Pathological Study of a FMR1 Premutation Carrier With Progressive Supranuclear Palsy

by Martin Paucar, Inger Nennesmo, Per Svenningsson
Published 2018-08-01

Paroxysmal Kinesigenic Dyskinesia

by Martin Paucar, Helena Malmgren, Per Svenningsson
Published 2017-12-01

Progressive Ataxia with Elevated Alpha-Fetoprotein: Diagnostic Issues and Review of the Literature

by Martin Paucar, Alexander M.R. Taylor, Marios Hadjivassiliou, Brent L. Fogel, Per Svenningsson
Published 2019-10-01

An unusual cause of fatal rapid-onset ataxia plus syndrome

by Ivan Kmezic, Jan Weinberg, Dan Hauzenberger, Farouk Hashim, Evangelia Kollia, Monika Klimkowska, Inger Nennesmo, Martin Paucar
Published 2017-04-01

7α-hydroxy-3-oxo-4-cholestenoic acid in cerebrospinal fluid reflects the integrity of the blood-brain barrier

by Ahmed Saeed, Federico Floris, Ulla Andersson, Irina Pikuleva, Anita Lövgren-Sandblom, Maria Bjerke, Martin Paucar, Anders Wallin, Per Svenningsson, Ingemar Björkhem
Published 2014-02-01

The cerebellar phenotype of Charcot-Marie-Tooth neuropathy type 4C

by Humberto Skott, Cristina Muntean-Firanescu, Kristin Samuelsson, Luca Verrecchia, Per Svenningsson, Helena Malmgren, Carmen Cananau, Alberto J. Espay, Rayomand Press, Göran Solders, Martin Paucar
Published 2019-07-01

Rare variants in dynein heavy chain genes in two individuals with situs inversus and developmental dyslexia: a case report

by Andrea Bieder, Elisabet Einarsdottir, Hans Matsson, Harriet E. Nilsson, Jesper Eisfeldt, Anca Dragomir, Martin Paucar, Tobias Granberg, Tie-Qiang Li, Anna Lindstrand, Juha Kere, Isabel Tapia-Páez
Published 2020-05-01

De novo mutations in ataxin-2 gene and ALS risk.

by José Miguel Laffita-Mesa, Jorge Michel Rodríguez Pupo, Raciel Moreno Sera, Yaimee Vázquez Mojena, Vivian Kourí, Leonides Laguna-Salvia, Michael Martínez-Godales, José A Valdevila Figueira, Peter O Bauer, Roberto Rodríguez-Labrada, Yanetza González Zaldívar, Martin Paucar, Per Svenningsson, Luís Velázquez Pérez
Published 2013-01-01

A KCNC3 mutation causes a neurodevelopmental, non-progressive SCA13 subtype associated with dominant negative effects and aberrant EGFR trafficking.

by Swati Khare, Jerelyn A Nick, Yalan Zhang, Kira Galeano, Brittany Butler, Habibeh Khoshbouei, Sruti Rayaprolu, Tyisha Hathorn, Laura P W Ranum, Lisa Smithson, Todd E Golde, Martin Paucar, Richard Morse, Michael Raff, Julie Simon, Magnus Nordenskjöld, Karin Wirdefeldt, Diego E Rincon-Limas, Jada Lewis, Leonard K Kaczmarek, Pedro Fernandez-Funez, Harry S Nick, Michael F Waters
Published 2017-01-01