Skip to content

Home Search Authors Pakistan News Saved

SciRah

SciRah does not host or store research papers. Results come live from free, official scholarly APIs, and every paper links back to its original source.

Data sources

OpenAlex
Semantic Scholar
Crossref
CORE
arXiv
PubMed

Privacy policy Terms of service

L. Galli · SciRah

Researcher profile · Semantic Scholar

L. Galli

Share profile

L. Galli — researcher profile on SciRah

h-index: 26
Works: 53
Citations: 2,079

Most-cited papers

MECP2 mutation in male patients with non‐specific X‐linked mental retardation
A. Orrico, C. Lam, L. Galli, M. Dotti +6 more
2000FEBS Letters259 citations
Semantic Scholar
Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome
M. T. Bassi, M. Schiaffino, A. Renieri, F. de Nigris +6 more
1995Nature Genetics210 citations
Semantic Scholar
X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene.
A. Renieri, M. Bruttini, L. Galli, P. Zanelli +16 more
1996American Journal of Human Genetics129 citations
Semantic Scholar
Novel PTEN mutations in neurodevelopmental disorders and macrocephaly
A. Orrico, L. Galli, S. Buoni, A. Orsi +2 more
2009Clinical Genetics114 citations
Semantic Scholar
Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia
L. Galli, A. Orrico, S. Lorenzini, S. Censini +4 more
2006Human Mutation91 citations Open access
Semantic Scholar
Phenotypic and molecular characterisation of the Aarskog–Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients
A. Orrico, L. Galli, M. L. Cavaliere, L. Garavelli +5 more
2004European Journal of Human Genetics89 citations
Semantic Scholar
A Rett syndrome MECP2 mutation that causes mental retardation in men
M. Dotti, A. Orrico, N. de Stefano, C. Battisti +6 more
2002Neurology75 citations
Semantic Scholar
Identification and characterization of three novel mutations in the CASQ1 gene in four patients with tubular aggregate myopathy
V. Barone, V. Del Re, A. Gamberucci, V. Polverino +17 more
2017Human Mutation71 citations Open access
Semantic Scholar
A mutation in the CASQ1 gene causes a vacuolar myopathy with accumulation of sarcoplasmic reticulum protein aggregates
D. Rossi, B. Vezzani, L. Galli, Cecilia Paolini +14 more
2014Human Mutation71 citations Open access
Semantic Scholar
SCN1A MUTATION ASSOCIATED WITH ATYPICAL PANAYIOTOPOULOS SYNDROME
Salvatore Grosso, A. Orrico, L. Galli, R. D. Di Bartolo +2 more
2007Neurology64 citations
Semantic Scholar
Spastic paraparesis, cerebellar ataxia, and intention tremor: a severe variant of FXTAS?
S. Jacquemont, A. Orrico, L. Galli, P. Sahota +7 more
2005Journal of Medical Genetics58 citations Open access
Semantic Scholar
Progression of Brain Atrophy in Spinocerebellar Ataxia Type 2: A Longitudinal Tensor-Based Morphometry Study
M. Mascalchi, S. Diciotti, M. Giannelli, A. Ginestroni +9 more
2014PLoS ONE55 citations Open access
Semantic Scholar
Aarskog–Scott syndrome: Clinical update and report of nine novel mutations of the FGD1 gene
A. Orrico, L. Galli, L. Faivre, J. Clayton-Smith +11 more
2010American Journal of Medical Genetics. Part A55 citations
Semantic Scholar
Mutations in the RYR1 gene in Italian patients at risk for malignant hyperthermia: evidence for a cluster of novel mutations in the C-terminal region.
L. Galli, A. Orrico, S. Cozzolino, V. Pietrini +2 more
2002Cell Calcium54 citations
Semantic Scholar
Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies
A. Orrico, L. Galli, Salvatore Grosso, S. Buoni +3 more
2009Clinical Genetics49 citations
Semantic Scholar
Mutations in the glucose‐6‐phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c
L. Galli, A. Orrico, P. Marcolongo, R. Fulceri +7 more
1999FEBS Letters49 citations
Semantic Scholar
A mutation in the pleckstrin homology (PH) domain of the FGD1 gene in an Italian family with faciogenital dysplasia (Aarskog–Scott syndrome)
A. Orrico, L. Galli, M. Falciani, Martina Bracci +4 more
2000FEBS Letters42 citations Open access
Semantic Scholar
Muscle Biopsy and In Vitro Contracture Test in Subjects with Idiopathic HyperCKemia
A. Malandrini, A. Orrico, C. Gaudiano, S. Gambelli +6 more
2008Anesthesiology40 citations Open access
Semantic Scholar
Cloning of a human homologue of the Xenopus laevis APX gene from the ocular albinism type 1 critical region.
M. Schiaffino, M. T. Bassi, E. Rugarli, A. Renieri +2 more
1995Human Molecular Genetics40 citations
Semantic Scholar
Attention‐deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog–Scott syndrome due to a novel FGD1 gene mutation (R408Q)
A. Orrico, L. Galli, S. Buoni, G. Hayek +5 more
2005American Journal of Medical Genetics. Part A37 citations
Semantic Scholar
A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy
D. Rossi, J. Palmio, A. Evilä, L. Galli +16 more
2017PLoS ONE36 citations Open access
Semantic Scholar
Septo‐optic dysplasia with digital anomalies associated with maternal multidrug abuse during pregnancy
A. Orrico, L. Galli, M. Zappella, L. Monti +3 more
2002European Journal of Neurology34 citations
Semantic Scholar
Spinocerebellar Ataxia Type 2 (Sca2) Associated with Retinal Pigmentary Degeneration
A. Rufa, M. Dotti, L. Galli, A. Orrico +2 more
2002European Neurology33 citations
Semantic Scholar
Late‐onset Lennox–Gastaut syndrome in a patient with 15q11.2–q13.1 duplication
A. Orrico, M. Zollino, L. Galli, S. Buoni +2 more
2009American Journal of Medical Genetics. Part A32 citations
Semantic Scholar
Mosaicism for full mutation and normal-sized allele of the FMR1 gene: a new case.
A. Orrico, L. Galli, M. Dotti, K. Plewnia +2 more
1998American journal of medical genetics31 citations
Semantic Scholar
Unusually severe expression of craniofacial features in Aarskog‐Scott syndrome due to a novel truncating mutation of the FGD1 gene
A. Orrico, L. Galli, M. Obregón, M. F. de Castro Perez +2 more
2007American Journal of Medical Genetics. Part A30 citations
Semantic Scholar
Possible case of Pitt-Hopkins syndrome in sibs.
A. Orrico, L. Galli, M. Zappella, Ching-wan Lam +3 more
2001American journal of medical genetics25 citations
Semantic Scholar
Unilateral focal polymicrogyria in a patient with classical Aarskog–Scott syndrome due to a novel missense mutation in an evolutionary conserved RhoGEF domain of the faciogenital dysplasia gene FGD1
A. Bottani, A. Orrico, L. Galli, O. Karam +3 more
2007American Journal of Medical Genetics. Part A24 citations Open access
Semantic Scholar
Deletion spanning the 5′ ends of both the COL4A5 and COL4A6 genes in a patient with Alport's syndrome and leiomyomatosis
A. Renieri, M. T. Bassi, L. Galli, Jing Zhou +3 more
1994Human Mutation23 citations Open access
Semantic Scholar
Ryanodine receptor 1 (RYR1) mutations in two patients with tubular aggregate myopathy
G. Vattemi, D. Rossi, L. Galli, M. R. Catallo +7 more
2022European Journal of Neuroscience19 citations Open access
Semantic Scholar
CAG Repeat Expansion in an Italian Family with Spinocerebellar Ataxia Type 2 (SCA2): A Clinical and Genetic Study
A. Malandrini, L. Galli, M. Villanova, S. Palmeri +6 more
1998European Neurology19 citations
Semantic Scholar
Adult onset multi/minicore myopathy associated with a mutation in the RYR1 gene
V. Pietrini, A. Marbini, L. Galli, V. Sorrentino
2004Journal of Neurology17 citations
Semantic Scholar
Clinical utility gene card for: Aarskog–Scott Syndrome (faciogenital dysplasia) – update 2015
A. Orrico, L. Galli, J. Clayton-Smith, J. Fryns
2014European Journal of Human Genetics16 citations Open access
Semantic Scholar
The first Italian patient with oculopharyngodistal myopathy: case report and considerations on differential diagnosis.
A. Mignarri, M. Carluccio, A. Malandrini, F. Sicurelli +5 more
2012Neuromuscular Disorders14 citations
Semantic Scholar
A novel frameshift deletion in type IV collagen α5 gene in a juvenile‐type Alport syndrome patient: An adenine deletion (2940/2943 del A) in exon 34 of COL4A5
B. Peissel, S. Rossetti, A. Renieri, L. Galli +7 more
199413 citations
Semantic Scholar
Single base pair deletions in exons 39 and 42 of the COL4A5 gene in Alport syndrome.
A. Renieri, L. Galli, M. de Marchi, S. Li Volti +6 more
1994Human Molecular Genetics13 citations
Semantic Scholar
A truncation in the RYR1 gene associated with central core lesions in skeletal muscle fibres
D. Rossi, P. de Smet, A. Lyfenko, L. Galli +8 more
2006Journal of Medical Genetics12 citations Open access
Semantic Scholar
Clinical utility gene card for: Aarskog–Scott syndrome (faciogenital dysplasia)
A. Orrico, L. Galli, J. Clayton-Smith, J. Fryns
2011European Journal of Human Genetics11 citations Open access
Semantic Scholar
De-novo COL4A5 gene mutations in Alport's syndrome.
L. Massella, G. Rizzoni, R. De Blasis, Paola Barsotti +5 more
1994Nephrology, Dialysis and Transplantation9 citations
Semantic Scholar
Functional Electrical Stimulation: A Possible Strategy to Improve Muscle Function in Central Core Disease?
P. Iodice, S. Boncompagni, L. Pietrangelo, L. Galli +7 more
2019Frontiers in Neurology4 citations Open access
Semantic Scholar
Inheritance of a novel RYR1 mutation in a family with myotonic dystrophy type 1
S. Gambelli, A. Malandrini, G. Berti, Carmen Gaudiano +9 more
2006Clinical Genetics3 citations
Semantic Scholar
Additional Case of Marden-Walker Syndrome: Support for the Autosomal-Recessive Inheritance and Refinement of Phenotype in a Surviving Patient
A. Orrico, L. Galli, M. Zappella, A. Orsi +1 more
2001Journal of Child Neurology3 citations
Semantic Scholar
Identification of novel potentially causative RYR1 variants in individuals with malignant hyperthermia susceptibility.
D. Rossi, Carlotta Pranzo, Sara Roccabianca, L. Galli +14 more
2025Neuromuscular Disorders2 citations Open access
Semantic Scholar
Resequencing the G6PT1 gene reveals a novel splicing mutation in a patient with glycogen storage disease type 1b.
C. Lam, A. Orrico, M. S. Yan, T. Law +4 more
2006Clinica chimica acta; international journal of clinical chemistry2 citations
Semantic Scholar
Missense mutations in the COL4A5 gene in patients with X‐linked alport syndrome
T. Neri, P. Zanelli, G. de Palma, M. Savi +12 more
1998Human Mutation2 citations Open access
Semantic Scholar
A novel frameshift deletion in type IV collagen alpha 5 gene in a juvenile-type Alport syndrome patient: an adenine deletion (2940/2943 del A) in exon 34 of COL4A5.
B. Peissel, S. Rossetti, A. Renieri, L. Galli +6 more
1994Human Mutation2 citations
Semantic Scholar
The Variable Expression of a Novel MBD5 Gene Frameshift Mutation in an Italian Family
A. Orrico, L. Galli, Maja Rossi, Ambra Cortesi +2 more
2020Neuropediatrics1 citations
Semantic Scholar
Analysis of malignant hyperthermia results in Padua and Siena
V. Tegazzin, A. Orrico, L. Galli, M. Fanin +1 more
2014BMC Anesthesiology1 citations Open access
Semantic Scholar
Small frameshift deletions within the COL4A5 gene in juvenile-onset Alport syndrome
A. Renieri, M. Seri, L. Galli, P. Cosci +9 more
1993Human Genetics1 citations
Semantic Scholar
Identification of a Calsequestrin-1 Mutation in a Human Vacuolar Myopathy
D. Rossi, B. Vezzani, V. Del Re, V. Barone +8 more
20150 citations Open access
Semantic Scholar

Frequent co-authors

Invite them to SciRah by sharing their profile.

A. Orrico×31
Invite
A. Orrico — researcher profile on SciRah
V. Sorrentino×21
Invite
V. Sorrentino — researcher profile on SciRah
A. Renieri×11
Invite
A. Renieri — researcher profile on SciRah
M. Dotti×8
Invite
M. Dotti — researcher profile on SciRah

×8

Invite

M. de Marchi — researcher profile on SciRah

Invite

D. Rossi — researcher profile on SciRah

Invite

G. Hayek — researcher profile on SciRah

Invite

S. Rossetti — researcher profile on SciRah

Invite

V. Tegazzin — researcher profile on SciRah

E. Pierantozzi×5

Invite

E. Pierantozzi — researcher profile on SciRah

Invite

M. Zappella — researcher profile on SciRah

Invite

A. Federico — researcher profile on SciRah