Publications

Synaptic Injury in the IPL of the Retina Is a Predictor of Progression in Multiple Sclerosis (P6-6.003).

Christian Cordano, Sebastian Werneburg, Ahmed Abdelhak, Daniel Bennett, Alexandra Beaudry-richard, Greg Duncan, Frederike Oertel, John Boscardin, Hao Yiu, Nora Jabassini, Lauren Merritt, Sonia Nocera, Jung Sin, Shivany Condor Montes, Kirtana Ananth, Antje Bischof, Bardia Nourbakhsh, Stephen Hauser, Bruce Cree, Ben Emery, Jonah Chan, Dorothy Schafer, Ari Green

2024
Acute and Chronic Demyelination Independent of Inflammation Promotes Tissue- and Blood-markers of Neuroaxonal Pathology (S17.010).

Ahmed Abdelhak, Christian Cordano, Katie Emberley, Greg Duncan, Sonia Nocera, Kirtana Ananth, Nora Jabassini, Kiarra Ning, Henriette Reinsberg, Frederike Oertel, Alexandra Beaudry-Richard, Jens Kuhle, Trent Watkins, Jonah Chan, Ben Emery, Ari Green

2024
De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders.

Chen Y, Dawes R, Kim HC, Stenton SL, Walker S, Ljungdahl A, Lord J, Ganesh VS, Ma J, Martin-Geary AC, Lemire G, D'Souza EN, Dong S, Ellingford JM, Adams DR, Allan K, Bakshi M, Baldwin EE, Berger SI, Bernstein JA, Brown NJ, Burrage LC, Chapman K, Compton AG, Cunningham CA, D'Souza P, Délot EC, Dias KR, Elias ER, Evans CA, Ewans L, Ezell K, Fraser JL, Gallacher L, Genetti CA, Grant CL, Haack T, Kuechler A, Lalani SR, Leitão E, Fevre AL, Leventer RJ, Liebelt JE, Lockhart PJ, Ma AS, Macnamara EF, Maurer TM, Mendez HR, Montgomery SB, Nassogne MC, Neumann S, O'Leary M, Palmer EE, Phillips J, Pitsava G, Pysar R, Rehm HL, Reuter CM, Revencu N, Riess A, Rius R, Rodan L, Roscioli T, Rosenfeld JA, Sachdev R, Simons C, Sisodiya SM, Snell P, Clair L, Stark Z, Tan TY, Tan NB, Temple SE, Thorburn DR, Tifft CJ, Uebergang E, VanNoy GE, Vilain E, Viskochil DH, Wedd L, Wheeler MT, White SM, Wojcik M, Wolfe LA, Wolfenson Z, Xiao C, Zocche D, Rubenstein JL, Markenscoff-Papadimitriou E, Fica SM, Baralle D, Depienne C, MacArthur DG, Howson JM, Sanders SJ, O'Donnell-Luria A, Whiffin N

2024
Quantitative assessment of preanalytic variables on clinical evaluation of PI3/AKT/mTOR signaling activity in diffuse glioma.

Beccari S, Mohamed E, Voong V, Hilz S, Lafontaine M, Shai A, Lim Y, Martinez J, Switzman B, Yu RL, Lupo JM, Chang EF, Hervey-Jumper SL, Berger MS, Costello JF, Phillips JJ

2024
A metabolic perspective to sleep genetics.

Levine DC, Ptácek LJ, Fu YH

2024
Cell-Type Specificity of Mosaic Chromosome 1q Gain Resolved by snRNA-seq in a Case of Epilepsy With Hyaline Protoplasmic Astrocytopathy.

Leng K, Cadwell CR, Devine WP, Tihan T, Qi Z, Singhal NS, Glenn OA, Kamiya S, Wiita AP, Berger AC, Shieh JT, Titus EW, Paredes MF, Upadhyay V

2024
Information flow between motor cortex and striatum reverses during skill learning.

Lemke SM, Celotto M, Maffulli R, Ganguly K, Panzeri S

2024
Hammerstein-Wiener model: A new approach to the estimation of formal neural information

Reza Abbasi-Asl, Rahman Khorsandi, Bijan Vosooghi-Vahdat

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