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Faculty of Medicine and Surgery
Department of Physiology and Biochemistry
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Results 1-6 of 6 (Search time: 0.011 seconds).
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Item hits:
Issue Date
Title
Author(s)
2017
A channelopathy mutation in the voltage-sensor discloses contributions of a conserved phenylalanine to gating properties of Kv1.1 channels and ataxia
Hasan, Sonia M.
;
Bove, Cecilia
;
Silvestri, Gabriella
;
Mantuano, Elide
;
Modoni, Anna
;
Veneziano, Liana
;
Macchioni, Lara
;
Hunter, Therese
;
Hunter, Gary J.
;
Pessia, Mauro
;
D'Adamo, Maria Cristina
2016
Gain-of-function defects of astrocytic Kir4.1 channels in children with autism spectrum disorders and epilepsy
Sicca, Federico
;
Ambrosini, Elena
;
Marchese, Maria
;
Sforna, Luigi
;
Servettini, Ilenio
;
Valvo, Giulia
;
Brignone, Maria Stefania
;
Lanciotti, Angela
;
Moro, Francesca
;
Grottesi, Alessandro
;
Catacuzzeno, Luigi
;
Baldini, Sara
;
Hasan, Sonia M.
;
D'Adamo, Maria Cristina
;
Franciolini, Fabio
;
Molinari, Paola
;
Santorelli, Filippo Maria
;
Pessia, Mauro
2015
New insights into the pathogenesis and therapeutics of episodic ataxia type 1
D'Adamo, Maria Cristina
;
Hasan, Sonia M.
;
Guglielmi, Luca
;
Servettini, Ilenio
;
Cenciarini, Marta
;
Catacuzzeno, Luigi
;
Franciolini, Fabio
2016
KCNA4 deficiency leads to a syndrome of abnormal striatum, congenital cataract and intellectual disability
Kaya, Namik
;
Alsagob, Maysoon
;
D'Adamo, Maria Cristina
;
Al-Bakheet, Albandary Bandary
;
Hasan, Sonia M.
;
Muccioli, Maria
;
Almutairi, Faten B.
;
Almass, Rawan
;
Aldosary, Mazhor S.
;
Monies, Dorota Marta
;
Mustafa, Osama M.
;
Alyounes, Banan
;
Kenana, Rosan
;
Al-Zahrani, Jawaher
;
Naim, Ewa A.
;
Binhumaid, Faisal S.
;
Qari, Alya A.
;
Almutairi, Fatema
;
Meyer, Brian Francis
;
Plageman, Timothy F.
;
Pessia, Mauro
;
Colak, Dilek
;
Al-Owain, Mohammed A.
2016
A Calsequestrin-1 mutation associated with a skeletal muscle disease alters sarcoplasmic Ca2+ release
D'Adamo, Maria Cristina
;
Sforna, Luigi
;
Visentin, Sergio
;
Grottesi, Alessandro
;
Servettini, Ilenio
;
Guglielmi, Luca
;
Macchioni, Lara
;
Saredi, Simona
;
Curcio, Maurizio
;
Nuccio, Chiara de
;
Hasan, Sonia M.
;
Corazzi, L.
;
Franciolini, Fabio
;
Mora, Marina
;
Catacuzzeno, Luigi
;
Pessia, Mauro
2017
Lethal digenic mutations in the K+ 1 channels Kir4.1 (KCNJ10) and SLACK 2 (KCNT1) associated with severe-disabling seizures and neurodevelopmental delay
Hasan, Sonia M.
;
Balobaid, Ameera
;
Grottesi, Alessandro
;
Dabbagh, Omar
;
Cenciarini, Marta
;
Rawashdeh, Rifaat
;
Al-Sagheir, Afaf
;
Bove, Cecilia
;
Macchioni, Lara
;
Pessia, Mauro
;
Al-Owain, Mohammed A.
;
D'Adamo, Maria Cristina
Discover
Author
5
Pessia, Mauro
3
Catacuzzeno, Luigi
3
Franciolini, Fabio
3
Grottesi, Alessandro
3
Macchioni, Lara
3
Servettini, Ilenio
2
Al-Owain, Mohammed A.
2
Bove, Cecilia
2
Cenciarini, Marta
.
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Subject
3
Ataxia
3
Potassium channels
2
Electrophysiology
1
Ataxia -- Genetic aspects
1
Autism in children
1
Autism in children -- Diagnosis
1
Autistic children
1
Calcium-binding protein genes
1
Cell aggregation
.
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