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1.

PIEZO2 in somatosensory neurons controls gastrointestinal transit.

Servin-Vences, M Rocio; Lam, Ruby M; Koolen, Alize; Wang, Yu; Saade, Dimah N; Loud, Meaghan; Kacmaz, Halil; Frausto, Suzanne; Zhang, Yunxiao; Beyder, Arthur; Marshall, Kara L; Bönnemann, Carsten G; Chesler, Alexander T; Patapoutian, Ardem.

Cell ; 186(16): 3386-3399.e15, 2023 08 03.

Artículo en Inglés | MEDLINE | ID: mdl-37541196

2.

Designer AAV muscle up.

Bönnemann, Carsten G.

Cell ; 184(19): 4845-4847, 2021 09 16.

Artículo en Inglés | MEDLINE | ID: mdl-34534462

3.

Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease.

Lemire, Gabrielle; Sanchis-Juan, Alba; Russell, Kathryn; Baxter, Samantha; Chao, Katherine R; Singer-Berk, Moriel; Groopman, Emily; Wong, Isaac; England, Eleina; Goodrich, Julia; Pais, Lynn; Austin-Tse, Christina; DiTroia, Stephanie; O'Heir, Emily; Ganesh, Vijay S; Wojcik, Monica H; Evangelista, Emily; Snow, Hana; Osei-Owusu, Ikeoluwa; Fu, Jack; Singh, Mugdha; Mostovoy, Yulia; Huang, Steve; Garimella, Kiran; Kirkham, Samantha L; Neil, Jennifer E; Shao, Diane D; Walsh, Christopher A; Argilli, Emanuela; Le, Carolyn; Sherr, Elliott H; Gleeson, Joseph G; Shril, Shirlee; Schneider, Ronen; Hildebrandt, Friedhelm; Sankaran, Vijay G; Madden, Jill A; Genetti, Casie A; Beggs, Alan H; Agrawal, Pankaj B; Bujakowska, Kinga M; Place, Emily; Pierce, Eric A; Donkervoort, Sandra; Bönnemann, Carsten G; Gallacher, Lyndon; Stark, Zornitza; Tan, Tiong Yang; White, Susan M; Töpf, Ana.

Am J Hum Genet ; 111(5): 863-876, 2024 May 02.

Artículo en Inglés | MEDLINE | ID: mdl-38565148

4.

Intrathecal Gene Therapy for Giant Axonal Neuropathy.

Bharucha-Goebel, Diana X; Todd, Joshua J; Saade, Dimah; Norato, Gina; Jain, Minal; Lehky, Tanya; Bailey, Rachel M; Chichester, Jessica A; Calcedo, Roberto; Armao, Diane; Foley, A Reghan; Mohassel, Payam; Tesfaye, Eshetu; Carlin, Bradley P; Seremula, Beth; Waite, Melissa; Zein, Wadih M; Huryn, Laryssa A; Crawford, Thomas O; Sumner, Charlotte J; Hoke, Ahmet; Heiss, John D; Charnas, Lawrence; Hooper, Jody E; Bouldin, Thomas W; Kang, Elizabeth M; Rybin, Denis; Gray, Steven J; Bönnemann, Carsten G.

N Engl J Med ; 390(12): 1092-1104, 2024 03 21.

Artículo en Inglés | MEDLINE | ID: mdl-38507752

5.

Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy.

Morales-Rosado, Joel A; Schwab, Tanya L; Macklin-Mantia, Sarah K; Foley, A Reghan; Pinto E Vairo, Filippo; Pehlivan, Davut; Donkervoort, Sandra; Rosenfeld, Jill A; Boyum, Grace E; Hu, Ying; Cong, Anh T Q; Lotze, Timothy E; Mohila, Carrie A; Saade, Dimah; Bharucha-Goebel, Diana; Chao, Katherine R; Grunseich, Christopher; Bruels, Christine C; Littel, Hannah R; Estrella, Elicia A; Pais, Lynn; Kang, Peter B; Zimmermann, Michael T; Lupski, James R; Lee, Brendan; Schellenberg, Matthew J; Clark, Karl J; Wierenga, Klaas J; Bönnemann, Carsten G; Klee, Eric W.

Am J Hum Genet ; 110(6): 989-997, 2023 06 01.

Artículo en Inglés | MEDLINE | ID: mdl-37167966

6.

PIEZO2 in sensory neurons and urothelial cells coordinates urination.

Marshall, Kara L; Saade, Dimah; Ghitani, Nima; Coombs, Adam M; Szczot, Marcin; Keller, Jason; Ogata, Tracy; Daou, Ihab; Stowers, Lisa T; Bönnemann, Carsten G; Chesler, Alexander T; Patapoutian, Ardem.

Nature ; 588(7837): 290-295, 2020 12.

Artículo en Inglés | MEDLINE | ID: mdl-33057202

7.

The expanding clinical and genetic spectrum of DYNC1H1-related disorders.

Möller, Birk; Becker, Lena-Luise; Saffari, Afshin; Afenjar, Alexandra; Coci, Emanuele G; Williamson, Rachel; Ward-Melver, Catherine; Gibaud, Marc; Sedlácková, Lucie; Lassuthová, Petra; Libá, Zuzana; Vlcková, Markéta; William, Nancy; Klee, Eric W; Gavrilova, Ralitza H; Lévy, Jonathan; Capri, Yline; Scavina, Mena; Körner, Robert Walter; Valuvullah, Zaheer; Weiß, Claudia; Möller, Greta Marit; Thiel, Moritz; Sinnema, Margje; Kamsteeg, Erik-Jan; Donkervoort, Sandra; Duboc, Veronique; Zaafrane-Khachnaoui, Khaoula; Elkhateeb, Nour; Selim, Laila; Margot, Henri; Marin, Victor; Beneteau, Claire; Isidor, Bertrand; Cogne, Benjamin; Keren, Boris; Küsters, Benno; Beggs, Alan H; Genetti, Casie A; Nicolai, Joost; Dötsch, Jörg; Koy, Anne; Bönnemann, Carsten G; von der Hagen, Maja; von Kleist-Retzow, Jürgen-Christoph; Voermans, Nicol; Jungbluth, Heinz; Dafsari, Hormos Salimi.

Brain ; 2024 Jun 08.

Artículo en Inglés | MEDLINE | ID: mdl-38848546

8.

Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.

Jeffries, Lauren; Mis, Emily K; McWalter, Kirsty; Donkervoort, Sandra; Brodsky, Nina N; Carpier, Jean-Marie; Ji, Weizhen; Ionita, Cristian; Roy, Bhaskar; Morrow, Jon S; Darbinyan, Armine; Iyer, Krishna; Aul, Ritu B; Banka, Siddharth; Chao, Katherine R; Cobbold, Laura; Cohen, Stacey; Custodio, Helena M; Drummond-Borg, Margaret; Elmslie, Frances; Finanger, Erika; Hainline, Bryan E; Helbig, Ingo; Hewson, Stacy; Hu, Ying; Jackson, Adam; Josifova, Dragana; Konstantino, Monica; Leach, Meganne E; Mak, Bryan; McCormick, David; McGee, Elisabeth; Nelson, Stanley; Nguyen, Joanne; Nugent, Kimberly; Ortega, Lucy; Goodkin, Howard P; Roeder, Elizabeth; Roy, Sani; Sapp, Katie; Saade, Dimah; Sisodiya, Sanjay M; Stals, Karen; Towner, Shelley; Wilson, William; Khokha, Mustafa K; Bönnemann, Carsten G; Lucas, Carrie L; Lakhani, Saquib A.

Genet Med ; 26(2): 101023, 2024 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-37947183

9.

Recurrent de-novo gain-of-function mutation in SPTLC2 confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis.

Dohrn, Maike F; Beijer, Danique; Lone, Museer A; Bayraktar, Elif; Oflazer, Piraye; Orbach, Rotem; Donkervoort, Sandra; Foley, A Reghan; Rose, Aubrey; Lyons, Michael; Louie, Raymond J; Gable, Kenneth; Dunn, Teresa; Chen, Sitong; Danzi, Matt C; Synofzik, Matthis; Bönnemann, Carsten G; Nazli Basak, A; Hornemann, Thorsten; Zuchner, Stephan.

J Neurol Neurosurg Psychiatry ; 95(3): 201-205, 2024 Feb 14.

Artículo en Inglés | MEDLINE | ID: mdl-38041684

10.

Recurrent de novo SPTLC2 variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis.

Syeda, Safoora B; Lone, Museer A; Mohassel, Payam; Donkervoort, Sandra; Munot, Pinki; França, Marcondes C; Galarza-Brito, Juan Eli; Eckenweiler, Matthias; Asamoah, Alexander; Gable, Kenneth; Majumdar, Anirban; Schumann, Anke; Gupta, Sita D; Lakhotia, Arpita; Shieh, Perry B; Foley, A Reghan; Jackson, Kelly E; Chao, Katherine R; Winder, Thomas L; Catapano, Francesco; Feng, Lucy; Kirschner, Janbernd; Muntoni, Francesco; Dunn, Teresa M; Hornemann, Thorsten; Bönnemann, Carsten G.

J Neurol Neurosurg Psychiatry ; 95(2): 103-113, 2024 Jan 11.

Artículo en Inglés | MEDLINE | ID: mdl-38041679

11.

Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores.

Donkervoort, Sandra; Kutzner, Carl E; Hu, Ying; Lornage, Xavière; Rendu, John; Stojkovic, Tanya; Baets, Jonathan; Neuhaus, Sarah B; Tanboon, Jantima; Maroofian, Reza; Bolduc, Véronique; Mroczek, Magdalena; Conijn, Stefan; Kuntz, Nancy L; Töpf, Ana; Monges, Soledad; Lubieniecki, Fabiana; McCarty, Riley M; Chao, Katherine R; Governali, Serena; Böhm, Johann; Boonyapisit, Kanokwan; Malfatti, Edoardo; Sangruchi, Tumtip; Horkayne-Szakaly, Iren; Hedberg-Oldfors, Carola; Efthymiou, Stephanie; Noguchi, Satoru; Djeddi, Sarah; Iida, Aritoshi; di Rosa, Gabriella; Fiorillo, Chiara; Salpietro, Vincenzo; Darin, Niklas; Fauré, Julien; Houlden, Henry; Oldfors, Anders; Nishino, Ichizo; de Ridder, Willem; Straub, Volker; Pokrzywa, Wojciech; Laporte, Jocelyn; Foley, A Reghan; Romero, Norma B; Ottenheijm, Coen; Hoppe, Thorsten; Bönnemann, Carsten G.

Am J Hum Genet ; 107(6): 1078-1095, 2020 12 03.

Artículo en Inglés | MEDLINE | ID: mdl-33217308

12.

A long-read RNA-seq approach to identify novel transcripts of very large genes.

Uapinyoying, Prech; Goecks, Jeremy; Knoblach, Susan M; Panchapakesan, Karuna; Bonnemann, Carsten G; Partridge, Terence A; Jaiswal, Jyoti K; Hoffman, Eric P.

Genome Res ; 30(6): 885-897, 2020 06.

Artículo en Inglés | MEDLINE | ID: mdl-32660935

13.

Variants in DTNA cause a mild, dominantly inherited muscular dystrophy.

Nascimento, Andres; Bruels, Christine C; Donkervoort, Sandra; Foley, A Reghan; Codina, Anna; Milisenda, Jose C; Estrella, Elicia A; Li, Chengcheng; Pijuan, Jordi; Draper, Isabelle; Hu, Ying; Stafki, Seth A; Pais, Lynn S; Ganesh, Vijay S; O'Donnell-Luria, Anne; Syeda, Safoora B; Carrera-García, Laura; Expósito-Escudero, Jessica; Yubero, Delia; Martorell, Loreto; Pinal-Fernandez, Iago; Lidov, Hart G W; Mammen, Andrew L; Grau-Junyent, Josep M; Ortez, Carlos; Palau, Francesc; Ghosh, Partha S; Darras, Basil T; Jou, Cristina; Kunkel, Louis M; Hoenicka, Janet; Bönnemann, Carsten G; Kang, Peter B; Natera-de Benito, Daniel.

Acta Neuropathol ; 145(4): 479-496, 2023 04.

Artículo en Inglés | MEDLINE | ID: mdl-36799992

14.

Clinical and molecular heterogeneity of syndromic hypothalamic hamartoma.

Bönnemann, Carsten G; Krishnamoorthy, Kalpathy S; Johnston, Jennifer J; Lee, Mary M; Fowler, Darren J; Biesecker, Leslie G; Holmes, Lewis B.

Am J Med Genet A ; 191(9): 2337-2343, 2023 09.

Artículo en Inglés | MEDLINE | ID: mdl-37435845

15.

Gene-based therapeutics for rare genetic neurodevelopmental psychiatric disorders.

Davidson, Beverly L; Gao, Guangping; Berry-Kravis, Elizabeth; Bradbury, Allison M; Bönnemann, Carsten; Buxbaum, Joseph D; Corcoran, Gavin R; Gray, Steven J; Gray-Edwards, Heather; Kleiman, Robin J; Shaywitz, Adam J; Wang, Dan; Zoghbi, Huda Y; Flotte, Terence R; Tauscher-Wisniewski, Sitra; Tifft, Cynthia J; Sahin, Mustafa.

Mol Ther ; 30(7): 2416-2428, 2022 07 06.

Artículo en Inglés | MEDLINE | ID: mdl-35585789

16.

FXR1-related congenital myopathy: expansion of the clinical and genetic spectrum.

Mroczek, Magdalena; Longman, Cheryl; Farrugia, Maria Elena; Kapetanovic Garcia, Solange; Ardicli, Didem; Topaloglu, Haluk; Hernández-Laín, Aurelio; Orhan, Diclehan; Alikasifoglu, Mehmet; Duff, Jennifer; Specht, Sabine; Nowak, Kristen; Ravenscroft, Gianina; Chao, Katherine; Valivullah, Zaheer; Donkervoort, Sandra; Saade, Dimah; Bönnemann, Carsten; Straub, Volker; Yoon, Grace.

J Med Genet ; 59(11): 1069-1074, 2022 11.

Artículo en Inglés | MEDLINE | ID: mdl-35393337

17.

Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content.

Woldegebriel, Rosa; Kvist, Jouni; Andersson, Noora; Õunap, Katrin; Reinson, Karit; Wojcik, Monica H; Bijlsma, Emilia K; Hoffer, Mariëtte J V; Ryan, Monique M; Stark, Zornitza; Walsh, Maie; Cuppen, Inge; van den Boogaard, Marie-Jose H; Bharucha-Goebel, Diana; Donkervoort, Sandra; Winchester, Sara; Zori, Roberto; Bönnemann, Carsten G; Maroofian, Reza; O'Connor, Emer; Houlden, Henry; Zhao, Fang; Carpén, Olli; White, Matthew; Sreedharan, Jemeen; Stewart, Murray; Ylikallio, Emil; Tyynismaa, Henna.

Hum Mol Genet ; 29(9): 1426-1439, 2020 06 03.

Artículo en Inglés | MEDLINE | ID: mdl-32202298

18.

The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment.

Fiorillo, Chiara; Capodivento, Giovanna; Geroldi, Alessandro; Tozza, Stefano; Moroni, Isabella; Mohassel, Payam; Cataldi, Matteo; Campana, Chiara; Morando, Simone; Panicucci, Chiara; Pedemonte, Marina; Brolatti, Noemi; Siliquini, Sabrina; Traverso, Monica; Baratto, Serena; Debellis, Doriana; Magri, Stefania; Prada, Valeria; Bellone, Emilia; Salpietro, Vincenzo; Donkervoort, Sandra; Gable, Kenneth; Gupta, Sita D; Dunn, Teresa M; Bönnemann, Carsten G; Taroni, Franco; Bruno, Claudio; Schenone, Angelo; Mandich, Paola; Nobbio, Lucilla; Nolano, Maria.

Neuropathol Appl Neurobiol ; 48(7): e12842, 2022 12.

Artículo en Inglés | MEDLINE | ID: mdl-35904184

19.

A recurrent homozygous missense DPM3 variant leads to muscle and brain disease.

Nagy, Sara; Lau, Tracy; Alavi, Shahryar; Karimiani, Ehsan Ghayoor; Vallian, Jalal; Ng, Bobby G; Noroozi Asl, Samaneh; Akhondian, Javad; Bahreini, Amir; Yaghini, Omid; Uapinyoying, Prech; Bonnemann, Carsten; Freeze, Hudson H; Dissanayake, Vajira H W; Sirisena, Nirmala D; Schmidts, Miriam; Houlden, Henry; Moreno-De-Luca, Andres; Maroofian, Reza.

Clin Genet ; 102(6): 530-536, 2022 12.

Artículo en Inglés | MEDLINE | ID: mdl-35932216

20.

X-linked myotubular myopathy is associated with epigenetic alterations and is ameliorated by HDAC inhibition.

Volpatti, Jonathan R; Ghahramani-Seno, Mehdi M; Mansat, Mélanie; Sabha, Nesrin; Sarikaya, Ege; Goodman, Sarah J; Chater-Diehl, Eric; Celik, Alper; Pannia, Emanuela; Froment, Carine; Combes-Soia, Lucie; Maani, Nika; Yuki, Kyoko E; Chicanne, Gaëtan; Uusküla-Reimand, Liis; Monis, Simon; Alvi, Sana Akhtar; Genetti, Casie A; Payrastre, Bernard; Beggs, Alan H; Bonnemann, Carsten G; Muntoni, Francesco; Wilson, Michael D; Weksberg, Rosanna; Viaud, Julien; Dowling, James J.

Acta Neuropathol ; 144(3): 537-563, 2022 09.

Artículo en Inglés | MEDLINE | ID: mdl-35844027

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