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1
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
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Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

van Rheenen, Wouter ; Bakker, Mark K ; van Vugt, Joke J F A ; de Klein, Niek ; Westra, Harm-Jan ; Bakker, Olivier B ; Deelen, Patrick ; Hannon, Eilis ; Dolzhenko, Egor ; Gawor, Klara ; Westeneng, Henk-Jan ; Kooyman, Maarten ; Heverin, Mark ; Shatunov, Aleksey ; Ticozzi, Nicola ; Cooper-Knock, Johnathan ; Gromicho, Marta ; Chandran, Siddharthan ; Pal, Suvankar ; Shaw, Pamela J ; Hardy, John ; Orrell, Richard W ; Meyer, Thomas ; Lauria, Giuseppe ; Cereda, Cristina ; Sproviero, Daisy ; D'Alfonso, Sandra ; Sorarù, Gianni ; Siciliano, Gabriele ; Filosto, Massimiliano ; Padovani, Alessandro ; Calvo, Andrea ; Canosa, Antonio ; Grassano, Maurizio ; Beghi, Ettore ; Logroscino, Giancarlo ; Nefussy, Beatrice ; Lerner, Yossef ; Gotkine, Marc ; Baloh, Robert H ; Bell, Shaughn ; Vourc'h, Patrick ; Couratier, Philippe ; Salachas, François ; Assialioui, Abdelilah ; Dion, Patrick A ; Ross, Jay P ; Brenner, David ; Freischmidt, Axel ; Bensimon, Gilbert ; Brice, Alexis ; Saker-Delye, Safa ; Wood, Nicholas W ; Topp, Simon ; Lieb, Wolfgang ; Franke, Andre ; Ripke, Stephan ; Braun, Alice ; Hofman, Albert ; Cichon, Sven ; Nöthen, Markus M ; Traynor, Bryan J ; Singleton, Andrew B ; Mitne Neto, Miguel ; Ophoff, Roel A ; Wiedau-Pazos, Martina ; Lomen-Hoerth, Catherine ; Grosskreutz, Julian ; Gaur, Nayana ; Ilse, Benjamin ; Stubendorff, Beatrice ; Hübner, Christian A ; Graff, Caroline ; Fominykh, Vera ; Demeshonok, Vera ; Rogelj, Boris ; Zidar, Janez ; Ravnik-Glavač, Metka ; Drory, Vivian ; Povedano, Monica ; Blair, Ian P ; Kiernan, Matthew C ; McCombe, Pamela A ; Pamphlett, Roger ; Steyn, Frederik J ; de Carvalho, Mamede ; Petri, Susanne ; Weber, Markus ; Brown, Jr, Robert H ; Shaw, Christopher E ; Andersen, Peter M ; Groen, Ewout J N ; Garton, Fleur C ; Mill, Jonathan ; Hardiman, Orla ; Tsai, Ellen ; Runz, Heiko ; Al-Chalabi, Ammar ; van den Berg, Leonard H ; Veldink, Jan H

Nature genetics, 2021-12, Vol.53 (12), p.1636-1648 [Periódico revisado por pares]

United States: Nature Publishing Group

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2
POPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein trafficking
POPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein trafficking
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POPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein trafficking

Schindler, Roland F R ; Scotton, Chiara ; Zhang, Jianguo ; Passarelli, Chiara ; Ortiz-Bonnin, Beatriz ; Simrick, Subreena ; Schwerte, Thorsten ; Poon, Kar-Lai ; Fang, Mingyan ; Rinné, Susanne ; Froese, Alexander ; Nikolaev, Viacheslav O ; Grunert, Christiane ; Müller, Thomas ; Tasca, Giorgio ; Sarathchandra, Padmini ; Drago, Fabrizio ; Dallapiccola, Bruno ; Rapezzi, Claudio ; Arbustini, Eloisa ; Di Raimo, Francesca Romana ; Neri, Marcella ; Selvatici, Rita ; Gualandi, Francesca ; Fattori, Fabiana ; Pietrangelo, Antonello ; Li, Wenyan ; Jiang, Hui ; Xu, Xun ; Bertini, Enrico ; Decher, Niels ; Wang, Jun ; Brand, Thomas ; Ferlini, Alessandra

The Journal of clinical investigation, 2016-01, Vol.126 (1), p.239-253 [Periódico revisado por pares]

United States

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3
Association Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy
Association Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy
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Association Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy

Bello, Luca ; Flanigan, Kevin M. ; Weiss, Robert B. ; Dunn, Diane M. ; Swoboda, Kathryn J. ; Gappmaier, Eduard ; Howard, Michael T. ; Sampson, Jacinda B. ; Bromberg, Mark B. ; Butterfield, Russell ; Kerr, Lynne ; Pestronk, Alan ; Florence, Julaine M. ; Connolly, Anne ; Lopate, Glenn ; Golumbek, Paul ; Schierbecker, Jeanine ; Malkus, Betsy ; Renna, Renee ; Siener, Catherine ; Finkel, Richard S. ; Bonnemann, Carsten G. ; Medne, Livija ; Glanzman, Allan M. ; Flickinger, Jean ; Mendell, Jerry R. ; King, Wendy M. ; Lowes, Linda ; Alfano, Lindsay ; Mathews, Katherine D. ; Stephan, Carrie ; Laubenthal, Karla ; Baldwin, Kris ; Wong, Brenda ; Morehart, Paula ; Meyer, Amy ; Day, John W. ; Naughton, Cameron E. ; Margolis, Marcia ; Spitali, Pietro ; Aartsma-Rus, Annemieke ; Muntoni, Francesco ; Zaharieva, Irina ; Ferlini, Alessandra ; Mercuri, Eugenio ; Tuffery-Giraud, Sylvie ; Claustres, Mireille ; Straub, Volker ; Lochmüller, Hanns ; Barp, Andrea ; Vianello, Sara ; Pegoraro, Elena ; Punetha, Jaya ; Gordish-Dressman, Heather ; Giri, Mamta ; McDonald, Craig M. ; Hoffman, Eric P. ; Cnaan, Avital ; Abresch, Richard T. ; Henricson, Erik K. ; Morgenroth, Lauren P. ; Duong, Tina ; Chidambaranathan, V. Viswanathan ; Biggar, W. Douglas ; McAdam, Laura C. ; Mah, Jean ; Tulinius, Mar ; Leshner, Robert ; Rocha, Carolina Tesi ; Thangarajh, Mathula ; Kornberg, Andrew ; Ryan, Monique ; Nevo, Yoram ; Dubrovsky, Alberto ; Clemens, Paula R. ; Abdel-Hamid, Hoda ; Connolly, Anne M. ; Teasley, Jean ; Bertorini, Tulio E. ; North, Kathryn ; Webster, Richard ; Kolski, Hanna ; Kuntz, Nancy ; Driscoll, Sherilyn ; Carlo, Jose ; Gorni, Ksenija ; Lotze, Timothy ; Karachunski, Peter ; Bodensteiner, John B.

American journal of human genetics, 2016-11, Vol.99 (5), p.1163-1171 [Periódico revisado por pares]

United States: Elsevier Inc

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4
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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5
Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy
Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy
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Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy

Vattemi, G ; Neri, M ; Piffer, S ; Vicart, P ; Gualandi, F ; Marini, M ; Guglielmi, V ; Filosto, M ; Tonin, P ; Ferlini, A ; Tomelleri, G

Acta myologica, 2011-10, Vol.30 (2), p.121-126 [Periódico revisado por pares]

Italy: Pacini Editore SpA

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6
Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females
Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females
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Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females

VACCA, Marcella ; FILIPPINI, Francesco ; CALZOLARI, Elisa ; FERLINI, Alessandra ; MELONI, Ilaria ; HAYEK, Giuseppe ; ZAPPELLA, Michele ; RENIERI, Alessandra ; D'URSO, Michele ; D'ESPOSITO, Maurizio ; MACDONALD, Fiona ; KERR, Alison ; BUDILLON, Alberta ; DHANJAL, Seema ; HULTEN, Maj ; ROSSI, Valeria ; MERCADANTE, Grazia ; MANZATI, Elisa ; GUALANDI, Francesca ; BIGONI, Stefania ; TRABANELLI, Cecilia ; PINI, Giorgio

Journal of molecular medicine (Berlin, Germany), 2001-01, Vol.78 (11), p.648-655 [Periódico revisado por pares]

Berlin: Springer

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7
Is there selection in favour of heterozygotes in families with merosin-deficient congenital muscular dystrophy?
Is there selection in favour of heterozygotes in families with merosin-deficient congenital muscular dystrophy?
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Is there selection in favour of heterozygotes in families with merosin-deficient congenital muscular dystrophy?

D'ALESSANDRO, M ; NAOM, I ; FERLINI, A ; SEWRY, C ; DUBOWITZ, V ; MUNTONI, F

Human genetics, 1999-10, Vol.105 (4), p.308-313 [Periódico revisado por pares]

Heidelberg: Springer

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8
Mutation and transcription analysis of transthyretin gene in Italian families with hereditary amyloidosis: a putative novel 'hot spot' in codon 47
Mutation and transcription analysis of transthyretin gene in Italian families with hereditary amyloidosis: a putative novel 'hot spot' in codon 47
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Mutation and transcription analysis of transthyretin gene in Italian families with hereditary amyloidosis: a putative novel 'hot spot' in codon 47

Ferlini, A ; Obici, L ; Manzati, E ; Biadi, O ; Tarantino, E ; Conigli, P ; Merlini, G ; D'alessandro, M ; Mazzaferro, V ; Tassinari, Ca ; Salvi, F

Clinical genetics, 2000-04, Vol.57 (4), p.284-290 [Periódico revisado por pares]

Copenhagen: Munksgaard International Publishers

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