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The p.Arg416Cys mutation in SPG3a gene associated with a pure form of spastic paraplegia. [electronic resource] by
- Magariello, Angela
- Tortorella, Carla
- Citrigno, Luigi
- Patitucci, Alessandra
- Tortelli, Rosanna
- Mazzei, Rosalucia
- Conforti, Francesca Luisa
- Ungaro, Carmine
- Sproviero, William
- Gambardella, Antonio
- Muglia, Maria
Producer: 20120726
In:
Muscle & nerve vol. 45
Availability: No items available.
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9.
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Motor-sensory neuropathy without minifascicles in a patient with 46XY gonadal dysgenesis. [electronic resource] by
- Malandrini, Alessandro
- Gambelli, Simona
- Muglia, Maria
- Berti, Gianna
- Gaudiano, Carmen
- Patitucci, Alessandra
- Sugie, Kazuma
- Umehara, Fujio
- Quattrone, Aldo
- Dotti, Maria Teresa
- Federico, Antonio
Producer: 20080609
In:
Brain & development vol. 30
Availability: No items available.
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10.
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A longitudinal observation of brain-derived neurotrophic factor mRNA levels in patients with relapsing-remitting multiple sclerosis. [electronic resource] by
- Liguori, Maria
- Fera, Francesco
- Patitucci, Alessandra
- Manna, Ida
- Condino, Francesca
- Valentino, Paola
- Telarico, Pierangela
- Cerasa, Antonio
- Gioia, Maria Cecilia
- di Palma, Gemma
- Quattrone, Aldo
Producer: 20090316
In:
Brain research vol. 1256
Availability: No items available.
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11.
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A novel mutation in the CLN1 gene in a patient with juvenile neuronal ceroid lipofuscinosis. [electronic resource] by
- Mazzei, Rosalucia
- Conforti, Francesca L
- Magariello, Angela
- Bravaccio, Carmela
- Militerni, Roberto
- Gabriele, Anna L
- Sampaolo, Simone
- Patitucci, Alessandra
- Di Iorio, Giuseppe
- Muglia, Maria
- Quattrone, Aldo
Producer: 20030317
In:
Journal of neurology vol. 249
Availability: No items available.
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Abnormally high levels of SOD1 mRNA in a patient with amyotrophic lateral sclerosis. [electronic resource] by
- Conforti, Francesca Luisa
- Magariello, Angela
- Mazzei, Rosalucia
- Sprovieri, Teresa
- Patitucci, Alessandra
- Crescibene, Lucia
- Bastone, Loredana
- Gabriele, AnnaLia
- Scornaienchi, Massimo
- Ferraro, Tiziana
- Muglia, Maria
- Quattrone, Aldo
Producer: 20040429
In:
Muscle & nerve vol. 29
Availability: No items available.
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Mutation analysis of the MECP2 gene in patients with Rett syndrome. [electronic resource] by
- Conforti, Francesca L
- Mazzei, Rosalucia
- Magariello, Angela
- Patitucci, Alessandra
- Gabriele, Anna L
- Muglia, Maria
- Quattrone, Aldo
- Fiumara, Agata
- Barone, Rita
- Pavone, Lorenzo
- Nisticò, Rita
- Mangone, Loredana
Producer: 20030807
In:
American journal of medical genetics. Part A vol. 117A
Availability: No items available.
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14.
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Further evidence that SPG3A gene mutations cause autosomal dominant hereditary spastic paraplegia. [electronic resource] by
- Muglia, Maria
- Magariello, Angela
- Nicoletti, Giuseppe
- Patitucci, Alessandra
- Gabriele, Anna Lia
- Conforti, Francesca Luisa
- Mazzei, Rosalucia
- Caracciolo, Manuela
- Ardito, Bonaventura
- Lastilla, Marcello
- Tedeschi, Gioacchino
- Quattrone, Aldo
Producer: 20020809
In:
Annals of neurology vol. 51
Availability: No items available.
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15.
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A large family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3. [electronic resource] by
- Muglia, Maria
- Magariello, Angela
- Nicoletti, Giuseppe
- Patitucci, Alessandra
- Gabriele, Anna Lia
- Conforti, Francesca Luisa
- Mazzei, Rosalucia
- Caracciolo, Manuela
- Casari, Giorgio
- Ardito, Bonaventura
- Lastilla, Marcello
- Gambardella, Antonio
- Quattrone, Aldo
Producer: 20030317
In:
Journal of neurology vol. 249
Availability: No items available.
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A novel NF1 gene mutation in an Italian family with neurofibromatosis type 1. [electronic resource] by
- Gabriele, Anna Lia
- Ruggieri, Martino
- Patitucci, Alessandra
- Magariello, Angela
- Conforti, Francesca Luisa
- Mazzei, Rosalucia
- Muglia, Maria
- Ungaro, Carmine
- Di Palma, Gemma
- Citrigno, Luigi
- Sproviero, William
- Gambardella, Antonio
- Quattrone, Aldo
Producer: 20110706
In:
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery vol. 27
Availability: No items available.
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17.
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A novel point mutation in PMP22 gene in an Italian family with hereditary neuropathy with liability to pressure palsies. [electronic resource] by
- Muglia, Maria
- Patitucci, Alessandra
- Rizzi, Romana
- Ungaro, Carmine
- Conforti, Francesca Luisa
- Gabriele, Anna Lia
- Magariello, Angela
- Mazzei, Rosalucia
- Motti, Luisa
- Sabadini, Rossella
- Sprovieri, Teresa
- Marcello, Norina
- Quattrone, Aldo
Producer: 20080214
In:
Journal of the neurological sciences vol. 263
Availability: No items available.
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Further evidence of genetic heterogeneity in autosomal dominant distal motor neuronopathy. [electronic resource] by
- Passamonti, Luca
- Muglia, Maria
- Magariello, Angela
- Bellesi, Michele
- Conforti, Francesca Luisa
- Mazzei, Rosalucia
- Patitucci, Alessandra
- Gabriele, Anna Lia
- Sprovieri, Teresa
- Peluso, Giuseppina
- Caracciolo, Manuela
- Medici, Emanuele
- Logullo, Francesco
- Provinciali, Leandro
- Quattrone, Aldo
Producer: 20050131
In:
Neuromuscular disorders : NMD vol. 14
Availability: No items available.
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19.
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Sporadic ALS is not associated with VAPB gene mutations in Southern Italy. [electronic resource] by
- Conforti, Francesca Luisa
- Sprovieri, Teresa
- Mazzei, Rosalucia
- Ungaro, Carmine
- Tessitore, Alessandro
- Tedeschi, Gioacchino
- Patitucci, Alessandra
- Magariello, Angela
- Gabriele, Annalia
- Labella, Vincenzo
- Simone, Isabella Laura
- Majorana, Giovanni
- Monsurrò, Maria Rosaria
- Valentino, Paola
- Muglia, Maria
- Quattrone, Aldo
Producer: 20060720
In:
Journal of negative results in biomedicine vol. 5
Availability: No items available.
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20.
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Comparison of different techniques for detecting 17p12 duplication in CMT1A. [electronic resource] by
- Patitucci, Alessandra
- Muglia, Maria
- Magariello, Angela
- Gabriele, Anna Lia
- Peluso, Giuseppina
- Sprovieri, Teresa
- Conforti, Francesca Luisa
- Mazzei, Rosalucia
- Ungaro, Carmine
- Condino, Francesca
- Valentino, Paola
- Bono, Franco
- Rodolico, Carmelo
- Mazzeo, Anna
- Toscano, Antonio
- Vita, Giuseppe
- Quattrone, Aldo
Producer: 20050930
In:
Neuromuscular disorders : NMD vol. 15
Availability: No items available.
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