Mitochondrial replacement approaches: challenges for clinical implementation

por Klopstock, Thomas, Klopstock, Barbara, Prokisch, Holger
Publicado 2016

Emerging Disease-Modifying Therapies in Neurodegeneration With Brain Iron Accumulation (NBIA) Disorders

por Iankova, Vassilena, Karin, Ivan, Klopstock, Thomas, Schneider, Susanne A.
Publicado 2021

Editorial: Advances in Therapeutics for Hyperkinetic Movement Disorders

por Klopstock, Thomas, Hall, Deborah, Frucht, Steven, Flamand-Roze, Emmanuel
Publicado 2022

Treat Iron-Related Childhood-Onset Neurodegeneration (TIRCON)—An International Network on Care and Research for Patients With Neurodegeneration With Brain Iron Accumulation (NBIA)...

por Karin, Ivan, Büchner, Boriana, Gauzy, Florence, Klucken, Angelika, Klopstock, Thomas
Publicado 2021

Multi-Omics Approach to Mitochondrial DNA Damage in Human Muscle Fibers

por Elstner, Matthias, Olszewski, Konrad, Prokisch, Holger, Klopstock, Thomas, Murgia, Marta
Publicado 2021

Creatine Protects against Excitoxicity in an In Vitro Model of Neurodegeneration

por Genius, Just, Geiger, Johanna, Bender, Andreas, Möller, Hans-Jürgen, Klopstock, Thomas, Rujescu, Dan
Publicado 2012

Lifetime risk of autosomal recessive neurodegeneration with brain iron accumulation (NBIA) disorders calculated from genetic databases

por Kolarova, Hana, Tan, Jing, Strom, Tim M., Meitinger, Thomas, Wagner, Matias, Klopstock, Thomas
Publicado 2022

Autosomal dominant optic atrophy: A novel treatment for OPA1 splice defects using U1 snRNA adaption

por Jüschke, Christoph, Klopstock, Thomas, Catarino, Claudia B., Owczarek-Lipska, Marta, Wissinger, Bernd, Neidhardt, John
Publicado 2021

An international registry for neurodegeneration with brain iron accumulation

por Kalman, Bernadette, Lautenschlaeger, Ronald, Kohlmayer, Florian, Büchner, Boriana, Kmiec, Thomas, Klopstock, Thomas, Kuhn, Klaus A
Publicado 2012

Biotinidase deficiency: A treatable cause of hereditary spastic paraparesis

por Radelfahr, Florentine, Riedhammer, Korbinian M., Keidel, Leonie F., Gramer, Gwendolyn, Meitinger, Thomas, Klopstock, Thomas, Wagner, Matias
Publicado 2020

Vitamin B12 in Leber hereditary optic neuropathy mutation carriers: a prospective cohort study

por Zibold, Julia, von Livonius, Bettina, Kolarova, Hana, Rudolph, Günter, Priglinger, Claudia S., Klopstock, Thomas, Catarino, Claudia B.
Publicado 2022

The FOsmetpantotenate Replacement Therapy (FORT) randomized, double-blind, Placebo-controlled pivotal trial: Study design and development methodology of a novel primary efficacy ou...

por Klopstock, Thomas, Escolar, Maria L, Marshall, Randall D, Perez-Dueñas, Belen, Tuller, Sarah, Videnovic, Aleksandar, Greblikas, Feriandas
Publicado 2019

LINS1-associated neurodevelopmental disorder: Family with novel mutation expands the phenotypic spectrum

por Neuhofer, Christiane M., Catarino, Claudia B., Schmidt, Heinrich, Seelos, Klaus, Alhaddad, Bader, Haack, Tobias B., Klopstock, Thomas
Publicado 2020

Mast Syndrome Outside the Amish Community: SPG21 in Europe

por Amprosi, Matthias, Indelicato, Elisabetta, Nachbauer, Wolfgang, Hussl, Anna, Stendel, Claudia, Eigentler, Andreas, Gallenmüller, Constanze, Boesch, Sylvia, Klopstock, Thomas
Publicado 2022

Effects of acetyl-dl-leucine in patients with cerebellar ataxia: a case series

por Strupp, Michael, Teufel, Julian, Habs, Maximilian, Feuerecker, Regina, Muth, Carolin, van de Warrenburg, Bart P., Klopstock, Thomas, Feil, Katharina
Publicado 2013

Smoking and alcohol, health-related quality of life and psychiatric comorbidities in Leber’s Hereditary Optic Neuropathy mutation carriers: a prospective cohort study

por Rabenstein, Andrea, Catarino, Claudia B., Rampeltshammer, Verena, Schindler, David, Gallenmüller, Constanze, Priglinger, Claudia, Pogarell, Oliver, Rüther, Tobias, Klopstock, Thomas
Publicado 2021

Distribution of dipeptide repeat proteins in cellular models and C9orf72 mutation cases suggests link to transcriptional silencing

por Schludi, Martin H., May, Stephanie, Grässer, Friedrich A., Rentzsch, Kristin, Kremmer, Elisabeth, Küpper, Clemens, Klopstock, Thomas, Arzberger, Thomas, Edbauer, Dieter
Publicado 2015

Erratum to: Distribution of dipeptide repeat proteins in cellular models and C9orf72 mutation cases suggests link to transcriptional silencing

por Schludi, Martin H., May, Stephanie, Grässer, Friedrich A., Rentzsch, Kristin, Kremmer, Elisabeth, Küpper, Clemens, Klopstock, Thomas, Arzberger, Thomas, Edbauer, Dieter
Publicado 2015

Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C?

por Sobrido, María-Jesús, Bauer, Peter, de Koning, Tom, Klopstock, Thomas, Nadjar, Yann, Patterson, Marc C, Synofzik, Matthis, Hendriksz, Chris J
Publicado 2019

Effects of Idebenone on Color Vision in Patients With Leber Hereditary Optic Neuropathy

por Rudolph, Guenther, Dimitriadis, Konstantinos, Büchner, Boriana, Heck, Suzette, Al-Tamami, Jasmina, Seidensticker, Florian, Rummey, Christian, Leinonen, Mika, Meier, Thomas, Klopstock, Thomas
Publicado 2013