General Neurology

Viorica Chelban, Matthew P. Wilson, Jodi Warman Chardon, Jana Vandrovcova, M. Natalia Zanetti, Eleni Zamba‐Papanicolaou, Stephanie Efthymiou, Simon Pope, Maria R Conte, Giancarlo Abis, Yo‐Tsen Liu, Eloise Tribollet, Nourelhoda A. Haridy, Juan A Botía, Mina Ryten, Paschalis Nicolaou, Anna Minaidou, Kyproula Christodoulou, Kristin D. Kernohan, Alison Eaton, Matthew Osmond, Yoko Ito, Pierre Bourque, James E.C. Jepson, Oscar Bello, Fion Bremner, Carla Cordivari, Mary M. Reilly, Martha Foiani, Amanda Heslegrave, Henrik Zetterberg, Simon J.R. Heales, Nicholas W. Wood, James E. Rothman, Kym M Boycott, Philippa B. Mills, Peter T. Clayton, Henry Houlden, for the Care4Rare Canada Consortium, the SYNaPS Study Group, Yamna Kriouile, Mohamed El Khorassani, Mhammed Aguennouz, Stanislav Groppa, Blagovesta Marinova Karashova, Lionel Van Maldergem, Wolfgang Nachbauer, Sylvia Boesch, Larissa Arning, Dagmar Timmann, Bru Cormand, Belen Pérez‐Dueñas, Gabriella Di Rosa, Jatinder S. Goraya, Tipu Sultan, Jun Mine, Daniela Avdjieva, Hadil Kathom, Radka Tincheva, Selina Banu, Mercedes Pineda‐Marfa, Pierangelo Veggiotti, Michel D. Ferrari, Arn M J M Maagdenberg, Alberto Verrotti, Giangluigi Marseglia, Salvatore Savasta, Mayte García‐Silva, Alfons Macaya Ruiz, Barbara Garavaglia, Eugenia Borgione, Simona Portaro, Benigno Monteagudo Sanchez, Richard Boles, Savvas Papacostas, Michail Vikelis, James Rothman, Paola Giunti, Henry Houlden, Viorica Chelban, Vincenzo Salpietro, Emer Oconnor, Stephanie Efthymiou, Dimitri Kullmann, Rauan Kaiyrzhanov, Roisin Sullivan, Alaa Matooq Khan, Wai Yan Yau, Isabel Hostettler, Eleni Zamba Papanicolaou, Efthymios Dardiotis, Shazia Maqbool, Shahnaz Ibrahim, Salman Kirmani, Nuzhat Noureen Rana, Osama Atawneh, Shen‐Yang Lim, Farooq Shaikh, George Koutsis, Marianthi Breza, Salvatore Mangano, Carmela Scuderi, Eugenia Borgione, Giovanna Morello, Tanya Stojkovic, Erin Torti, Massimi Zollo, Gali Heimer, Yves A. Dauvilliers, Pasquale Striano, Issam Al‐Khawaja, Fuad Al‐Mutairi, Fowzan S Alkuraya, Hamed Sherifa, Mie Rizig, Njideka U. Okubadejo, Oluwadamilola O. Ojo, Olajumoke O. Oshinaike, Kolawole Wahab, Abiodun H. Bello, Sanni Abubakar, Yahaya Obiabo, Ernest Nwazor, Oluchi Ekenze, Uduak Williams, Alagoma Iyagba, Lolade Taiwo, Morenikeji Komolafe, Olapeju Oguntunde, Sofya Pchelina, Konstantin Senkevich, Nourelhoda Haridy, Chingiz Shashkin, Nazira Zharkynbekova, Kairgali Koneyev, Ganieva Manizha, Maksud Isrofilov, Ulviyya Guliyeva, Kamran Salayev, Samson Khachatryan, Salvatore Rossi, Gabriella Silvestri, Thomas Bourinaris, Georgia Xiromerisiou, Liana Fidani, Cleanthe Spanaki, Arianna Tucci June 15, 2019

ABSTRACT

Objective

To identify disease‐causing variants in autosomal recessive axonal polyneuropathy with optic atrophy and provide targeted replacement therapy.

Methods

We performed genome‐wide sequencing, homozygosity mapping and segregation analysis for novel disease‐causing gene discovery. We used circular dichroism to show secondary structure changes and isothermal titration calorimetry to investigate the impact of variants on ATP‐binding.… Read More...

Gloria Dalla Costa, Vittorio Martinelli, Roberto Furlan, Giancarlo Comi June 15, 2019

In our recently published study we found that at the onset of PML serum NfL were 10‐fold higher than in the pre‐PML condition and in natalizumab‐treated or untreated MS patients. The findings by Loonstra et al., with four additional cases with an increase in serum NfL at PML onset, support our results and further explore the dynamics of these changes.… Read More...

Torbjørn Kråkenes, Ida Herdlevær, Margrethe Raspotnig, Mette Haugen, Manja Schubert, Christian A. Vedeler June 15, 2019

The pathogenesis of Yo‐mediated paraneoplastic cerebellar degeneration (PCD) is unclear. We applied cerebrospinal fluid and serum from PCD patients as well as CDR2 and CDR2L antibodies to neuronal tissue, cancer cell lines, and cells transfected with recombinant CDR2 and CDR2L to elucidate which is the major antigen of Yo antibodies.… Read More...

Hyungjong Park, Jayoung Kim, Jimin Ha, In Gun Hwang, Tae‐Jin Song, Joonsang Yoo, Seong Hwan Ahn, Kyoungsub Kim, Byung Moon Kim, Dong Joon Kim, Young Dae Kim, Hyo Suk Nam, Il Kwon, Hyun‐Jung Choi, Sung‐Il Sohn, Hye Sun Lee, Ji Hoe Heo June 15, 2019

The histological features of thrombus in stroke patients with cancer are not well known. Using immunohistochemical staining of thrombi retrieved during mechanical thrombectomy in stroke patients, thrombus compositions were compared between 16 patients with active cancer, 16 patients with inactive cancer, and 16 patients without any history of cancer.… Read More...

admin June 15, 2019

A fluorescence photomicrograph showing the localization of JBTS17, a protein that organizes microtubules during cell division and which is mutated in Joubert syndrome. The nucleus of the cell is stained blue, the microtubules red and JBTS17 green. Note the localization of JBTS17 along the nuclear envelope and in the cytoplasm along microtubules.… Read More...

Sina Sangari, Henrik Lundell, Steven Kirshblum, Monica A. Perez June 15, 2019

Objective

Spasticity is one of the most common symptoms manifested in humans with spinal cord injury (SCI). The neural mechanisms contributing to its development are not yet understood. Using neurophysiological and imaging techniques, we examined the influence of residual descending motor pathways on spasticity in humans with SCI.… Read More...

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