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C. Aiello · SciRah

Researcher profile · Semantic Scholar

C. Aiello

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C. Aiello — researcher profile on SciRah

h-index: 24
Works: 54
Citations: 1,483

Most-cited papers

DPM2‐CDG: A muscular dystrophy–dystroglycanopathy syndrome with severe epilepsy
R. Barone, C. Aiello, V. Race, E. Morava +17 more
2012Annals of Neurology142 citations
Semantic Scholar
Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type.
C. Nogueira, C. Aiello, R. Cerone, E. Martins +17 more
2008Molecular Genetics and Metabolism100 citations
Semantic Scholar
POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes.
R. Biancheri, A. Falace, A. Tessa, M. Pedemonte +9 more
2007Biochemical and Biophysical Research Communications - BBRC93 citations
Semantic Scholar
Trans-ethnic Study Design Approaches for Fine-Mapping
A. Micalizzi, A. Poretti, M. Romani, M. Ginevrino +26 more
2016European Journal of Human Genetics88 citations Open access
Semantic Scholar
Megalencephalic leukoencephalopathy with subcortical cysts protein 1 functionally cooperates with the TRPV4 cation channel to activate the response of astrocytes to osmotic stress: dysregulation by pathological mutations.
A. Lanciotti, M. S. Brignone, Paola Molinari, S. Visentin +7 more
2012Human Molecular Genetics80 citations
Semantic Scholar
Congenital muscular dystrophies with defective glycosylation of dystroglycan
E. Mercuri, S. Messina, Cristina Bruno, Marina Mora +31 more
2009Neurology80 citations Open access
Semantic Scholar
Mutations in MFSD8/CLN7 are a frequent cause of variant‐late infantile neuronal ceroid lipofuscinosis
C. Aiello, A. Terracciano, A. Simonati, G. Discepoli +18 more
2009Human Mutation70 citations Open access
Semantic Scholar
The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes
L. Travaglini, C. Aiello, Fabrizia Stregapede, A. D'Amico +12 more
2018Neurogenetics60 citations
Semantic Scholar
Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations
A. Nasca, T. Rizza, Mara Doimo, A. Legati +18 more
2017Orphanet Journal of Rare Diseases55 citations Open access
Semantic Scholar
Ataxia, Intellectual Disability, and Ocular Apraxia with Cerebellar Cysts: A New Disease?
A. Poretti, M. Häusler, A. von Moers, B. Baumgartner +11 more
2014Cerebellum53 citations Open access
Semantic Scholar
Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis.
Natalia Cannelli, N. Nardocci, D. Cassandrini, M. Morbin +9 more
2007Neuropediatrics47 citations
Semantic Scholar
Glutathione imbalance in patients with X-linked adrenoleukodystrophy
S. Petrillo, F. Piemonte, A. Pastore, G. Tozzi +4 more
2013Molecular Genetics and Metabolism46 citations Open access
Semantic Scholar
Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6.
Natalia Cannelli, B. Garavaglia, A. Simonati, C. Aiello +18 more
2009Biochemical and Biophysical Research Communications - BBRC45 citations
Semantic Scholar
Cobalamin C Defect Presenting With Isolated Pulmonary Hypertension
F. Iodice, L. di Chiara, S. Boenzi, C. Aiello +3 more
2013Pediatrics39 citations
Semantic Scholar
POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study.
S. Messina, M. Mora, E. Pegoraro, A. Pini +25 more
2008Neuromuscular Disorders39 citations
Semantic Scholar
TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients.
D. Tonduti, C. Aiello, F. Renaldo, I. Dorboz +14 more
2016European journal of paediatric neurology33 citations
Semantic Scholar
Limb-girdle muscular dystrophy with α-dystroglycan deficiency and mutations in the ISPD gene
G. Tasca, Francesca Moro, C. Aiello, D. Cassandrini +5 more
2013Neurology33 citations
Semantic Scholar
RARS1‐related hypomyelinating leukodystrophy: Expanding the spectrum
Marisa I. Mendes, L. Green, E. Bertini, D. Tonduti +28 more
2019Annals of Clinical and Translational Neurology29 citations Open access
Semantic Scholar
Megalencephalic leukoencephalopathy with subcortical cysts type 1 (MLC1) due to a homozygous deep intronic splicing mutation (c.895-226T>G) abrogated in vitro using an antisense morpholino oligonucleotide
C. Mancini, G. Vaula, L. Scalzitti, S. Cavalieri +6 more
2012Neurogenetics26 citations Open access
Semantic Scholar
Prenatal ultrasound and magnetic resonance imaging features in a fetus with Walker–Warburg syndrome
F. Strigini, A. Valleriani, M. Cecchi, Paolo Ghirri +4 more
2009Ultrasound in Obstetrics and Gynecology26 citations
Semantic Scholar
Spinal cord involvement and paroxysmal events in “Infantile Onset Transient Hypomyelination” due to TMEM63A mutation
D. Tonduti, Eleonora Mura, S. Masnada, E. Bertini +9 more
2021Journal of Human Genetics25 citations
Semantic Scholar
Expanding the spectrum of megalencephalic leukoencephalopathy with subcortical cysts in two patients with GLIALCAM mutations
T. Arnedo, C. Aiello, Elena Jeworutzki, M. Dentici +5 more
2014Neurogenetics25 citations
Semantic Scholar
Monocytes and macrophages as biomarkers for the diagnosis of megalencephalic leukoencephalopathy with subcortical cysts.
S. Petrini, G. Minnone, M. Coccetti, C. Frank +10 more
2013Molecular and cellular neurosciences25 citations
Semantic Scholar
Natural history of a cohort of ABCD1 variant female carriers
T. Schirinzi, G. Vasco, C. Aiello, Cristiano Rizzo +8 more
2018European Journal of Neurology24 citations
Semantic Scholar
Biallelic mutations in the homeodomain of NKX6-2 underlie a severe hypomyelinating leukodystrophy
I. Dorboz, C. Aiello, C. Simons, R. Stone +12 more
2017Brain : a journal of neurology24 citations Open access
Semantic Scholar
Expanded phenotype of AARS1-related white matter disease
G. Helman, Marisa I. Mendes, F. Nicita, Lama Darbelli +33 more
2021Genetics in Medicine23 citations Open access
Semantic Scholar
Expanding the clinical phenotype of CAPN1-associated mutations: A new case with congenital-onset pure spastic paraplegia.
L. Travaglini, E. Bellacchio, C. Aiello, S. Pro +2 more
2017Journal of Neurological Sciences22 citations
Semantic Scholar
Biallelic mutations in RNF220 cause laminopathies featuring leukodystrophy, ataxia and deafness.
A. Sferra, P. Fortugno, M. Motta, C. Aiello +20 more
2021Brain : a journal of neurology20 citations Open access
Semantic Scholar
Application of a Clinical Workflow May Lead to Increased Diagnostic Precision in Hereditary Spastic Paraplegias and Cerebellar Ataxias: A Single Center Experience
V. Riso, Salvatore Rossi, T. Nicoletti, A. Tessa +8 more
2021Brain Science15 citations Open access
Semantic Scholar
Cobalamin C defect presenting as severe neonatal hyperammonemia
D. Martinelli, A. Dotta, L. Massella, S. Picca +4 more
2011European Journal of Pediatrics15 citations
Semantic Scholar
Superior Cerebellar Atrophy: An Imaging Clue to Diagnose ITPR1-Related Disorders
R. Romaniello, L. Pasca, E. Panzeri, F. D'Abrusco +10 more
2022International Journal of Molecular Sciences14 citations Open access
Semantic Scholar
Is subclinical adrenal failure in adrenoleukodystrophy/adrenomyeloneuropathy reversible?
Marco Cappa, C. Bizzarri, G. Giannone, C. Aiello +1 more
2011Journal of Endocrinological Investigation14 citations
Semantic Scholar
Congenital-onset spastic paraplegia in a patient with TUBB4A mutation and mild hypomyelination.
F. Nicita, E. Bertini, L. Travaglini, M. Armando +1 more
2016Journal of Neurological Sciences8 citations
Semantic Scholar
Expanding the Clinical and Mutational Spectrum of the PLP1-Related Hypomyelination of Early Myelinated Structures (HEMS)
F. Nicita, C. Aiello, G. Vasco, Massimiliano Valeriani +4 more
2021Brain Science7 citations Open access
Semantic Scholar
ABCD1 gene mutation in an Italian family with X-linkedadrenoleukodystrophy: case series
A. Mohn, N. Polidori, C. Aiello, C. Rizzo +3 more
2021Endocrinology, Diabetes & Metabolism Case Reports7 citations Open access
Semantic Scholar
“Atypical” Krabbe disease in two siblings harboring biallelic GALC mutations including a deep intronic variant
F. Nicita, Fabrizia Stregapede, F. Deodato, S. Pizzi +13 more
2022European Journal of Human Genetics6 citations Open access
Semantic Scholar
LBSL
M. Stellingwerff, Sonia Figuccia, E. Bellacchio, K. Álvarez +18 more
2021Neurology: Genetics5 citations Open access
Semantic Scholar
Uniparental disomy of chromosome 1 unmasks recessive mutations of PPT1 in a boy with neuronal ceroid lipofuscinosis type 1.
L. Travaglini, C. Aiello, V. Alesi, S. Loddo +5 more
2017Brain & development (Tokyo. 1979)5 citations
Semantic Scholar
Leukoencephalopathy with spot-like calcifications caused by recessive COL4A2 variants.
F. Nicita, C. Aiello, A. Carboni, D. Longo +2 more
2022Clinical neurology and neurosurgery (Dutch-Flemish ed. Print)4 citations
Semantic Scholar
Neuroimaging findings in leukoencephalopathy with calcifications and cysts: case report and review of the literature
E. Picchi, Valentina Ferrazzoli, G. Pizzicannella, Noemi Pucci +10 more
2021Neurological Sciences4 citations
Semantic Scholar
Gene symbol: CLN5. Disease: Neuronal Ceroid Lipofuscinosis, Finnish Variant.
I. A. Cismondi, Natalia Cannelli, C. Aiello, F. Santorelli +3 more
2008Human Genetics4 citations
Semantic Scholar
Astrocytes differentiated from patient iPSCs model the rare leukodystrophy MLC and uncover disease-linked maturation defects and Kir4.1 channel dysfunction.
A. Lanciotti, M. S. Brignone, C. De Nuccio, Sara Sposito +12 more
2025Neurobiology of Disease3 citations Open access
Semantic Scholar
Broadening the spectrum phenotype of TBCE-related neuron neurodegeneration.
R. Battini, R. Milone, C. Aiello, G. Astrea +4 more
2021Brain & development (Tokyo. 1979)3 citations
Semantic Scholar
Reconsidering NMIHBA Core Features: Macrocephaly Is Not a So Unusual Sign in PRUNE1-Related Encephalopathy
R. Battini, E. Bertini, R. Milone, C. Aiello +3 more
2020Journal of Pediatric Neurology online1 citations
Semantic Scholar
Neuronal ceroid lipofuscinoses: many players, and more to come
A. Simonati, Natalia Cannelli, F. Pezzini, C. Aiello +3 more
20091 citations
Semantic Scholar
The role of the neurologist in the diagnostic route of HSP and cerebellar ataxias in the next generation sequencing era: A single center experience
V. Riso, Salvatore Rossi, T. Nicoletti, A. Tessa +8 more
2021Journal of Neurological Sciences0 citations
Semantic Scholar
Biallelic mutations in the homeodomain of NKX6-2 underlie a severe hypomyelinating leukodystrophy
C. Aiello, I. Dorboz, C. Simons, R. Stone +12 more
20190 citations
Semantic Scholar
Ataxia, Intellectual Disability, and Ocular Apraxia with Cerebellar Cysts: A New Disease?
A. Poretti, M. Häusler, A. von Moers, B. Baumgartner +11 more
2013Cerebellum0 citations Open access
Semantic Scholar
Expanding the spectrum of megalencephalic leukoencephalopathy with subcortical cysts in two patients with GLIALCAM mutations
T. Arnedo, C. Aiello, Elena Jeworutzki, M. Dentici +5 more
2013Neurogenetics0 citations
Semantic Scholar
Ataxia, cognitive impairment, and ocular motor apraxia with cerebellar cysts and dysplasia: A new form of dystroglycanopathy?
A. Poretti, M. Häusler, A. van Moers, B. Baumgartner +10 more
20130 citations
Semantic Scholar

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