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Cerebrospinal fluid metabolomics in autistic regression reveals dysregulation of sphingolipids and decreased β-hydroxybutyrate Yan, Jingya; Han, Velda X.; Jones, Hannah F.; Couttas, Timothy A.; Jieu, Beverly; Leweke, F. Markus; Lee, Jennifer; Loi, Catherine; Webster, Richard; Kothur, Kavitha; Menezes, Manoj P.; Antony, Jayne; Kandula, Tejaswi; Cardamone, Michael; Patel, Shrujna; Bandodkar, Sushil; Dale, Russell C. Share Save
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Genome sequencing enables diagnosis and treatment of SLC5A6 neuropathy Riley, Lisa G.; Sabui, Subrata; Said, Hamid M.; Niaz, Aram; Girisha, Katta M.; Radhakrishnan, Periyasamy; Nampoothiri, Sheela; Yesodharan, Dhanya; Kilo, Tatjana; Smith, Janine; Wong, Rachel S. H.; Menezes, Manoj P.; Gupta, Sachin; Cooper, Sandra T.; Balasubramaniam, Shanti Share Save
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Association of Body Mass Index With Disease Progression in Children With Charcot-Marie-Tooth Disease Donlevy, Gabrielle A.; Cornett, Kayla M. D.; Garnett, Sarah P.; Shy, Rosemary; Estilow, Timothy; Yum, Sabrina W.; Anderson, Kimberly; Pareyson, Davide; Moroni, Isabella; Muntoni, Francesco; Reilly, Mary M.; Finkel, Richard S.; Herrmann, David N.; Eichinger, Katy J.; Shy, Michael E.; Burns, Joshua; Menezes, Manoj P. Share Save
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration Vetro, Annalisa; Pelorosso, Cristiana; Balestrini, Simona; Masi, Alessio; Hambleton, Sophie; Argilli, Emanuela; Conti, Valerio; Giubbolini, Simone; Barrick, Rebekah; Bergant, Gaber; Writzl, Karin; Bijlsma, Emilia K.; Brunet, Theresa; Cacheiro, Pilar; Mei, Davide; Devlin, Anita; Hoffer, Mariette J. V.; Machol, Keren; Mannaioni, Guido; Sakamoto, Masamune; Menezes, Manoj P.; Courtin, Thomas; Sherr, Elliott; Parra, Riccardo; Richardson, Ruth; Roscioli, Tony; Scala, Marcello; von Stuelpnagel, Celina; Smedley, Damian; Torella, Annalaura; Tohyama, Jun; Koichihara, Reiko; Hamada, Keisuke; Ogata, Kazuhiro; Suzuki, Takashi; Sugie, Atsushi; van der Smagt, Jasper J.; van Gassen, Koen; Valence, Stephanie; Vittery, Emma; Malone, Stephen; Kato, Mitsuhiro; Matsumoto, Naomichi; Ratto, Gian Michele; Guerrini, Renzo Share Save
CSF neopterin and quinolinic acid are biomarkers of neuroinflammation and neurotoxicity in FIRES and other infection-triggered encephalopathy syndromes Dale, Russell C.; Thomas, Terrence; Patel, Shrujna; Han, Velda X.; Kothur, Kavitha; Troedson, Christopher; Gupta, Sachin; Gill, Deepak; Malone, Stephen; Waak, Michaela; Calvert, Sophie; Subramanian, Gopinath; Andrews, P. Ian; Kandula, Tejaswi; Menezes, Manoj P.; Ardern-Holmes, Simone; Mohammad, Shekeeb; Bandodkar, Sushil; Yan, Jingya Share Save
CSF neopterin, quinolinic acid and kynurenine/tryptophan ratio are biomarkers of active neuroinflammation Yan, Jingya; Kothur, Kavitha; Mohammad, Shekeeb; Chung, Jason; Patel, Shrujna; Jones, Hannah F.; Keating, Brooke A.; Han, Velda X.; Webster, Richard; Ardern-Holmes, Simone; Antony, Jayne; Menezes, Manoj P.; Tantsis, Esther; Gill, Deepak; Gupta, Sachin; Kandula, Tejaswi; Sampaio, Hugo; Farrar, Michelle A.; Troedson, Christopher; Andrews, P. Ian; Pillai, Sekhar C.; Heng, Benjamin; Guillemin, Gilles J.; Guller, Anna; Bandodkar, Sushil; Dale, Russell C. Share Save
Connective tissue presentation in two families expands the phenotypic spectrum of PYROXD1 disorders Evesson, Frances J.; Dziaduch, Gregory; Bryen, Samantha J.; Moore, Francesca; Pittman, Sara; Devanapalli, Beena; Waddell, Leigh B.; Ryan, Monique M.; Menezes, Manoj P.; Weihl, Conrad C.; Tolun, Adviye Ayper; Zaidman, Craig; Young, Helen; Ades, Lesley C.; Cooper, Sandra T. Share Save
Decreased cerebrospinal fluid kynurenic acid in epileptic spasms: A biomarker of response to corticosteroids Yan, Jingya; Kothur, Kavitha; Innes, Emily A.; Han, Velda X.; Jones, Hannah F.; Patel, Shrujna; Tsang, Erica; Webster, Richard; Gupta, Sachin; Troedson, Christopher; Menezes, Manoj P.; Antony, Jayne; Ardern-Holmes, Simone; Tantsis, Esther; Mohammad, Shekeeb; Wienholt, Louise; Pires, Ananda S.; Heng, Benjamin; Guillemin, Gilles J.; Guller, Anna; Gill, Deepak; Bandodkar, Sushil; Dale, Russell C. Share Save
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Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth disease Yiu, Eppie M.; Bray, Paula; Baets, Jonathan; Baker, Steven K.; Barisic, Nina; de Valle, Katy; Estilow, Timothy; Farrar, Michelle A.; Finkel, Richard S.; Haberlova, Jana; Kennedy, Rachel A.; Moroni, Isabella; Nicholson, Garth A.; Ramchandren, Sindhu; Reilly, Mary M.; Rose, Kristy; Shy, Michael E.; Siskind, Carly E.; Yum, Sabrina W.; Menezes, Manoj P.; Ryan, Monique M.; Burns, Joshua Share Save
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants Bournazos, Adam M.; Riley, Lisa G.; Bommireddipalli, Shobhana; Ades, Lesley; Akesson, Lauren S.; Al-Shinnag, Mohammad; Alexander, Stephen, I; Archibald, Alison D.; Balasubramaniam, Shanti; Berman, Yemima; Beshay, Victoria; Boggs, Kirsten; Bojadzieva, Jasmina; Brown, Natasha J.; Bryen, Samantha J.; Buckley, Michael F.; Chong, Belinda; Davis, Mark R.; Dawes, Ruebena; Delatycki, Martin; Donaldson, Liz; Downie, Lilian; Edwards, Caitlin; Edwards, Matthew; Engel, Amanda; Ewans, Lisa J.; Faiz, Fathimath; Fennell, Andrew; Field, Michael; Freckmann, Mary-Louise; Gallacher, Lyndon; Gear, Russell; Goel, Himanshu; Goh, Shuxiang; Goodwin, Linda; Hanna, Bernadette; Harraway, James; Higgins, Megan; Ho, Gladys; Hopper, Bruce K.; Horton, Ari E.; Hunter, Matthew F.; Huq, Aamira J.; Josephi-Taylor, Sarah; Joshi, Himanshu; Kirk, Edwin; Krzesinski, Emma; Kumar, Kishore R.; Lemckert, Frances; Leventer, Richard J.; Lindsey-Temple, Suzanna E.; Lunke, Sebastian; Ma, Alan; Macaskill, Steven; Mallawaarachchi, Amali; Marty, Melanie; Marum, Justine E.; McCarthy, Hugh J.; Menezes, Manoj P.; McLean, Alison; Milnes, Di; Mohammad, Shekeeb; Mowat, David; Niaz, Aram; Palmer, Elizabeth E.; Patel, Chirag; Patel, Shilpan G.; Phelan, Dean; Pinner, Jason R.; Rajagopalan, Sulekha; Regan, Matthew; Rodgers, Jonathan; Rodrigues, Miriam; Roxburgh, Richard H.; Sachdev, Rani; Roscioli, Tony; Samarasekera, Ruvishani; Sandaradura, Sarah A.; Savva, Elena; Schindler, Tim; Shah, Margit; Sinnerbrink, Ingrid B.; Smith, Janine M.; Smith, Richard J.; Springer, Amanda; Stark, Zornitza; Strom, Samuel P.; Sue, Carolyn M.; Tan, Kenneth; Tan, Tiong Y.; Tantsis, Esther; Tchan, Michel C.; Thompson, Bryony A.; Trainer, Alison H.; Van Spaendonck-Zwarts, Karin; Walsh, Rebecca; Warwick, Linda; White, Stephanie; White, Susan M.; Williams, Mark G.; Wilson, Meredith J.; Wong, Wui Kwan; Wright, Dale C.; Yap, Patrick; Yeung, Alison; Young, Helen; Jones, Kristi J.; Bennetts, Bruce; Cooper, Sandra T. Share Save
Association Between Body Mass Index and Disability in Children With Charcot-Marie-Tooth Disease Donlevy, Gabrielle A.; Garnett, Sarah P.; Cornett, Kayla M. D.; McKay, Marnee J.; Baldwin, Jennifer N.; Shy, Rosemary R.; Yum, Sabrina W.; Estilow, Timothy; Moroni, Isabella; Foscan, Maria; Pagliano, Emanuela; Pareyson, Davide; Laura, Matilde; Bhandari, Trupti; Muntoni, Francesco; Reilly, Mary M.; Finkel, Richard S.; Sowden, Janet E.; Eichinger, Katy J.; Herrmann, David N.; Shy, Michael E.; Burns, Joshua; Menezes, Manoj P. Share Save
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Refining clinical trial inclusion criteria to optimize the standardized response mean of the CMTPedS Cornett, Kayla M. D.; Menezes, Manoj P.; Bray, Paula; Shy, Rosemary R.; Moroni, Isabella; Pagliano, Emanuela; Pareyson, Davide; Estilow, Tim; Yum, Sabrina W.; Bhandari, Trupti; Muntoni, Francesco; Laura, Matilde; Reilly, Mary M.; Finkel, Richard S.; Eichinger, Katy J.; Herrmann, David N.; Shy, Michael E.; Burns, Joshua Share Save
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