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Article

Mutations in CLCN6 as a novel genetic cause of neuronal ceroid lipofuscinosis in patients and a murine model.
He, H., Cao, X., He, F., Zhang, W., Wang, X., Peng, P., Xie, C., Yin, F., Li, D., Li, J., Wang, M., Klüssendorf, M., Jentsch, T.J., Stauber, T. and Peng, J.
Annals of Neurology 96 (3): 608-624. September 2024

Grey matter atrophy and its relationship with white matter lesions in patients with myelin oligodendrocyte glycoprotein antibody-associated disease, aquaporin-4 antibody-positive neuromyelitis optica spectrum disorder, and multiple sclerosis.
Cortese, R., Battaglini, M., Prados, F., Gentile, G., Luchetti, L., Bianchi, A., Haider, L., Jacob, A., Palace, J., Messina, S., Paul, F., Marignier, R., Durand-Dubief, F., de Medeiros Rimkus, C., Apostolos Pereira, S.L., Sato, D.K., Filippi, M., Rocca, M.A., Cacciaguerra, L., Rovira, À., Sastre-Garriga, J., Arrambide, G., Liu, Y., Duan, Y., Gasperini, C., Tortorella, C., Ruggieri, S., Amato, M.P., Ulivelli, M., Groppa, S., Grothe, M., Llufriu, S., Sepulveda, M., Lukas, C., Bellenberg, B., Schneider, R., Sowa, P., Celius, E.G., Pröbstel, A.K., Granziera, C., Yaldizli, Ö., Müller, J., Stankoff, B., Bodini, B., Barkhof, F., Ciccarelli, O. and De Stefano, N.
Annals of Neurology 92 (2): 276-288. 23 May 2024

Time to disability milestones and annualized relapse rates in NMOSD and MOGAD.
Duchow, A., Bellmann-Strobl, J., Friede, T., Aktas, O., Angstwurm, K., Ayzenberg, I., Berthele, A., Dawin, E., Engels, D., Fischer, K., Flaskamp, M., Giglhuber, K., Grothe, M., Havla, J., Hümmert, M.W., Jarius, S., Kaste, M., Kern, P., Kleiter, I., Klotz, L., Korporal-Kuhnke, M., Kraemer, M., Krumbholz, M., Kümpfel, T., Lohmann, L., Ringelstein, M., Rommer, P., Schindler, P., Schubert, C., Schwake, C., Senel, M., Bergh, F.T., Tkachenko, D., Tumami, H., Trebst, C., Vardakas, I., Walter, A., Warnke, C., Weber, M.S., Wickel, J., Wildemann, B., Winkelmann, A., Paul, F., Stellmann, J.P. and Häußler, V.
Annals of Neurology 95 (4): 720-732. April 2024

Do early relapses predict the risk of long-term relapsing disease in an adult and paediatric cohort with MOGAD?
Chen, B., Gomez-Figueroa, E., Redenbaugh, V., Francis, A., Satukijchai, C., Wu, Y., Messina, S., Sa, M., Woodhall, M., Paul, F., Robertson, N.P., Lim, M., Wassmer, E., Kneen, R., Huda, S., Blain, C., Halfpenny, C., Hemingway, C., O'Sullivan, E., Hobart, J., Fisniku, L.K., Martin, R.J., Dobson, R., Cooper, S.A., Williams, V., Waters, P., Chen, J.J., Pittock, S.J., Ramdas, S., Leite, M.I., Flanagan, E.P., Geraldes, R. and Palace, J.
Annals of Neurology 94 (3): 508-517. September 2023

Ravulizumab in aquaporin-4-positive neuromyelitis optica spectrum disorder.
Pittock, S.J., Barnett, M., Bennett, J.L., Berthele, A., de Seze, J., Levy, M., Nakashima, I., Oreja-Guevara, C., Palace, J., Paul, F., Pozzilli, C., Yountz, M., Allen, K., Mashhoon, Y. and Kim, H.J.
Annals of Neurology 93 (6): 1053-1068. June 2023

Longitudinal retinal changes in MOGAD.
Oertel, F.C., Sotirchos, E.S., Zimmermann, H.G., Motamedi, S., Specovius, S., Asseyer, E.S., Chien, C., Cook, L., Vasileiou, E., Filippatou, A., Calabresi, P.A., Saidha, S., Pandit, L., D'Cunha, A., Outteryck, O., Zéphir, H., Pittock, S., Flanagan, E.P., Bhatti, M.T., Rommer, P.S., Bsteh, G., Zrzavy, T., Kuempfel, T., Aktas, O., Ringelstein, M., Albrecht, P., Ayzenberg, I., Pakeerathan, T., Knier, B., Aly, L., Asgari, N., Soelberg, K., Marignier, R., Tilikete, C.F., Calvo, A.C., Villoslada, P., Sanchez-Dalmau, B., Martinez-Lapiscina, E.H., Llufriu, S., Green, A.J., Yeaman, M.R., Smith, T.J., Brandt, A.U., Chen, J., Paul, F. and Havla, J.
Annals of Neurology 92 (3): 476-485. September 2022

Subcortical volumes as early predictors of fatigue in multiple sclerosis.
Fleischer, V., Ciolac, D., Gonzalez-Escamilla, G., Grothe, M., Strauss, S., Molina Galindo, L.S., Radetz, A., Salmen, A., Lukas, C., Klotz, L., Meuth, S.G., Bayas, A., Paul, F., Hartung, H.P., Heesen, C., Stangel, M., Wildemann, B., Bergh, F.T., Tackenberg, B., Kümpfel, T., Zettl, U.K., Knop, M., Tumani, H., Wiendl, H., Gold, R., Bittner, S., Zipp, F., Groppa, S. and Muthuraman, M.
Annals of Neurology 91 (2): 192-202. February 2022

Serum glial fibrillary acidic protein: a neuromyelitis optica spectrum disorder biomarker.
Aktas, O., Smith, M.A., Rees, W.A., Bennett, J.L., She, D., Katz, E. and Cree, B.A.C.
Annals of Neurology 89 (5): 895-910. May 2021

Assessing dysferlinopathy patients over three years with a new motor scale.
Jacobs, M., James, M.K., Lowes, L.P., Alfano, L.N., Eagle, M., Lofra, R.M., Moore, U., Feng, J., Rufibach, L.E., Rose, K., Duong, T., Bello, L., Pedrosa-Hernández, I., Holsten, S., Sakamoto, C., Canal, A., Práxedes, N.S.A., Thiele, S., Siener, C., Vandevelde, B., DeWolf, B., Maron, E., Guglieri, M., Hogrel, J.Y., Blamire, A.M., Carlier, P.G., Spuler, S., Day, J.W., Jones, K.J., Bharucha-Goebel, D.X., Salort-Campana, E., Pestronk, A., Walter, M.C., Paradas, C., Stojkovic, T., Mori-Yoshimura, M., Bravver, E., Díaz-Manera, J., Pegoraro, E., Mendell, J.R., Mayhew, A.G. and Straub, V.
Annals of Neurology 89 (5): 967-978. May 2021

Human cerebrospinal fluid monoclonal LGI1 autoantibodies increase neuronal excitability.
Kornau, H.C., Kreye, J., Stumpf, A., Fukata, Y., Parthier, D., Sammons, R.P., Imbrosci, B., Kurpjuweit, S., Kowski, A.B., Fukata, M., Prüss, H. and Schmitz, D.
Annals of Neurology 87 (3): 405-418. March 2020

Human gestational N-methyl-d-aspartate receptor autoantibodies impair neonatal murine brain function.
Jurek, B., Chayka, M., Kreye, J., Lang, K., Kraus, L., Fidzinski, P., Kornau, H.C., Dao, L.M., Wenke, N.K., Long, M., Rivalan, M., Winter, Y., Leubner, J., Herken, J., Mayer, S., Mueller, S., Boehm-Sturm, P., Dirnagl, U., Schmitz, D., Kölch, M. and Prüss, H.
Annals of Neurology 86 (5): 656-670. November 2019

SSBP1 mutations in dominant optic atrophy with variable retinal degeneration.
Jurkute, N., Leu, C., Pogoda, H.M., Arno, G., Robson, A.G., Nürnberg, G., Altmüller, J., Thiele, H., Motameny, S., Toliat, M.R., Powell, K., Höhne, W., Michaelides, M., Webster, A.R., Moore, A.T., Hammerschmidt, M., Nürnberg, P., Yu-Wai-Man, P. and Votruba, M.
Annals of Neurology 86 (3): 368-383. September 2019

Optimal intereye difference thresholds by optical coherence tomography in multiple sclerosis: an international study.
Nolan, R.C., Liu, M., Akhand, O., Calabresi, P.A., Paul, F., Petzold, A., Balk, L., Brandt, A.U., Martínez-Lapiscina, E.H., Saidha, S., Villoslada, P., Abu Al-Hassan, A., Behbehani, R., Frohman, E.M., Frohman, T., Havla, J., Hemmer, B., Jiang, H., Knier, B., Korn, T., Leocani, L., Papadopoulou, A., Pisa, M., Zimmermann, H., Galetta, S.L. and Balcer, L.J.
Annals of Neurology 85 (5): 618-629. May 2019

Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.
Gardella, E., Becker, F., Møller, R.S., Schubert, J., Lemke, J.R., Larsen, L.H.G., Eiberg, H., Nothnagel, M., Thiele, H., Altmüller, J., Syrbe, S., Merkenschlager, A., Bast, T., Steinhoff, B., Nürnberg, P., Mang, Y., Bakke Møller, L., Gellert, P., Heron, S.E., Dibbens, L.M., Weckhuysen, S., Dahl, H.A., Biskup, S., Tommerup, N., Hjalgrim, H., Lerche, H., Beniczky, S. and Weber, Y.G.
Annals of Neurology 79 (3): 428-436. March 2016

Neuromyelitis optica: evaluation of 871 attacks and 1153 treatment courses.
Kleiter, I., Gahlen, A., Borisow, N., Fischer, K., Wernecke, K.D., Wegner, B., Hellwig, K., Pache, F., Ruprecht, K., Havla, J., Krumbholz, M., Kümpfel, T., Aktas, O., Hartung, H.P., Ringelstein, M., Geis, C., Kleinschnitz, C., Berthele, A., Hemmer, B., Angstwurm, K., Stellmann, J.P., Schuster, S., Stangel, M., Lauda, F., Tumani, H., Mayer, C., Zeltner, L., Ziemann, U., Linker, R., Schwab, M., Marziniak, M., Bergh, F.T., Hofstadt-van Oy, U., Neuhaus, O., Winkelmann, A., Marouf, W., Faiss, J., Wildemann, B., Paul, F., Jarius, S. and Trebst, C.
Annals of Neurology 79 (2): 206-216. February 2016

Rare variants in GABA(A) receptor genes in Rolandic epilepsy and related syndromes.
Reinthaler, E.M., Dejanovic, B., Lal, D., Semtner, M., Merkler, Y., Reinhold, A., Pittrich, D.A., Hotzy, C., Feucht, M., Steinboeck, H., Gruber-Sedlmayr, U., Ronen, G., Neophytou, B., Geldner, J., Haberlandt, E., Muhle, H., Ikram, M.A., van Duijn, CM., Uitterlinden, A.G., Hofman, A., Altmüller, J., Kawalia, A., Toliat, M.R., Nuernberg, P., Lerche, H., Nothnagel, M., Thiele, H., Sander, T., Meier, J.C., Schwarz, G., Neubauer, B.A. and Zimprich, F.
Annals of Neurology 77 (6): 972-986. June 2015

DEPDC5 mutations in genetic focal epilepsies of childhood.
Lal, D., Reinthaler, E.M., Schubert, J., Muhle, H., Riesch, E., Kluger, G., Jabbari, K., Kawalia, A., Bäumel, C., Holthausen, H., Hahn, A., Feucht, M., Neophytou, B., Haberlandt, E., Becker, F., Altmüller, J., Thiele, H., Lemke, J.R., Lerche, H., Nürnberg, P., Sander, T., Weber, Y., Zimprich, F. and Neubauer, B.A.
Annals of Neurology 75 (5): 788-792. May 2014

Functional and structural brain changes in anti-N-methyl-D-aspartate receptor encephalitis.
Finke, C., Kopp, U.A., Scheel, M., Pech, L.M., Soemmer, C., Schlichting, J., Leypoldt, F., Brandt, A.U., Wuerfel, J., Probst, C., Ploner, C.J., Prüss, H. and Paul, F.
Annals of Neurology 74 (2): 284-296. August 2013

No cerebrocervical venous congestion in patients with multiple sclerosis.
Doepp, F., Paul, F., Valdueza, J.M., Schmierer, K. and Schreiber, S.J.
Annals of Neurology 68 (2): 173-183. August 2010

Contractures and hypertrophic cardiomyopathy in a novel FHL1 mutation.
Knoblauch, H., Geier, C., Adams, S., Budde, B., Rudolph, A., Zacharias, U., Schulz-Menger, J., Spuler, A., Yaou, R.B., Nuernberg, P., Voit, T., Bonne, G. and Spuler, S.
Annals of Neurology 67 (1): 136-140. January 2010

Lower motor neuron loss in multiple sclerosis and experimental autoimmune encephalomyelitis.
Vogt, J., Paul, F.E., Aktas, O., Mueller-Wielsch, K., Doerr, J., Doerr, S., Bharathi, B.S., Glumm, R., Schmitz, C., Steinbusch, H., Raine, C.S., Tsokos, M., Nitsch, R. and Zipp, F.
Annals of Neurology 66 (3): 310-322. September 2009

Dysferlin-deficient muscular dystrophy features amyloidosis.
Spuler, S., Carl, M., Zabojszcza, J., Straub, V., Bushby, K., Moore, S.A., Bähring, S., Wenzel, K., Vinkemeier, U. and Rocken, C.
Annals of Neurology 63 (3): 323-328. March 2008

Low stability of huntington muscle mitochondria against Ca2+ in R6/2 mice.
Gizatullina, Z.Z., Lindenberg, K.S., Harjes, P., Chen, Y., Kosinski, C.M., Landwehrmeyer, B.G., Ludolph, A.C., Striggow, F., Zierz, S. and Gellerich, F.N.
Annals of Neurology 59 (2): 407-411. February 2006

Genetic dissection of photosensitivity and its relation to idiopathic generalized epilepsy.
Tauer, U., Lorenz, S., Lenzen, K.P., Heils, A., Muhle, H., Gresch, M., Neubauer, B.A., Waltz, S., Rudolf, G., Mattheisen, M., Strauch, K., Schmitz, B., Stephani, U. and Sander, T.
Annals of Neurology 57 (6): 866-873. 1 January 2005

Imaging-guided convection-enhanced delivery and gene therapy of glioblastoma.
Voges, J., Reszka, R., Gossmann, A., Dittmar, C., Richter, R., Garlip, G., Kracht, L., Coenen, H.H., Sturm, V., Wienhard, K., Heiss, W.D. and Jacobs, A.H.
Annals of Neurology 54 (4): 479-487. October 2003

Cardiac energetics correlates to myocardial hypertrophy in Friedreich's ataxia.
Bunse, M., Bit-Avragim, N., Riefflin, A., Perrot, A., Schmidt, O., Kreuz, F.R., Dietz, R., Jung, W.I. and Osterziel, K.J.
Annals of Neurology 53 : 121-123. 1 January 2003

Neuroplasticity in old age: sustained fivefold induction of hippocampal neurogenesis by long-term environmental enrichment.
Kempermann, G., Gast, D. and Gage, F.H.
Annals of Neurology 52 (2): 135-143. August 2002

Amyloid myopathy: an underdiagnosed entity.
Spuler, S., Emslie-Smith, A. and Engel, A.G.
Annals of Neurology 43 (6): 719-728. June 1998

The phenotypic spectrum related to the human epilepsy susceptibility gene ejm1.
Sander, T., Hildmann, T., Janz, D., Wienker, T.F., Neitzel, H., Bianchi, A., Bauer, G., Sailer, U., Berek, K., Schmitz, B. and Beckmannagetta, G.
Annals of Neurology 38 (2): 210-217. 1 January 1995

Review

Identifying progression in multiple sclerosis: new perspectives.
Filippi, M., Preziosa, P., Langdon, D., Lassmann, H., Paul, F., Rovira, À., Schoonheim, M.M., Solari, A., Stankoff, B. and Rocca, M.A.
Annals of Neurology 88 (3): 438-452. September 2020

Letter

Reply to "Interpretation of longitudinal changes of the inner nuclear layer in MS".
Cordano, C., Yiu, H.H., Abdelhak, A., Beaudry-Richard, A., Oertel, F.C. and Green, A.J.
Annals of Neurology 92 (1): 156. July 2022

Retinal INL thickness in multiple sclerosis: a mere marker of neurodegeneration?
Cordano, C., Yiu, H.H, Oertel, F.C., Gelfand, J.M., Hauser, S.L., Cree, B.A.C. and Green, Ari J.
Annals of Neurology 89 (1): 192-193. January 2021

SMI-31 immunoreactivity in inclusion body myositis.
Spuler, S. and Engel, A.G.
Annals of Neurology 42 (5): 815. November 1997