Search Results - "Pollini, Luca"

KCND3 -Related Neurological Disorders: From Old to Emerging Clinical Phenotypes by Pollini, Luca, Galosi, Serena, Tolve, Manuela, Caputi, Caterina, Carducci, Carla, Angeloni, Antonio, Leuzzi, Vincenzo

“…encodes the voltage-gated potassium ion channel subfamily D member 3, a six trans-membrane protein (Kv4.3), involved in the transient outward K current. defect…”
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Motor, epileptic, and developmental phenotypes in genetic disorders affecting G protein coupled receptors-cAMP signaling by Galosi, Serena, Pollini, Luca, Novelli, Maria, Bernardi, Katerina, Di Rocco, Martina, Martinelli, Simone, Leuzzi, Vincenzo

“…Over the last years, a constantly increasing number of genetic diseases associated with epilepsy and movement disorders have been recognized. An emerging group…”
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Multiple sclerosis and intracellular cobalamin defect (MMACHC/PRDX1) comorbidity in a young male by Pollini, Luca, Tolve, Manuela, Nardecchia, Francesca, Galosi, Serena, Carducci, Claudia, di Carlo, Emanuele, Carducci, Carla, Leuzzi, Vincenzo

“…Methylmalonic acidaemia with homocystinuria type C (cblC defect) is an inherited error of cobalamin metabolism. Cobalamin deficient processing results in high…”
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Traffic Management Applications for Stateful SDN Data Plane by Cascone, Carmelo, Pollini, Luca, Sanvito, Davide, Capone, Antonio

“…The successful Open Flow approach to Software Defined Networking (SDN) allows network programmability through a central controller able to orchestrate a set of…”
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GNAO1 Haploinsufficiency: The Milder End of the GNAO1 Phenotypic Spectrum by Galosi, Serena, Novelli, Maria, Di Rocco, Martina, Flex, Elisabetta, Messina, Elena, Pollini, Luca, Parrini, Elena, Pisani, Francesco, Guerrini, Renzo, Leuzzi, Vincenzo, Martinelli, Simone

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GNAO1-related movement disorder: An update on phenomenology, clinical course, and response to treatments by Novelli, Maria, Galosi, Serena, Zorzi, Giovanna, Martinelli, Simone, Capuano, Alessandro, Nardecchia, Francesca, Granata, Tiziana, Pollini, Luca, Di Rocco, Martina, Marras, Carlo Efisio, Nardocci, Nardo, Leuzzi, Vincenzo

“…To evaluate clinical phenotype and molecular findings of 157 cases with GNAO1 pathogenic or likely pathogenic variants delineating the clinical spectrum,…”
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Reply to: Partially Levodopa‐Responsive Parkinsonism in a Carrier of a Novel Pathogenic CLTC Variant by Nardecchia, Francesca, Martinelli, Simone, Pollini, Luca, Leuzzi, Vincenzo

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Fast failure detection and recovery in SDN with stateful data plane by Cascone, Carmelo, Sanvito, Davide, Pollini, Luca, Capone, Antonio, Sansò, Brunilde

“…SUMMARY When dealing with node or link failures in software‐defined networking (SDN), the network capability to establish an alternative path depends on…”
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Negative Myoclonus: Neurophysiological Study and Clinical Impact in Progressive Myoclonus Ataxia by Pollini, Luca, Veen, Sterre, Elting, Jan Willem J., Tijssen, Marina A.J.

“…Introduction Negative myoclonus (NM) is an involuntary movement caused by a sudden interruption of muscular activity, resulting in gait problems and falls…”
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Attention in Parkinson’s disease with fatigue: evidence from the attention network test by Pauletti, Caterina, Mannarelli, Daniela, Locuratolo, Nicoletta, Pollini, Luca, Currà, Antonio, Marinelli, Lucio, Rinalduzzi, Steno, Fattapposta, Francesco

“…Fatigue is a non-specific symptom that is common in chronic diseases and represents one of the most disabling symptoms in Parkinson’s disease. PD patients…”
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Neurophysiological assessment of juvenile parkinsonism due to primary monoamine neurotransmitter disorders by Passaretti, Massimiliano, Pollini, Luca, Paparella, Giulia, De Biase, Alessandro, Colella, Donato, Angelini, Luca, Galosi, Serena, Manti, Filippo, Guerra, Andrea, Leuzzi, Vincenzo, Berardelli, Alfredo, Bologna, Matteo

“…No studies have investigated voluntary movement abnormalities and their neurophysiological correlates in patients with parkinsonism due to inherited primary…”
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CACNA1G Causes Dominantly Inherited Myoclonus-Ataxia with Intellectual Disability: A Case Report by De Riggi, Martina, De Giorgi, Agnese, Pollini, Luca, Angelini, Luca, Paparella, Giulia, Cannavacciuolo, Antonio, Birreci, Daniele, Costa, Davide, Tessa, Alessandra, Natale, Gemma, Fiorelli, Marco, Galatolo, Daniele, Santorelli, Filippo Maria, Galosi, Serena, Bologna, Matteo

“…Spinocerebellar ataxias (SCAs) are characterized by substantial phenotypic variability. Among them, SCA42 is a rare non-expansion entity presenting with slowly…”
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Fever‐Induced and Early Morning Paroxysmal Dyskinesia in a Man With GNB1 Encephalopathy by Galosi, Serena, Pollini, Luca, Nardecchia, Francesca, Cellini, Elena, Guerrini, Renzo, Leuzzi, Vincenzo

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Improvement of Movement Disorder and Neurodevelopment under Selegiline in a CLTC‐Deficient Patient by Nardecchia, Francesca, Bove, Rossella, Pollini, Luca, Giannini, Maria Teresa, Manti, Filippo, De Giorgi, Agnese, Papoff, Paola, Martinelli, Simone, Leuzzi, Vincenzo

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Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene by Marti‐Sanchez, Laura, Baide‐Mairena, Heidy, Marcé‐Grau, Anna, Pons, Roser, Skouma, Anastasia, López‐Laso, Eduardo, Sigatullina, Maria, Rizzo, Cristiano, Semeraro, Michela, Martinelli, Diego, Carrozzo, Rosalba, Dionisi‐Vici, Carlo, González‐Gutiérrez‐Solana, Luis, Correa‐Vela, Marta, Ortigoza‐Escobar, Juan Dario, Sánchez‐Montañez, Ángel, Vazquez, Élida, Delgado, Ignacio, Aguilera‐Albesa, Sergio, Yoldi, María Eugenia, Ribes, Antonia, Tort, Frederic, Pollini, Luca, Galosi, Serena, Leuzzi, Vincenzo, Tolve, Manuela, Pérez‐Gay, Laura, Aldamiz‐Echevarría, Luis, Del Toro, Mireia, Arranz, Antonio, Roelens, Filip, Urreizti, Roser, Artuch, Rafael, Macaya, Alfons, Pérez‐Dueñas, Belén

“…The neurological phenotype of 3‐hydroxyisobutyryl‐CoA hydrolase (HIBCH) and short‐chain enoyl‐CoA hydratase (SCEH) defects is expanding and natural history…”
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Parkinsonism, Intellectual Disability, and Catatonia in a Young Male With MECP2 Variant by Pollini, Luca, Galosi, Serena, Nardecchia, Francesca, Musacchia, Francesco, Castello, Raffaele, Nigro, Vincenzo, Leuzzi, Vincenzo

“…View Supplementary Video 1…”
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Neurophysiological Analysis of Cortical Myoclonic Tremor and Excessive Startle in ARHGEF9 Deficiency by Pollini, Luca, Greco, Carlo, Novelli, Maria, Mei, Davide, Pisani, Francesco, De Koning‐Tijssen, Marina A.J., Guerrini, Renzo, Leuzzi, Vincenzo, Galosi, Serena

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SPIDER: Fault resilient SDN pipeline with recovery delay guarantees by Cascone, Carmelo, Pollini, Luca, Sanvito, Davide, Capone, Antonio, Sanso, Brunilde

“…When dealing with node or link failures in Software Defined Networking (SDN), the network capability to establish an alternative path depends on controller…”
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Fever-Induced and Early Morning Paroxysmal Dyskinesia in a Man With GNB1 Encephalopathy by Galosi, Serena, Pollini, Luca, Nardecchia, Francesca, Cellini, Elena, Guerrini, Renzo, Leuzzi, Vincenzo

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SPIDER: Fault Resilient SDN Pipeline with Recovery Delay Guarantees by Cascone, Carmelo, Pollini, Luca, Sanvito, Davide, Capone, Antonio, Sansò, Brunilde

“…When dealing with node or link failures in Software Defined Networking (SDN), the network capability to establish an alternative path depends on controller…”
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