Cortese, Andrea; Dohrn, Maike F.; Curro, Riccardo; Negri, Sara; Lassuthova, Petra; Pisciotta, Chiara; Tozza, Stefano; Al-Ajmi, Abdullah; Feng, Changyong; Tomaselli, Pedro J.; Fernandez-Eulate, Gorka; Haddad, Saif; Laura, Matilde; Rossor, Alexander M.; Vegezzi, Elisa; Facchini, Stefano; Sleigh, James N.; Rebelo, Adriana; Beijer, Danique; Raposo, Jacquelyn; Saporta, Mario; Lauerova, Barbora; Pernice, Helena F.; Achenbach, Pascal; Schone, Ulrike; Alon, Tayir; Deschauer, Marcus; Cordts, Isabell; Obermaier, Carolin D.; Winter, Natalie; Creigh, Peter D.; Sowden, Janet E.; Rehbein, Tyler; Magri, Stefania; Bertini, Alessandro; Saveri, Paola; Ripellino, Paolo; Huang, Jingyu; Nadaj-Pakleza, Aleksandra; Ross, Alison; Holt, James K. L.; Brennan, Kathryn M.; Sukenik-Halevy, Rivka; Bizaoui, Varoona; Parman, Yesim; Battaloglu, Esra; Cakar, Arman; Alrohaif, Hadil; Hammans, Simon; Kumar, Kishore R.; Kennerson, Marina L.; Kayserili, Hulya; Amado, Defne A.; Hahn, Katrin; Valentino, Paola; Cavalcanti, Francesca; Gaetano, Carlo; Taroni, Franco; Braathen, Geir J.; Houlden, Henry; Stojkovic, Tanya; Peric, Stojan; Bolino, Alessandra; Previtali, Stefano C.; Lee, Yi-Chung; Basak, Ayse N.; Hamed, Sherifa A.; Rojas-Garcia, Ricardo; Claeys, Kristl G.; Marques, Wilson; Sevilla, Teresa; Schlotter-Weigel, Beate; Manganelli, Fiore; Zhang, Ruxu; Herrmann, David N.; Scherer, Steven S.; Seeman, Pavel; Pareyson, Davide; Reilly, Mary M.; Shy, Michael E.; Zuchner, Stephan

Targeted Long-Read Sequencing as a Single Assay Improves the Diagnosis of Spastic-Ataxia Disorders

ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY

IF3.9

2025-02-251

A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry (vol 15, 6327, 2024)

NATURE COMMUNICATIONS

IF15.7

2024-10-170

OAAI

A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry

NATURE COMMUNICATIONS

IF15.7

2024-07-272

OAAI

Cortese, Andrea; Beecroft, Sarah J.; Facchini, Stefano; Curro, Riccardo; Cabrera-Serrano, Macarena; Stevanovski, Igor; Chintalaphani, Sanjog R.; Gamaarachchi, Hasindu; Weisburd, Ben; Folland, Chiara; Monahan, Gavin; Scriba, Carolin K.; Dofash, Lein; Johari, Mridul; Grosz, Bianca R.; Ellis, Melina; Fearnley, Liam G.; Tankard, Rick; Read, Justin; Merve, Ashirwad; Dominik, Natalia; Vegezzi, Elisa; Schnekenberg, Ricardo P.; Fernandez-Eulate, Gorka; Masingue, Marion; Giovannini, Diane; Delatycki, Martin B.; Storey, Elsdon; Gardner, Mac; Amor, David J.; Nicholson, Garth; Vucic, Steve; Henderson, Robert D.; Robertson, Thomas; Dyke, Jason; Fabian, Vicki; Mastaglia, Frank; Davis, Mark R.; Kennerson, Marina; Quinlivan, Ros; Hammans, Simon; Tucci, Arianna; Bahlo, Melanie; McLean, Catriona A.; Laing, Nigel G.; Stojkovic, Tanya; Houlden, Henry; Hanna, Michael G.; Deveson, Ira W.; Lockhart, Paul J.; Lamont, Phillipa J.; Fahey, Michael C.; Bugiardini, Enrico; Ravenscroft, Gianina; Oflazer, Piraye; Basak, Nazli A.; Kayserili, Hulya; Yesil, Gozde; Malfatti, Edoardo; Lilliker, James B.; Wicklund, Matthew; Pitceathly, Robert D. S.; Brady, Stefen; Brais, Bernard; Pellerin, David; Zuchner, Stephan; Danzi, Matt C.; Grandis, Marina; Comi, Giacomo P.; Corti, Stefania P.; Abati, Elena; Toscano, Antonio; Manini, Arianna; Ghia, Arianna; Tassorelli, Cristina; Quartesan, Ilaria; Simone, Roberto; Rossor, Alexander M.; Reilly, Mary M.; Carroll, Liam; Straub, Volker; Udd, Bjarne; Chen, Zhiyong; Bonne, Gisele

Genome sequencing reanalysis increases the diagnostic yield in dystonia

PARKINSONISM & RELATED DISORDERS

IF3.4

2024-07-010

OAAI

Fellner, Avi; Wali, Gurusidheshwar M.; Mahant, Neil; Grosz, Bianca R.; Ellis, Melina; Narayanan, Ramesh K.; Ng, Karl; Davis, Ryan L.; Tchan, Michel C.; Kotschet, Katya; Yeow, Dennis; Rudaks, Laura I.; Siow, Sue-Faye; Wali, Gautam; Yiannikas, Con; Hobbs, Matthew; Copty, Joseph; Geaghan, Michael; Darveniza, Paul; Liang, Christina; Williams, Laura J.; Chang, Florence C. F.; Morales-Briceno, Hugo; Tisch, Stephen; Hayes, Michael; Whyte, Scott; Kummerfeld, Sarah; Kennerson, Marina L.; Cowley, Mark J.; Fung, Victor S. C.; Sue, Carolyn M.; Kumar, Kishore R.

C. elegans model of riboflavin transporter deficiency (RTD) disorder reveals deficits in synaptic transmission and movement

GENES & DISEASES

IF9.4

2024-07-010

OAAI

A recurrent missense variant in ITPR3 causes demyelinating Charcot-Marie-Tooth with variable severity

ITPR3中的复发性错觉变体导致严重程度不同的charcot-marie-tooth脱髓鞘

BRAIN

IF11.7

2024-06-280

PRE

Beijer, Danique; Dohrn, Maike F.; Rebelo, Adriana; Danzi, Matt C.; Grosz, Bianca Rose; Ellis, Melina; Kumar, Kishore R.; Vucic, Steve; Vais, Horia; Weissenrieder, Jillian S.; Lunko, Olesia; Paudel, Usha; Simpson, Leah C.; Camarena, Vladimir; Raposo, Jacquelyn; Saporta, Mario; Arcia, Yeisha; Xu, Isaac; Feely, Shawna; Record, Christopher J.; Blake, Julian; Reilly, Mary M.; Scherer, Steven S.; Kennerson, Marina; Lee, Yi-Chung; Foskett, J. Kevin; Shy, Michael E.; Inherited Neuropathy Consortium, Stephan; Zuchner, Stephan

A deep intronic variant in MME causes autosomal recessive Charcot-Marie-Tooth neuropathy through aberrant splicing

MME中的深层内含子变体通过异常剪接导致常染色体隐性charcot-marie-tooth神经病

JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

IF3.2

2024-06-110

OAAI

Advances and challenges in modeling inherited peripheral neuropathies using iPSCs

使用iPSCs对遗传性周围神经病进行建模的进展和挑战

EXPERIMENTAL AND MOLECULAR MEDICINE

IF12.9

2024-06-031

OAAI