M. Wiessner

Screening for vesicoureteral reflux in children using real-time sonography

H. Fendel, K. Schneider, C. Jablonski, 2006, Pediatric Radiology.

Association of A Novel Splice Site Mutation in P/Q-Type Calcium Channels with Childhood Epilepsy and Late-Onset Slowly Progressive Non-Episodic Cerebellar Ataxia

P. Bauer, J. Senderek, T. Klopstock, 2020, International journal of molecular sciences.

SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy

T. Strom, A. Blaschek, B. Dräger, 2018, Human Genetics.

Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment

Andreas Roos, Francesco Muntoni, Rita Barresi, 2017, American journal of human genetics.

SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy

T. Strom, A. Blaschek, B. Dräger, 2018, Human Genetics.

Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.

A. Pagnamenta, Changlian Zhu, T. Strom, 2021, Brain : a journal of neurology.

The genetic landscape of axonal neuropathies in the middle-aged and elderly

B. Schlotter-Weigel, T. Strom, S. Züchner, 2020, Neurology.

The new missense G376V-TDP-43 variant induces late-onset distal myopathy but not amyotrophic lateral sclerosis

J. Senderek, T. Nonaka, Edwige Belotti, 2023, Brain : a journal of neurology.