Search

Your search keyword '"Giorgia, Montagna"' showing total 6 results
Start Over Author "Giorgia, Montagna"
6 results on '"Giorgia, Montagna"'

1. Spastic paraplegia with thin corpus callosum: description of 20new families, refinement of the SPG11 locus, candidate geneanalysis and evidence of genetic heterogeneity

Author

Giovanni Stevanin, Giorgia Montagna, Hamid Azzedine, Enza Maria Valente, Alexandra Durr, Valentina Scarano, Naima Bouslam, Denise Cassandrini, Paola S. Denora, Chiara Criscuolo, Soraya Belarbi, Antonio Orlacchio, Philippe Jonveaux, Gabriella Silvestri, Anne Marie Ouvrad Hernandez, Meriem Tazir, Caterina Mariotti, Knut Brockmann, Alessandro Malandrini, Marjo S. van der Knapp, Marcella Neri, Hassan Tonekaboni, Mariarosa A. B. Melone, Alessandra Tessa, M. Teresa Dotti, Michela Tosetti, Flavia Pauri, Antonio Federico, Carlo Casali, Vitor T. Cruz, José L. Loureiro, Federico Zara, Sylvie Forlani, Enrico Bertini, Paula Coutinho, Alexis Brice, Filippo M. S.a.n.t.o.r.e.l.l.i., DE MICHELE, GIUSEPPE, FILLA, ALESSANDRO, Giovanni, Stevanin, Giorgia, Montagna, Hamid, Azzedine, Enza Maria, Valente, Alexandra, Durr, Valentina, Scarano, Naima, Bouslam, Denise, Cassandrini, Paola S., Denora, Chiara, Criscuolo, Soraya, Belarbi, Antonio, Orlacchio, Philippe, Jonveaux, Gabriella, Silvestri, Anne Marie Ouvrad, Hernandez, DE MICHELE, Giuseppe, Meriem, Tazir, Caterina, Mariotti, Knut, Brockmann, Alessandro, Malandrini, Marjo S., van der Knapp, Marcella, Neri, Hassan, Tonekaboni, Mariarosa A. B., Melone, Alessandra, Tessa, M., Teresa Dotti, Michela, Tosetti, Flavia, Pauri, Antonio, Federico, Carlo, Casali, Vitor T., Cruz, José L., Loureiro, Federico, Zara, Sylvie, Forlani, Enrico, Bertini, Paula, Coutinho, Filla, Alessandro, Alexis, Brice, and Filippo, M. S. a. n. t. o. r. e. l. l. i.

Published
2006

2. Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity

Author

Giovanni, Stevanin, Giorgia, Montagna, Hamid, Azzedine, Enza Maria Valente, Alexandra, Durr, Valentina, Scarano, Naima, Bouslam, Denise, Cassandrini, Denora, Paola S., Chiara, Criscuolo, Soraya, Belarbi, Antonio, Orlacchio, Philippe, Jonveaux, Gabriella, Silvestri, Anne Marie Ouvrad Hernandez, De Michele, G., Meriem, Tazir, Caterina, Mariotti, Knut, Brockmann, Alessandro, Malandrini, Van Der Knapp, M. S., Marcella, Neri, Hassan, Tonekaboni, Melone, Mariarosa A. B., Alessandra, Tessa, Teresa Dotti, M., Michela, Tosetti, Pauri, Flavia, Antonio, Federico, Casali, Carlo, Cruz, Vitor T., Loureiro, Jose L., Federico, Zara, Sylvie, Forlani, Enrico, Bertini, Paula, Coutinho, Alessandro, Filla, Alexis, Brice, Santorelli, Filippo M., Casali, C., Neurologie et thérapeutique expérimentale, Université Pierre et Marie Curie - Paris 6 (UPMC)-IFR70-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Unit of Molecular Medicine, IRCCS, Mendel Institute, Department of Neurological Sciences, University of Naples Federico II = Università degli studi di Napoli Federico II, Pediatric Neurology and Neuromuscular Diseases Unit, Università degli studi di Genova = University of Genoa (UniGe), Service de Neurologie, Hopital Mustapha, Department of Neurosciences, Università degli Studi di Roma Tor Vergata [Roma], Service de Génétique [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Department of Neuroscience, Catholic University, Département de neurologie, Université Joseph Fourier - Grenoble 1 (UJF)-CHU Grenoble, Besta Neurological Institute, Department of Pediatrics and Neuropediatrics, Georg-August-University = Georg-August-Universität Göttingen, Institute of Neurological Sciences, Department of Child Neurology, VU University Medical Center [Amsterdam], Medical Genetics, Università degli Studi di Ferrara = University of Ferrara (UniFE), Stella Maris, Department of Neurology and ORL, Università degli Studi di Roma 'La Sapienza' = Sapienza University [Rome] (UNIROMA), Departamento de Neurologia, Hospital S. Sebastiao, ANR-05-MRAR-0001,Cav3pathies,Approches physiopathologique et moléculaire de la signalisation calcique dans les caveolinopathies musculaires(2005), Stevanin, G, Montagna, G, Azzedine, H, Valente, Em, Durr, A, Scarano, V, Bouslam, N, Cassandrini, D, Denora, P, Criscuolo, C, Belarbi, S, Orlacchio, A, Jonveaux, P, Silvestri, G, Hernandez, Am, DE MICHELE, G, Tazir, M, Mariotti, C, Brockmann, K, Malandrini, A, VAN DER KNAPP, M, Neri, M, Tonekaboni, H, Melone, Mariarosa Anna Beatrice, Tessa, A, Dotti, Mt, Tosetti, M, Pauri, F, Federico, A, Casali, C, Cruz, Vt, Loureiro, Jl, Zara, F, Forlani, S, Bertini, E, Coutinho, P, Filla, A, Brice, A, Santorelli, Fm, Pediatric surgery, Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR70-Université Pierre et Marie Curie - Paris 6 (UPMC), Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Università degli studi di Napoli Federico II, Universita degli studi di Genova, Georg-August-University [Göttingen], Università degli Studi di Ferrara (UniFE), University of Naples Federico II, and Università degli Studi di Roma 'La Sapienza' = Sapienza University [Rome]

Subjects
Male, Candidate gene, Genetic Linkage, Corpus Callosum, Consanguinity, Autosomal recessive hereditary spastic, Genetic heterogeneity, 0302 clinical medicine, MESH: Child, Spastic Paraplegia, Autosomal recessive hereditary spastic paraplegia, Linkage, SPG11, Thin corpus callosum, Adolescent, Child, Child, Preschool, Chromosomes, Human, Pair 15, Female, Humans, Infant, Lod Score, Pedigree, Phenotype, Spastic Paraplegia, Hereditary, Genes, Recessive, Genetic Heterogeneity, Genetics, Genetics (clinical), Cellular and Molecular Neuroscience, 0303 health sciences, MESH: Spastic Paraplegia, Hereditary, MESH: Genetic Heterogeneity, MESH: Infant, autosomal recessive hereditary spastic paraplegia, genetic heterogeneity, linkage, spg11, thin corpus callosum, Hereditary, Settore MED/26 - Neurologia, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Human, Hereditary spastic paraplegia, MESH: Pedigree, Locus (genetics), Biology, MESH: Phenotype, MESH: Corpus Callosum, Chromosomes, 03 medical and health sciences, Gene mapping, Genetic linkage, medicine, Recessive, Preschool, MESH: Genes, Recessive, 030304 developmental biology, MESH: Adolescent, MESH: Consanguinity, Autosome, MESH: Humans, Thin corpus callosum, SPG11, Linkage, Haplotype, MESH: Child, Preschool, Pair 15, medicine.disease, MESH: Male, Genes, MESH: Lod Score, MESH: Linkage (Genetics), MESH: Female, 030217 neurology & neurosurgery, MESH: Chromosomes, Human, Pair 15
Abstract

We studied 20 Mediterranean families (40 patients) with autosomal recessive hereditary spastic paraplegia and thin corpus callosum (ARHSP-TCC, MIM 604360) to characterize their clinical and genetic features. In six families (17 patients) of Algerian Italian, Moroccan, and Portuguese ancestry, we found data consistent with linkage to the SPG11 locus on chromosome 15q13-15, whereas, in four families (nine patients of Italian, French, and Portuguese ancestry) linkage to the SPG11 locus could firmly be excluded, reinforcing the notion that ARHSP-TCC is genetically heterogeneous. Patients from linked and unlinked families could not be distinguished on the basis of clinical features alone. In SPG11-linked kindred, haplotype reconstruction allowed significant refinement to 6 cM, of the minimal chromosomal interval, but analysis of two genes (MAP1A and SEMA6D) in this region did not identify causative mutations. Our findings suggest that ARHSP-TCC is the most frequent form of ARHSP in Mediterranean countries and that it is particularly frequent in Italy.

Published
2006
Full Text
View/download PDF

3. Familial basilar migraine associated with a new mutation in the ATP1A2 gene

Author

Mara D'Onofrio, G. Nappi, A. Di Mambro, D. Fortini, Giorgia Montagna, Grazia Sances, Jean Schoenen, Filippo M. Santorelli, Maria Gabriella Buzzi, G. S. Grieco, Francesco Pierelli, Ferdinando Nicoletti, and A. Ambrosini

Subjects
Male, medicine.medical_specialty, Adolescent, Genotype, Basilar migraine, new mutation, ATP1A2 gene, DNA Mutational Analysis, Migraine with Aura, Mutation, Missense, medicine.disease_cause, ATP1A2, Internal medicine, medicine, Humans, Point Mutation, Genetic Predisposition to Disease, Genetic Testing, Allele, Familial hemiplegic migraine, Aged, Mutation, business.industry, Basilar-Type Migraine, Brain, Middle Aged, medicine.disease, Migraine with aura, Endocrinology, Phenotype, Migraine, Italy, Chromosomes, Human, Pair 1, Immunology, Female, Neurology (clinical), medicine.symptom, Sodium-Potassium-Exchanging ATPase, business
Abstract

Basilar migraine (BM), familial hemiplegic migraine (FHM), and sporadic hemiplegic migraine (SHM) are phenotypically similar subtypes of migraine with aura, differentiated only by motor symptoms, which are absent in BM. Mutations in CACNA1A and ATP1A2 have been found in FHM. The authors detected a novel mutation in the ATP1A2 gene (R548H) in members of a family with BM, suggesting that BM and FHM may be allelic disorders.

Published
2005

4. Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum

Author

G. Nappi, Alessandro Rossi, Giuseppe Amabile, V. Scarano, G. S. Grieco, Maria Damiano, Enza Maria Valente, G. De Michele, Alessandra Tessa, Carlo Casali, Bruno Dallapiccola, Massimo Carella, Alberto Pierallini, Francesco Brancati, Federica Cricchi, Filippo M. Santorelli, Ben Martini, Chiara Criscuolo, Marcello Villanova, Maria Muglia, Enrico Bertini, Giorgia Montagna, A. Filla, Casali, C, Valente, Em, Bertini, E, Montagna, G, Criscuolo, C, DE MICHELE, Giuseppe, Villanova, M, Damiano, M, Pierallini, A, Brancati, F, Scarano, V, Tessa, A, Cricchi, F, Grieco, G, Muglia, M, Carella, M, Martini, B, Rossi, A, Amabile, Ga, Nappi, G, Filla, Alessandro, Dallapiccola, B, and Santorelli, F. M.

Subjects
Adult, Male, Pathology, medicine.medical_specialty, Adolescent, Hereditary spastic paraplegia, Genes, Recessive, Locus (genetics), Consanguinity, Corpus Callosum, Genetic linkage, Humans, Medicine, Child, Genetics, Chromosomes, Human, Pair 15, Spastic Paraplegia, Hereditary, Genetic heterogeneity, business.industry, Haplotype, Chromosome, medicine.disease, Pedigree, Haplotypes, Italy, Genetic marker, Female, Neurology (clinical), Lod Score, business
Abstract

Background: A complicated form of recessive hereditary spastic paraplegias (HSPs) with thin corpus callosum (TCC) was first described in Japan, and most of the Japanese families showed linkage to chromosome 15q13–15. A recessive HSP locus (SPG11) has also been mapped to chromosome 15q13–15 in Italian and North American families with and without TCC, and it overlaps the region identified in the Japanese families. Objective: To study clinically and genetically 12 Italian families with HSP and TCC. Methods: The authors investigated 18 affected and 30 healthy individuals from 12 unrelated Italian families with recessive HSP-TCC. Clinical, neurophysiologic, and neuroradiologic studies were undertaken. All patients were negative for SPG7 mutations. Genetic linkage analyses were carried out with polymorphic DNA markers on 15q13–15. Results: Five families were consistent with linkage, thus defining a 19.8-cM region between markers D15S1007 and D15S978, encompassing the SPG11 interval. In one consanguineous family, linkage could be firmly excluded, confirming genetic heterogeneity. Two families appeared not linked to the region, but this could not be firmly proved because of the small family size. The remaining four families were uninformative for linkage purposes. Conclusion: HSP-TCC is common in Italy. The phenotype is fairly homogeneous and is associated with impaired cognition. There are at least two loci for HSP-TCC, one of which is on chromosome 15q13–15.

Published
2004

5. Vacuolating megalencephalic leukoencephalopathy with subcortical cysts: functional studies of novel variants inMLC1

Author

Manuel Palacín, Koutarou Muraki, Raúl Estévez, Giorgia Montagna, Annalivia Loizzo, Enrico Bertini, Pietro Grosso, Bruce M. Cohen, Odile Boespflug-Tanguy, Eleonore Eymard-Pierre, Gioacchino Tedeschi, Filippo M. Santorelli, and Oscar Teijido

Subjects
MLC1, Adult, Male, leukodystrophy, Megalencephalic leukoencephalopathy with subcortical cysts, mutation detection, Adolescent, Xenopus, Molecular Sequence Data, Heterologous, Biology, medicine.disease_cause, Mutant protein, Genetics, medicine, Animals, Humans, Missense mutation, Amino Acid Sequence, Child, Gene, Genetics (clinical), Myelinopathy, Mutation, Base Sequence, Sequence Homology, Amino Acid, Cell Membrane, Leukodystrophy, Genetic Variation, Infant, Membrane Proteins, medicine.disease, Molecular biology, Hereditary Central Nervous System Demyelinating Diseases, Gene Expression Regulation, Child, Preschool, Oocytes, Female
Abstract

Nine new unrelated patients presenting vacuolating myelinopathy with subcortical cysts were identified and analyzed for variations in the MLC1 gene. We detected 12 mutations (p.Leu37fs, p.Met80Val, p.Leu83Phe, p.Pro92Ser, p.Ser93Leu, p.Ile108fs, p.Gly130Arg, p.Cys171fs, p.Glu202Lys, p.Ser269Tyr, p.Ala275Asn, and p.Leu310_311insLeu) of which nine were novel. In one patient we did not detect mutations. Using a heterologous system, three new missense variants (p.Glu202Lys, p.Ser269Tyr, and p.Ala275Asn) and a single leucine insertion (p.Leu310insLeu) — lying in a stretch of seven leucines — were functionally assayed by determining total protein levels and mutant protein expression at the plasma membrane. No correlation was observed between mutation, clinical features, and plasma membrane expression of mutant protein. © 2006 Wiley-Liss, Inc.

Published
2006
Full Text
View/download PDF

6. Identification of seven novel mutations in ABCD1 by a DHPLC-based assay in Italian patients with X-linked adrenoleukodystrophy

Author

Lucilla Attori, Natalia Cannelli, Diego Colabianchi, Filippo M. Santorelli, C. Patrono, Giorgia Montagna, Antonella Di Biase, Marco Cappa, Mariarosa A. B. Melone, Serafina Salvati, Roberto Cotrufo, Carlo Piantadosi, Montagna, G., DI BIASE, A., Cappa, M., Melone, Mariarosa Anna Beatrice, Piantadosi, C., Colabianchi, D., Patrono, C., Attori, L., Cannelli, N., Cotrufo, R., Salvati, S., and Santorelli, F.

Subjects
Male, DNA Mutational Analysis, Biology, medicine.disease_cause, ATP Binding Cassette Transporter, Subfamily D, Member 1, Peroxisomal disorder, Genetics, medicine, Humans, Adrenoleukodystrophy, Gene, Chromatography, High Pressure Liquid, Genetics (clinical), Mutation, adrenoleukodystrophy, x-linked, ABCD1, Chromosome, Heterozygote advantage, medicine.disease, Molecular biology, Xq28, Italy, ATP-Binding Cassette Transporters, Female
Abstract

We report the molecular findings in 14 patients (12 families) with X-linked adrenoleukodystrophy (X-ALD, MIM# 300100), a well-defined peroxisomal disorder attributed to mutations in the ABCD1 gene on chromosome Xq28. With the aims of determining the spectrum of mutations and developing an efficient molecular genetic test for analysis of at-risk women whose carrier status is unknown, and to offer molecular confirmation of their status to obligate heterozygotes, regardless of their clinical status, we carried out molecular screening by setting up a denaturing high-performance liquid chromatography (DHPLC)-based protocol. We identified eleven hemizygous base changes in ABCD1, including seven new mutations (c.145underscore;146ins4, c.264C>G, c.919C>T, c.994C>T, c.1027G>A, c.1508T>C, and c.1540A>C, resulting in the p.Pro193fs, p.Cys88Trp, p.Gln307X, p.Gln332X, p.Gly343Ser, p.Leu503Pro, and p.Ser514Arg changes, respectively). Adding new variants to the repertoire of ABCD1 mutations in X-ALD, our data provide an efficient, cost-effective, and reliable DHPLC detection protocol for mutation screening of X-ALD families.

Catalog

Books, media, physical & digital resources
See catalog results