M. Zech

发表

A case of novel DYT6 dystonia variant with serious complications after deep brain stimulation therapy: a case report

R. Jech, J. Winkelmann, J. Necpál, 2022, BMC Neurology.

A case of novel DYT6 dystonia variant with serious complications after deep brain stimulation therapy: a case report

R. Jech, J. Winkelmann, J. Necpál, 2022, BMC Neurology.

Whole-Exome Sequencing Study of Consanguineous Parkinson’s Disease Families and Related Phenotypes: Report of Twelve Novel Variants

A. Shoeibi, Reza Jafarzadeh Esfehani, A. Sadr-Nabavi, 2022, Journal of Molecular Neuroscience.

GNAO1 Haploinsufficiency Associated with a Mild Delayed‐Onset Dystonia Phenotype

T. Sycha, M. Krenn, Rudolf Sommer, 2022, Movement disorders : official journal of the Movement Disorder Society.

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

Michael T. Zimmermann, Rebecca C. Spillmann, Q. K. Tan, 2020, Nature Genetics.

Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies

A. Bassett, B. Trost, M. Reuter, 2022, European Journal of Human Genetics.

A de novo BCL11B variant case manifesting with dystonic movement disorder regarding the article "BCL11B-related disorder in two canadian children: Expanding the clinical phenotype (Prasad et al., 2020)."

S. Berweck, J. Winkelmann, A. Berger, 2022, European journal of medical genetics.

Predictors of whole exome sequencing in dystonic cerebral palsy and cerebral palsy-like disorders.

R. Jech, J. Necpál, P. Havránková, 2023, Parkinsonism & related disorders.

Point mutations in IMPDH2 which cause early-onset neurodevelopmental disorders disrupt enzyme regulation and filament structure

J. Kollman, T. Harel, S. Edvardson, 2023, bioRxiv.

Reply to Letter: Neurodevelopmental Gene‐Related Dystonia: A Pediatric Case with NAA15 Variant

I. Straka, M. Zech, J. Švantnerová, 2022, Movement Disorders.

A. Blaschek, E. Graf, R. Berutti, 2023, Parkinsonism & related disorders.

Rare variants in PPFIA3 cause delayed development, intellectual disability, autism, and epilepsy

Alyssa A. Tran, Undiagnosed Diseases Network, J. Rosenfeld, 2023, medRxiv.

Adult‐Onset Neurodegeneration in Nucleotide Excision Repair Disorders: More Common than Expected

R. Jech, J. Winkelmann, J. Baloghova, 2022, Movement disorders : official journal of the Movement Disorder Society.

Loss-of-Function Variants in DRD1 in Infantile Parkinsonism-Dystonia

M. Topf, M. Heys, M. Kurian, 2023, Cells.

Recessive NUP54 Variants Underlie Early‐Onset Dystonia with Striatal Lesions

H. Prokisch, J. Winkelmann, V. Mall, 2022, Annals of neurology.

Nuclear Pore Complex Dysfunction in Dystonia Pathogenesis: Nucleoporins in the Spotlight

M. Zech, A. di Fonzo, 2022, Movement disorders : official journal of the Movement Disorder Society.

New-Onset Refractory Status Epilepticus Due to a Novel MT-TF Variant

S. Berweck, S. Boesch, I. Unterberger, 2023, Neurology: Genetics.

Episignature analysis of moderate effects and mosaics

R. Jech, B. Haslinger, J. Winkelmann, 2023, European Journal of Human Genetics.

Dystonia Linked to EIF4A2 Haploinsufficiency: A Disorder of Protein Translation Dysfunction

H. Prokisch, R. Jech, B. Haslinger, 2023, Movement disorders : official journal of the Movement Disorder Society.

A new serologic marker in ankylosing spondylitis.

H. Will, M. Zech, H. Lakomek, 1984, Arthritis and rheumatism.

POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies.

Lisa A. Lansdon, O. Devinsky, R. Jech, 2023, American journal of human genetics.

Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder

Jill A. Madden, J. Rosenfeld, J. R. Younce, 2023, medRxiv.

Neurodevelopmental disorder mutations in the purine biosynthetic enzyme IMPDH2 disrupt its allosteric regulation

J. Kollman, T. Harel, S. Edvardson, 2023, The Journal of biological chemistry.

De novo retinoic acid receptor beta (RARB) variant associated with microphthalmia and dystonia.

S. Berweck, C. Wilhelm, M. Zech, 2023, European journal of medical genetics.

Copy number analysis from whole-exome sequencing data revealed a novel homozygous deletion in PARK7 leads to severe early-onset Parkinson's disease.

A. Shoeibi, Reza Jafarzadeh Esfehani, A. Sadr-Nabavi, 2023, Heliyon.

Variants in ATP5F1B are associated with dominantly inherited dystonia

L. Romito, H. Prokisch, D. Krainc, 2023, Brain : a journal of neurology.

Confirmation of a Causal Role for SHQ1 Variants in Early Infantile‐Onset Recessive Dystonia

J. Winkelmann, S. Boesch, B. Plecko, 2022, Movement disorders : official journal of the Movement Disorder Society.

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

Michael T. Zimmermann, Rebecca C. Spillmann, Q. K. Tan, 2021, Nature Genetics.

Challenges in Establishing the Diagnosis of PRRT2 ‐Related Dystonia: Recurrent Pathogenic Variants in a Homopolymeric Stretch

R. Jech, J. Winkelmann, A. Blaschek, 2023, Movement Disorders Clinical Practice.

Clinical actionability of genetic findings in cerebral palsy

R. Segel, R. Wintle, D. Fehlings, 2023, medRxiv.

Genetics and Pathogenesis of Dystonia.

M. Zech, Lara M. Lange, M. Thomsen, 2023, Annual review of pathology.

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.

Gabor T. Marth, Laurel A. Cobban, Lisa T. Emrick, 2024, American journal of human genetics.