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F. Madia · SciRah

Researcher profile · Semantic Scholar

F. Madia

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F. Madia — researcher profile on SciRah

h-index: 31
Works: 115
Citations: 3,187

Most-cited papers

Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals
Y. Feng, D. Howrigan, L. Abbott, K. Tashman +236 more
2019bioRxiv268 citations Open access
Semantic Scholar
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
V. Salpietro, C. Dixon, Hui Guo, O. Bello +234 more
2019Nature Communications227 citations Open access
Semantic Scholar
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture
R. Stevelink, C. Campbell, Si-Wei Chen, B. Abou-Khalil +315 more
2023Nature Genetics198 citations Open access
Semantic Scholar
TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy.
A. Falace, Fabia Filipello, V. La Padula, N. Vanni +9 more
2010American Journal of Human Genetics157 citations Open access
Semantic Scholar
Diagnostic implications of genetic copy number variation in epilepsy plus
A. Coppola, E. Cellini, H. Stamberger, E. Saarentaus +72 more
2019Epilepsia89 citations Open access
Semantic Scholar
Brain MRI Findings in Severe Myoclonic Epilepsy in Infancy and Genotype–Phenotype Correlations
P. Striano, M. Mancardi, R. Biancheri, F. Madia +26 more
2007Epilepsia88 citations
Semantic Scholar
Cryptic chromosome deletions involving SCN1A in severe myoclonic epilepsy of infancy
F. Madia, P. Striano, E. Gennaro, M. Malacarne +8 more
2006Neurology88 citations
Semantic Scholar
Clinical and Genetic Findings in 26 Italian Patients with Lafora Disease
S. Franceschetti, A. Gambardella, L. Canafoglia, P. Striano +16 more
2006Epilepsia78 citations Open access
Semantic Scholar
Natural history of young-adult amyotrophic lateral sclerosis
M. Sabatelli, F. Madia, A. Conte, M. Luigetti +5 more
2008Neurology58 citations
Semantic Scholar
Familial Occurrence of Febrile Seizures and Epilepsy in Severe Myoclonic Epilepsy of Infancy (SMEI) Patients with SCN1A Mutations
Maria Margherita Mancardi, P. Striano, E. Gennaro, F. Madia +22 more
2006Epilepsia58 citations Open access
Semantic Scholar
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals.
Joshua E. Motelow, G. Povysil, R. Dhindsa, Kate E. Stanley +251 more
2021American Journal of Human Genetics53 citations Open access
Semantic Scholar
Genotype-Phenotype Correlations in Neurofibromatosis Type 1: A Single-Center Cohort Study
M. Scala, I. Schiavetti, F. Madia, Cristina Chelleri +24 more
2021Cancers53 citations Open access
Semantic Scholar
Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadic amyotrophic lateral sclerosis.
M. Sabatelli, F. Eusebi, A. Al-Chalabi, A. Conte +19 more
2009Human Molecular Genetics52 citations Open access
Semantic Scholar
TTR-related amyloid neuropathy: clinical, electrophysiological and pathological findings in 15 unrelated patients
M. Luigetti, A. Conte, A. del Grande, G. Bisogni +6 more
2013Neurological Sciences51 citations
Semantic Scholar
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes
Si-Wei Chen, B. Abou-Khalil, Z. Afawi, Q. Z. Ali +332 more
2024Nature Neuroscience50 citations Open access
Semantic Scholar
Diagnostic Approach to Macrocephaly in Children
A. Accogli, A. Geraldo, G. Piccolo, A. Riva +10 more
2022Frontiers in Pediatrics50 citations Open access
Semantic Scholar
A novel HSPB1 mutation in an Italian patient with CMT2/dHMN phenotype.
M. Luigetti, G. Fabrizi, F. Madia, M. Ferrarini +5 more
2010Journal of Neurological Sciences47 citations
Semantic Scholar
Genetic and Early Clinical Manifestations of Females Heterozygous for Duchenne/Becker Muscular Dystrophy.
R. Papa, F. Madia, Domenico Bartolomeo, F. Trucco +7 more
2016Pediatric Neurology45 citations
Semantic Scholar
Uncovering amyotrophic lateral sclerosis phenotypes: Clinical features and long-term follow-up of upper motor neuron-dominant ALS
M. Sabatelli, M. Zollino, M. Luigetti, A. del Grande +7 more
2011Amyotrophic Lateral Sclerosis43 citations
Semantic Scholar
Benign adult familial myoclonic epilepsy (BAFME): evidence of an extended founder haplotype on chromosome 2p11.1-q12.2 in five Italian families
F. Madia, P. Striano, C. di Bonaventura, A. de Falco +6 more
2008Neurogenetics41 citations
Semantic Scholar
Life‐Threatening Status Epilepticus Following Gabapentin Administration in a Patient with Benign Adult Familial Myoclonic Epilepsy
P. Striano, A. Coppola, F. Madia, M. Pezzella +3 more
2007Epilepsia38 citations
Semantic Scholar
Acute myopathic quadriplegia in patients with COVID-19 in the intensive care unit
F. Madia, B. Merico, G. Primiano, S. Cutuli +2 more
2020Neurology36 citations
Semantic Scholar
Epilepsy Course and Developmental Trajectories in STXBP1-DEE
G. Balagura, J. Xian, A. Riva, Francesca Marchese +54 more
2022Neurology: Genetics34 citations Open access
Semantic Scholar
pSTAT1, pSTAT3, and T‐bet as markers of disease activity in chronic inflammatory demyelinating polyradiculoneuropathy
F. Madia, G. Frisullo, V. Nociti, A. Conte +7 more
2009Journal of the peripheral nervous system34 citations
Semantic Scholar
Short and long interval cortical inhibition in patients with Unverricht-Lundborg and Lafora body disease.
L. Canafoglia, C. Ciano, E. Visani, P. Anversa +6 more
2010Epilepsy Research31 citations
Semantic Scholar
Chronic autoimmune autonomic neuropathy responsive to immunosuppressive therapy
A. Modoni, M. Mirabella, F. Madia, T. Sanna +3 more
2007Neurology31 citations
Semantic Scholar
Genotype-phenotype correlations in patients with de novo KCNQ2 pathogenic variants
Federica Malerba, Giulio Alberini, G. Balagura, Francesca Marchese +36 more
2020Neurology: Genetics30 citations Open access
Semantic Scholar
Heterozygous SOD1 D90A mutation presenting as slowly progressive predominant upper motor neuron amyotrophic lateral sclerosis
M. Luigetti, A. Conte, F. Madia, G. Marangi +7 more
2009Neurological Sciences28 citations
Semantic Scholar
Light chain deposition in peripheral nerve as a cause of mononeuritis multiplex in Waldenström's macroglobulinaemia.
M. Luigetti, G. Frisullo, L. Laurenti, A. Conte +7 more
2010Journal of Neurological Sciences25 citations
Semantic Scholar
Linkage Analysis and Disease Models in Benign Familial Infantile Seizures: A Study of 16 Families
P. Striano, Maria Luisa Lispi, E. Gennaro, F. Madia +22 more
2006Epilepsia25 citations Open access
Semantic Scholar
Clinical spectrum and genotype-phenotype correlations in PRRT2 Italian patients.
G. Balagura, A. Riva, Francesca Marchese, M. Iacomino +28 more
2020European journal of paediatric neurology24 citations
Semantic Scholar
Clinical and pathological heterogeneity in a series of 31 patients with IgM-related neuropathy.
M. Luigetti, A. Conte, N. Montano, A. del Grande +4 more
2012Journal of Neurological Sciences22 citations
Semantic Scholar
Electroclinical and Genetic Findings in a Family with Cortical Tremor, Myoclonus, and Epilepsy
P. Striano, F. Madia, C. Minetti, S. Striano +1 more
2005Epilepsia22 citations
Semantic Scholar
Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder
G. D'Onofrio, A. Accogli, M. Severino, Haluk Caliskan +46 more
2023Human Genetics20 citations Open access
Semantic Scholar
A novel Xp22.13 microdeletion in Nance-Horan syndrome.
A. Accogli, M. Traverso, F. Madia, T. Bellini +3 more
2017Birth Defects Research19 citations
Semantic Scholar
Targeted re-sequencing in malformations of cortical development: genotype-phenotype correlations.
A. Accogli, M. Severino, A. Riva, F. Madia +35 more
2020Seizure18 citations Open access
Semantic Scholar
Sural nerve biopsy in peripheral neuropathies: 30-year experience from a single center
M. Luigetti, A. Di Paolantonio, G. Bisogni, A. Romano +7 more
2019Neurological Sciences18 citations
Semantic Scholar
A new single‐nucleotide deletion of PMP22 in an HNPP family without recurrent palsies
M. Luigetti, A. Conte, F. Madia, Maria Lucia Mereu +6 more
2008Muscle and Nerve18 citations
Semantic Scholar
Occurrence of nerve entrapment lesion in chronic inflammatory demyelinating polyneuropathy.
L. Padua, P. Caliandro, I. Aprile, M. Sabatelli +2 more
2004Clinical Neurophysiology17 citations
Semantic Scholar
SOD1 G93D mutation presenting as paucisymptomatic amyotrophic lateral sclerosis
M. Luigetti, F. Madia, A. Conte, G. Marangi +5 more
2009Amyotrophic Lateral Sclerosis16 citations
Semantic Scholar
Chronic GM2 gangliosidosis type Sandhoff associated with a novel missense HEXB gene mutation causing a double pathogenic effect.
M. Santoro, A. Modoni, M. Sabatelli, F. Madia +5 more
2007Molecular Genetics and Metabolism16 citations
Semantic Scholar
Triple A syndrome: a novel compound heterozygous mutation in the AAAS gene in an Italian patient without adrenal insufficiency.
M. Luigetti, A. Pizzuti, S. Bartoletti, H. Houlden +6 more
2010Journal of Neurological Sciences15 citations
Semantic Scholar
Neuropathy with predominant small fiber involvement associated with abnormal anti-MAG titer.
M. Luigetti, F. Madia, A. Conte, P. Tonali +1 more
2010Internal medicine15 citations Open access
Semantic Scholar
D11Y SOD1 mutation and benign ALS: a consistent genotype-phenotype correlation.
A. del Grande, A. Conte, S. Lattante, M. Luigetti +5 more
2011Journal of Neurological Sciences14 citations
Semantic Scholar
SEIPIN S90L Mutation in an Italian family with CMT2/dHMN and pyramidal signs
M. Luigetti, G. Fabrizi, F. Madia, M. Ferrarini +4 more
2010Muscle and Nerve14 citations
Semantic Scholar
A further contribution to the delineation of epileptic phenotype in PACS2-related syndrome.
G. Terrone, Francesca Marchese, M. S. Vari, M. Severino +7 more
2020Seizure13 citations Open access
Semantic Scholar
Pediatric Diffuse Midline Gliomas H3 K27M-Mutant and Non-Histone Mutant Midline High-Grade Gliomas in Neurofibromatosis Type 1 in Comparison With Non-Syndromic Children: A Single-Center Pilot Study
F. Garibotto, F. Madia, C. Milanaccio, A. Verrico +8 more
2020Frontiers in Oncology13 citations Open access
Semantic Scholar
Pathological Findings in Chronic Inflammatory Demyelinating Polyradiculoneuropathy: A Single-Center Experience
M. Luigetti, A. Romano, A. Di Paolantonio, G. Bisogni +4 more
2020Brain Science12 citations Open access
Semantic Scholar
Isolated compression of the ulnar motor branch due to carpal joint ganglia: clinical series, surgical technique and postoperative outcomes
M. Saracco, R. Panzera, B. Merico, F. Madia +2 more
2020European Journal of Orthopaedic Surgery & Traumatology11 citations Open access
Semantic Scholar
Autosomal Recessive Idiopathic Epilepsy in an Inbred Family from Turkey: Identification of a Putative Locus on Chromosome 9q32‐33
B. Baykan, F. Madia, N. Bebek, Stefania Gianotti +5 more
2004Epilepsia10 citations Open access
Semantic Scholar

Frequent co-authors

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F. Zara×25
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F. Zara — researcher profile on SciRah
P. Striano×22
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P. Striano — researcher profile on SciRah
A. Conte×17
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A. Conte — researcher profile on SciRah
M. Luigetti×17
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M. Luigetti — researcher profile on SciRah

×14

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M. Sabatelli — researcher profile on SciRah

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C. Minetti — researcher profile on SciRah

M. Iacomino×10

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M. Iacomino — researcher profile on SciRah

V. Salpietro×10

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V. Salpietro — researcher profile on SciRah

A. del Grande×10

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A. del Grande — researcher profile on SciRah

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M. S. Vari — researcher profile on SciRah

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M. Mancardi — researcher profile on SciRah

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G. Balagura — researcher profile on SciRah