggradi, M. Rimoldi, Gloria Romagnoli, Daniele Velardo, Megi Meneri, Davide Iacobucci, Michela Ripolone, Laura Napoli, Patrizia Ciscato, Maurizio Moggio, Giacomo P. Comi, Dario Ronchi, Stefania Corti, Elena Abati	2023	2
6	Prominent muscle involvement in a familial form of mitochondrial disease due to a COA8 variant Frontiers in Genetics ·M. Rimoldi, Francesca Magri, Sara Antognozzi, Michela Ripolone, Sabrina Salani, Daniela Piga, Letizia Bertolasi, Simona Zanotti, Patrizia Ciscato, Francesco Fortunato, Maurizio Moggio, Stefania Corti, Giacomo P. Comi, Dario Ronchi	2023	3
7	Case report: Clinical and molecular characterization of two siblings affected by Brody myopathy Frontiers in Neurology ·Daniele Velardo, Sara Antognozzi, M. Rimoldi, Serena Pagliarani, Filippo Cogiamanian, Sergio Barbieri, Stefania Corti, Giacomo P. Comi, Dario Ronchi	2023	2
8	Congenital diaphragmatic hernia in Coffin Siris syndrome: Further evidence from two cases American Journal of Medical Genetics Part A ·M. Rimoldi, Berardo Rinaldi, Roberta Villa, Jacopo Cerasani, Benedetta Beltrami, Maria Iascone, Rosamaria Silipigni, Simona Boito, Silvana Gangi, Lorenzo Colombo, Matteo Porro, Claudia Cesaretti, Maria Francesca Bedeschi	2022	0
9	Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy Journal of Medical Genetics ·Rossana Mineri, M. Rimoldi, Alberto Burlina, Sophie von Koskull, C Perletti, Bryce A. Heese, Ulrika von Döbeln, Paolo Mereghetti, Ivano Di Meo, Federica Invernizzi, Massimo Zeviani, Graziella Uziel, Valeria Tiranti	2008	54
10	Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPAgene in Italian families Neurological Sciences ·Caterina Mariotti, Cinzia Gellera, M. Rimoldi, Rossana Mineri, Graziella Uziel, Giovanna Zorzi, Davide Pareyson, G. Piccolo, D. Gambi, Silvia Piacentini, Ferdinando Squitieri, Ruggero Capra, Barbara Castellotti, S. Di Donato	2004	101
11	Parafascicular thalamic nucleus deafferentation reduces c- fos expression induced by dopamine D-1 receptor stimulation in rat striatum Neuroscience ·Susanna Giorgi, M. Rimoldi, S. Consolo	2001	11
12	Clinical, biochemical and neuroradiological findings in L -2-hydroxyglutaric aciduria Neurological Sciences ·Isabella Moroni, Ludovico D’Incerti, Lisa Maria Farina, M. Rimoldi, Graziella Uziel	2000	42
13	Very-long-chain acyl-coenzyme A dehydrogenase deficiency in a child with recurrent myoglobinuria Neuromuscular Disorders ·Carlo Minetti, Barbara Garavaglia, M. Bado, Federica Invernizzi, Claudio Bruno, M. Rimoldi, Roser Pons, Franco Taroni, G Cordone	1998	20
14	A new stable‐isotope dilution method for measurement of orotic acid utilizing solvent‐extracted urine Journal of Inherited Metabolic Disease ·M. Rimoldi, Patrizia Bergomi, A. Romeo, Stefano DiDonato	1994	8
15	Heterogeneous findings in four cases of cerebellar ataxia associated with hypogonadism (Holmes' type ataxia) Clinical Neurology and Neurosurgery ·Giuseppe De Michele, Alessandro Filla, Salvatore Striano, M. Rimoldi, G Campanella	1993	15
16	Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNALeu(UUR) The Lancet ·Massimo Zeviani, Cinzia Gellera, Carlo Antozzi, M. Rimoldi, Lucía Morandi, Valeria Tiranti, Stefano DiDonato, F. Villani	1991	300
17	Recessive carnitine palmityl transferase deficiency: biochemical studies in tissue cultures and platelets Journal of Neurology ·G. Meola, Nereo Bresolin, M. Rimoldi, M. Velicogna, Francesco Fortunato, G. Scarlato	1987	17
18	Needle biopsy for muscle diagnosis and research: an Italian experience Neurological Sciences ·F. Dworzak, Lucía Morandi, Sergio Daniel, Ivano Dones, Flavia Blàsevich, Margherita Marchi, Marina Mora, M. Rimoldi, F. Cornelio	1987	3
19	“Carnitine deficient” myopathy and cardiomyopathy with fatal outcome The Italian Journal of Neurological Sciences ·F. Cornelio, Stefano Di Donato, D. Testa, Marina Mora, Giulio Gori, D. Peluchetti, M. Rimoldi	1979	9
20	Lipid storage diseases: biochemical diagnosis. Munich Personal RePEc Archive (Ludwig Maximilian University of Munich) ·B Tettamanti, A. Lombardo, Sergio Marchesini, Alessandro Giuliani, B. Berra, Di Donato S, M. Rimoldi, B. Bertagnolio	1977	9

About M. Rimoldi

M. Rimoldi is a scholar working on Clinical Biochemistry, Biochemistry, Molecular Biology, Physiology and Cellular and Molecular Neuroscience, having authored 58 papers that have together received 1.6k indexed citations. Recurring topics across this work include Metabolism and Genetic Disorders (33 papers), Mitochondrial Function and Pathology (22 papers), Diet and metabolism studies (8 papers), Peroxisome Proliferator-Activated Receptors (7 papers), ATP Synthase and ATPases Research (6 papers), Biochemical and Molecular Research (5 papers), Genetic Neurodegenerative Diseases (5 papers) and Glycogen Storage Diseases and Myoclonus (5 papers). The work is most often cited by research in Clinical Biochemistry (892 citations), Biochemistry (128 citations), Molecular Biology (1.2k citations), Cellular and Molecular Neuroscience (183 citations) and Rheumatology (133 citations). M. Rimoldi has collaborated with scholars based in Italy, United States and Sweden. Frequent co-authors include Stefano DiDonato, Graziella Uziel, Massimo Zeviani, Cinzia Gellera, Valeria Tiranti, Lucía Morandi, Carlo Antozzi, Barbara Garavaglia, Stefano Di Donato and F. Cornelio. Their work appears in journals such as Neurology, Journal of Inherited Metabolic Disease, Neurological Sciences, Frontiers in Neurology and Neuroscience.

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