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Duchenne muscular dystrophy and epilepsy
Duchenne muscular dystrophy and epilepsy
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Duchenne muscular dystrophy and epilepsy

Pane, M ; Messina, S ; Bruno, C ; D’Amico, A ; Villanova, M ; Brancalion, B ; Sivo, S ; Bianco, F ; Striano, P ; Battaglia, D ; Lettori, D ; Vita, G.L ; Bertini, E ; Gualandi, F ; Ricotti, V ; Ferlini, A ; Mercuri, E

Neuromuscular disorders : NMD, 2013-04, Vol.23 (4), p.313-315 [Periódico revisado por pares]

England: Elsevier B.V

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2
S.P.39 BIO-NMD: An update on the discovery and validation of biomarkers for Neuromuscular Diseases (NMDs) – An EU funded FP7 project
S.P.39 BIO-NMD: An update on the discovery and validation of biomarkers for Neuromuscular Diseases (NMDs) – An EU funded FP7 project
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S.P.39 BIO-NMD: An update on the discovery and validation of biomarkers for Neuromuscular Diseases (NMDs) – An EU funded FP7 project

Ferlini, A ; Straub, V

Neuromuscular disorders : NMD, 2012-10, Vol.22 (9), p.883-883 [Periódico revisado por pares]

Elsevier B.V

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3
A novel phenotype associated with STIM1 gene: A case report of a patient with a painful myopathy
A novel phenotype associated with STIM1 gene: A case report of a patient with a painful myopathy
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A novel phenotype associated with STIM1 gene: A case report of a patient with a painful myopathy

Neri, M ; Harris, E ; Scotton, C ; Topf, A ; Fang, M ; Wang, J ; Barresi, R ; Lochmüller, H ; Straub, V ; Ferlini, A

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S255-S256 [Periódico revisado por pares]

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4
Next generation sequencing identifies a novel ATP7A mutation in two brothers with distal hereditary motor neuropathy and autonomic dysfunction
Next generation sequencing identifies a novel ATP7A mutation in two brothers with distal hereditary motor neuropathy and autonomic dysfunction
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Next generation sequencing identifies a novel ATP7A mutation in two brothers with distal hereditary motor neuropathy and autonomic dysfunction

Scotton, C ; Italyankina, E ; Storbeck, M ; Vezyroglou, K ; Heller, R ; Neri, M ; Di Raimo, F ; Mauro, A ; Tugnoli, V ; Timmerman, V ; Wirth, B ; De Grandis, D ; Gualandi, F ; Ferlini, A

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S224-S225 [Periódico revisado por pares]

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5
A novel STIM1 mutation at p.340 causes tubular aggregate myopathy with miosis without additional features of Stormorken syndrome
A novel STIM1 mutation at p.340 causes tubular aggregate myopathy with miosis without additional features of Stormorken syndrome
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A novel STIM1 mutation at p.340 causes tubular aggregate myopathy with miosis without additional features of Stormorken syndrome

Harris, E ; Hudson, J ; Marsh, J ; Marini Bettolo, C ; Neri, M ; Ferlini, A ; Bushby, K ; Lochmüller, H ; Straub, V ; Barresi, R

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S289-S289 [Periódico revisado por pares]

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6
Co-ultramicronized Palmitoylethanolamide/Luteolin in the Treatment of Cerebral Ischemia: from Rodent to Man
Co-ultramicronized Palmitoylethanolamide/Luteolin in the Treatment of Cerebral Ischemia: from Rodent to Man
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Co-ultramicronized Palmitoylethanolamide/Luteolin in the Treatment of Cerebral Ischemia: from Rodent to Man

Caltagirone, Carlo ; Cisari, Carlo ; Schievano, Carlo ; Di Paola, Rosanna ; Cordaro, Marika ; Bruschetta, Giuseppe ; Esposito, Emanuela ; Cuzzocrea, Salvatore

Translational stroke research, 2016-02, Vol.7 (1), p.54-69 [Periódico revisado por pares]

New York: Springer US

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7
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders
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Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders

Travaglini, Lorena ; Brancati, Francesco ; Silhavy, Jennifer ; Iannicelli, Miriam ; Nickerson, Elizabeth ; Elkhartoufi, Nadia ; Scott, Eric ; Spencer, Emily ; Gabriel, Stacey ; Thomas, Sophie ; Ben-Zeev, Bruria ; Bertini, Enrico ; Boltshauser, Eugen ; Chaouch, Malika ; Cilio, Maria Roberta ; de Jong, Mirjam M ; Kayserili, Hulya ; Ogur, Gonul ; Poretti, Andrea ; Signorini, Sabrina ; Uziel, Graziella ; Zaki, Maha S ; Johnson, Colin ; Attié-Bitach, Tania ; Gleeson, Joseph G ; Valente, Enza Maria

European journal of human genetics : EJHG, 2013-10, Vol.21 (10), p.1074-1078 [Periódico revisado por pares]

England: Nature Publishing Group

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8
Brody Disease: Insights Into Biochemical Features of SERCA1 and Identification of a Novel Mutation
Brody Disease: Insights Into Biochemical Features of SERCA1 and Identification of a Novel Mutation
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Brody Disease: Insights Into Biochemical Features of SERCA1 and Identification of a Novel Mutation

Vattemi, Gaetano ; Gualandi, Francesca ; Oosterhof, Arie ; Marini, Matteo ; Tonin, Paola ; Rimessi, Paola ; Neri, Marcella ; Guglielmi, Valeria ; Russignan, Anna ; Poli, Consuelo ; van Kuppevelt, Toin H ; Ferlini, Alessandra ; Tomelleri, Giuliano

Journal of neuropathology and experimental neurology, 2010-03, Vol.69 (3), p.246-252 [Periódico revisado por pares]

Hagerstown, MD: American Association of Neuropathologists, Inc

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9
T.P.31 Biochemical and clinical variability of Becker muscular dystrophy: Predicting optimal target exons for exon skipping therapy in Duchenne muscular dystrophy
T.P.31 Biochemical and clinical variability of Becker muscular dystrophy: Predicting optimal target exons for exon skipping therapy in Duchenne muscular dystrophy
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T.P.31 Biochemical and clinical variability of Becker muscular dystrophy: Predicting optimal target exons for exon skipping therapy in Duchenne muscular dystrophy

Anthony, K ; Arechavala-Gomeza, V ; Ricotti, V ; Torelli, S ; Feng, L ; Tasca, G ; Guglieri, M ; Barresi, R ; Armaroli, A ; Ferlini, A ; Bushby, K ; Straub, V ; Ricci, E ; Sewry, C ; Morgan, J ; Muntoni, F

Neuromuscular disorders : NMD, 2012-10, Vol.22 (9), p.862-862 [Periódico revisado por pares]

Elsevier B.V

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10
P01 Correlation of internally deleted dystrophin and dystrophin-associated protein expression with clinical severity in Becker muscular dystrophy
P01 Correlation of internally deleted dystrophin and dystrophin-associated protein expression with clinical severity in Becker muscular dystrophy
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P01 Correlation of internally deleted dystrophin and dystrophin-associated protein expression with clinical severity in Becker muscular dystrophy

Anthony, K ; Cirak, S ; Torelli, S ; Tasca, G ; Feng, L ; Arechavala-Gomeza, V ; Armaroli, A ; Guglieri, M ; Straathof, C ; Verschuuren, J ; Artsma-Rus, A ; Helderman-van den Enden, P ; Bushby, K ; Straub, V ; Sewry, C ; Ferlini, A ; Ricci, E ; Morgan, J ; Muntoni, F

Neuromuscular disorders : NMD, 2012-03, Vol.22, p.S7-S7 [Periódico revisado por pares]

Elsevier B.V

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