T. Lotze

发表

An unusual cause of peroneal neuropathy.

S. Lalani, Yaping Yang, Amitha L Ananth, 2014, Seminars in pediatric neurology.

TLR7 gain-of-function genetic variation causes human lupus

T. Andrews, J. Lupski, V. Pascual, 2022, Nature.

Novel use of nusinersen as a therapeutic bridge to onasemnogene abeparvovec‐xioi in a premature neonate with type 1 spinal muscular atrophy

Alexandria E. Melendez-Zaidi, T. Lotze, L. Ferrante, 2022, Muscle & nerve.

Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.

Mahshid S. Azamian, J. Lupski, R. Gibbs, 2014, American journal of human genetics.

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

J. Rosenfeld, L. Vissers, H. Peeters, 2021, Genome medicine.

Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially

Michael F. Wangler, J. Rosenfeld, J. Lupski, 2017, PLoS genetics.

Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.

Bradley P. Coe, Mahshid S. Azamian, Lisa T. Emrick, 2016, American journal of human genetics.

A homozygous mutation in PEX16 identified by whole-exome sequencing ending a diagnostic odyssey

Michael F. Wangler, A. Moser, F. Xia, 2015, Molecular genetics and metabolism reports.

TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy

E. Hoffman, A. Pestronk, R. Abresch, 2020, European Journal of Human Genetics.

Towards regulatory endorsement of drug development tools to promote the application of model-informed drug development in Duchenne muscular dystrophy

R. Finkel, A. Pestronk, E. Mazzone, 2019, Journal of Pharmacokinetics and Pharmacodynamics.

Paroxysmal kinesigenic dyskinesias.

J. Jankovic, J. Jankovic, T. Lotze, 2003, Seminars in pediatric neurology.