Search Results - "Loi, Mario"

Lowe syndrome by Loi, Mario

“…Lowe syndrome (the oculocerebrorenal syndrome of Lowe, OCRL) is a multisystem disorder characterised by anomalies affecting the eye, the nervous system and the…”
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Reflex periodic spasms induced by eating by Labate, Angelo, Colosimo, Eleonora, Gambardella, Antonio, Leggio, Ugo, Ambrosio, Roberta, Loi, Mario, Quattrone, Aldo

“…We report on two patients with reflex periodic spasms (PS) triggered by eating. Both patients also had significant cognitive and motor deficits. In both…”
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A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome by Cau, Milena, Addis, Maria, Congiu, Rita, Meloni, Cristiana, Cao, Antonio, Santaniello, Simona, Loi, Mario, Emma, Francesco, Zuffardi, Orsetta, Ciccone, Roberto, Sole, Gabriella, Melis, Maria Antonietta

“…In mammals, X-linked gene products can be dosage compensated between males and females by inactivation of one of the two X chromosomes in the developing female…”
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Defective temporal processing of sensory stimuli in DYT1 mutation carriers: a new endophenotype of dystonia? by Fiorio, Mirta, Gambarin, Mattia, Valente, Enza Maria, Liberini, Paolo, Loi, Mario, Cossu, Giovanni, Moretto, Giuseppe, Bhatia, Kailash P., Defazio, Giovanni, Aglioti, Salvatore M., Fiaschi, Antonio, Tinazzi, Michele

“…DYT1 primary torsion dystonia is an autosomal dominant movement disorder due to a 3-bp GAG deletion in the TOR1A gene, which becomes manifest in only 30–40% of…”
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Ring 20 syndrome mosaicism and epilepsy: a case with duplication of two BAC clones in 20q11.21-q11.22 defined by genome array-CGH by Cabras, Valentina, Erriu, Matteo, Loi, Mario, Milia, Angela, Montaldo, Caterina, Nucaro, Anna Lisa

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OCRL mutation analysis in Italian patients with Lowe syndrome by Addis, Maria, Loi, Mario, Lepiani, Carmen, Cau, Milena, Melis, Maria Antonietta

“…The oculocerebrorenal syndrome of Lowe (OCRL, also called OCRL1) is a rare X-linked disorder characterized by major abnormalities of eyes, nervous system, and…”
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C329X in KRIT1 is a founder mutation among CCM patients in Sardinia by Cau, Milena, Loi, Mario, Melis, Maurizio, Congiu, Rita, Loi, Alberto, Meloni, Cristiana, Serrenti, Marianna, Addis, Maria, Melis, Maria Antonietta

“…Abstract Cerebral cavernous malformations (CCMs) are CNS vascular anomalies associated with seizures, headaches and hemorrhagic strokes and represent 10–20% of…”
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Defective temporal processing of sensory stimuli in DYTI mutation carriers : a new endophenotype of dystonia? by FIORIO, Mirta, GAMBARIN, Mattia, FIASCHI, Antonio, TINAZZI, Michele, VALENTE, Enza Maria, LIBERINI, Paolo, LOI, Mario, COSSU, Giovanni, MORETTO, Giuseppe, BHATIA, Kailash P, DEFAZIO, Giovanni, AGLIOTI, Salvatore M

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Familial translocation t(3;10) (p26.3;p12.31) leading to trisomy 10p12.31 → pter and monosomy 3p26.3 → pter in seven members by Nucaro, Anna Lisa, Meloni, Marta, Pisano, Tiziana, Melis, Paola, Rossi, Elena, Rossino, Rossano, Corona, Simona, Loi, Mario, Achena, Francesco, Zuffardi, Orsetta, Cianchetti, Carlo

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Familial translocation t(3; 10) (p26.3; p12.31) leading to trisomy 10p12.31 Delta RT pter and monosomy 3p26.3 Delta RT pter in seven members by Nucaro, Anna Lisa, Meloni, Marta, Pisano, Tiziana, Melis, Paola, Rossi, Elena, Rossino, Rossano, Corona, Simona, Loi, Mario, Achena, Francesco, Zuffardi, Orsetta, Cianchetti, Carlo

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Phenotypic variability of DYT1-PTD: Does the clinical spectrum include psychogenic dystonia? by Bentivoglio, Anna Rita, Loi, Mario, Valente, Enza M., Ialongo, Tamara, Tonali, Pietro, Albanese, Alberto

“…Primary torsion dystonia (PTD) is a clinically and genetically heterogeneous group of movement disorders, usually inherited in an autosomal dominant manner…”
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OCRLMutation analysis in Italian patients with Lowe syndrome by Addis, Maria, Loi, Mario, Lepiani, Carmen, Cau, Milena, Melis, Maria Antonietta

“…The oculocerebrorenal syndrome of Lowe (OCRL, also called OCRL1) is a rare X‐linked disorder characterized by major abnormalities of eyes, nervous system, and…”
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Phenotypic variability of DYTI-PTD: Does the clinical spectrum include psychogenic dystonia? by BENTIVOGLIO, Anna Rita, LOI, Mario, VALENTE, Enza M, IALONGO, Tamara, TONALI, Pietro, ALBANESE, Alberto

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