Topics › Life Sciences › Neuroscience › Cellular and Molecular Neuroscience

Hereditary Neurological Disorders Sign in to save

Search and filter its papers →

Aachen papers (primary topic)

192

Further papers (secondary topic)

729

Citations

113

Aachen authors

Patent citations

Papers per year

Papers 70

Open in paper search →

Sord deficient rats develop a motor-predominant peripheral neuropathy unveiling novel pathophysiological insights
2023 bioRxiv (Cold Spring Harbor Laboratory) preprint Neuroscience Hereditary Neurological Disorders Open access

Adriana P. Rebelo, Clemer Abad, Maike Franziska Dohrn, Jian J. Li, Ethan Kim Tieu, Jessica Medina, +8 more

2

citations
A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot–Marie–Tooth neuropathy 1A
2024 Journal of the Peripheral Nervous System article Neuroscience Hereditary Neurological Disorders Open access

Isaac R. L. Xu, Matt Christopher Danzi, Jacquelyn Schatzman Raposo, Yeisha Arcia de Jesus, Mary M. Reilly, Andrea Cortese, +14 more

1

citations
Sequenzvarianten unklarer Signifikanz bei Small-Fiber-Neuropathie
2024 Der Schmerz article Neuroscience Hereditary Neurological Disorders Open access

Caren Meyer zu Altenschildesche, Nadine Egenolf, Annette Lischka, Nurcan Üçeyler

1

citations
Charcot-Marie-Tooth–SORD: insights into pathology and pathophysiology from a human nerve biopsy series
2025 Brain article Neuroscience Hereditary Neurological Disorders

Maike Franziska Dohrn, Davide Pareyson, Chiara Pisciotta, Heike Kölbel, Andreas Roos, Gian Maria Fabrizi, +4 more

1

citations
REEP1 Accumulation Disrupts ER Integrity and Drives Spinal Motoneuron Degeneration in Distal Hereditary Motor Neuropathy
2025 Advanced Science article Neuroscience Hereditary Neurological Disorders Open access

Andrea Bock, Mona K. Schurig, Miles Willoughby, Andrea Mirecki, Eric A. Seemann, Kateryna O. Lohachova, +20 more

1

citations
Heterozygous POLG variant Ser1181Asn is associated with autosomal dominant neuro-myopathy in one family with no further specific manifestations of mitochondrial syndrome
2022 Neurological Research and Practice article Neuroscience Hereditary Neurological Disorders Open access

Maike Franziska Dohrn, Danique Beijer, Lejla Mulahasanovic

1

citations
Disease spectrum and long-term prognosis of patients with BAG3 -associated neuromuscular diseases in Europe
2025 Brain article Neuroscience Hereditary Neurological Disorders Open access

Gorka Fernández‐Eulate, Cyril Gitiaux, Simone Thiele, Heinz Jungbluth, Anna Potulska‐Chromik, Chiara Marini‐Bettolo, +26 more

1

citations
Homozygous N-terminal missense variant in PLEKHG5 associated with intermediate CMT: A case report
2021 Journal of Neuromuscular Diseases article Neuroscience Hereditary Neurological Disorders

Danique Beijer, Kiran Polavarapu, Veeramani Preethish‐Kumar, Mainak Bardhan, Maike Franziska Dohrn, Adriana P. Rebelo, +2 more

1

citations
Longitudinal analysis of lipid changes in the sciatic nerve caused by overexpression of PMP22 in murine models of CMT1A
2026 Journal of Lipid Research article Neuroscience Hereditary Neurological Disorders Open access

Tom P. Hellings, Naima Lamzira-Arichi, Jeroen P. Vreijling, Hailiang Mei, Davy Cats, Tom B. Kuipers, +7 more

1

citations
Pathogenic variants in three families with distal muscle involvement
2022 Neuromuscular Disorders article Neuroscience Hereditary Neurological Disorders Open access

Marian A. J. Weterman, Marieke Bronk, Aldo Jongejan, Jessica E. Hoogendijk, Judith Krudde, Dyah W. Karjosukarso, +7 more

1

citations
P53 MRI muscle volume as a potential biomarker to diagnose and monitor both hereditary and acquired motor neuropathies
2020 Clinical Neurophysiology conference-abstract Neuroscience Hereditary Neurological Disorders

Friederike Bähr, Madlaine Müller, Burkhard Gess, Sandro Romanzetti, Michael Gadermayr, Christiane Katharina Kuhl, +3 more

0

citations
HEREDITARY NEUROPATHIES & ALS
2020 Neuromuscular Disorders article Neuroscience Hereditary Neurological Disorders

Heike Kölbel, Andreas Henschel, Adela Della Marina, Angela Abicht, Albert Sickmann, Joachim Weis, +1 more

0

citations
Charcot-Marie-Tooth neuropathy and pregnancy: general and specific issues
2020 Medizinische Genetik article Neuroscience Hereditary Neurological Disorders Open access

Sabine Rudnik‐Schöneborn, Miriam Elbracht

0

citations
Novel Splice-Site and Missense Variant of PNPLA6 in an Austrian Family Causing Spastic Paraplegia-39 with Cerebellar Oculomotor Disorder
2022 Research Square preprint Neuroscience Hereditary Neurological Disorders Open access

Sebastian Viertauer, Ingo Kurth, Katja Eggermann, Christian Eggers

0

citations
Ataxia And Cough Are Indicative For Biallelic RFC1 Repeat Expansions In Hereditary Sensory And Autonomic Neuropathy (S29.010)
2022 Neurology article Neuroscience Hereditary Neurological Disorders

Danique Beijer, Maike Franziska Dohrn, Jonathan De Winter, Sarah Fazal, Andrea Cortese, Tanya Stojkovic, +7 more

0

citations
Loss of Function, Loss of Pain? Novel Variants in SCN9A to Explain Congenital Insensitivity to Pain in Three Brazilian Cases (4899)
2021 Neurology article Neuroscience Hereditary Neurological Disorders

Vívian Pedigone Cintra, Maike Franziska Dohrn, Pedro José Tomaselli, Fernanda Barbosa Figueiredo, Adriana P. Rebelo, Lisa Abreu, +3 more

0

citations
New Keys to Early Diagnosis: Ultrasound Patterns, Electrodiagnostics, and Clinical Scores in 150 Patients with Hereditary Polyneuropathies (4511)
2021 Neurology article Neuroscience Hereditary Neurological Disorders

Natalie Winter, Debora Vittore, Alexander Grimm, Maike Franziska Dohrn

0

citations
Phenotype spectrum of idiopathic small fiber neuropathies – Experience from a prospective registry study (n > 200)
2024 Clinical Neurophysiology article Neuroscience Hereditary Neurological Disorders

Nicole van den Braak, C Dumke, R. Broschwitz, Andrea Maier, Jörg Bernhard Schulz, Martin Häusler, +5 more

0

citations
Systematic muscle and nerve ultrasound as an early detection and progression marker in the diagnosis of hereditary polyneuropathies
2024 Clinical Neurophysiology article Neuroscience Hereditary Neurological Disorders

K.L. Vockert, Natalie Winter, Maike Franziska Dohrn

0

citations
A Novel MYH14 Variant Presenting as a New Phenotype of MYH14-Associated Neuromuscular Disorders—Clinicohistologic Findings and Review of the Literature
2024 Journal of Clinical Neuromuscular Disease article Neuroscience Hereditary Neurological Disorders

Alexander Mensch, Berit Jordan, Joachim Weis, Stefan Nikolin, Ilka Schneider, Angela Abicht, +7 more

0

citations

Most active Aachen authors

Maike Franziska Dohrn 995 citations overall
33 papers
Joachim Weis 23,101 citations overall
12 papers
Ingo Kurth 13,878 citations overall
11 papers
Jörg Bernhard Schulz 44,963 citations overall
10 papers
Katja Eggermann 2,387 citations overall
10 papers
Frank F. Baas 36,181 citations overall
9 papers
Burkhard Gess 1,764 citations overall
6 papers
Angelika Lampert 4,522 citations overall
5 papers
Miriam Elbracht 3,584 citations overall
5 papers
Annette Lischka 323 citations overall
5 papers
Hailiang Mei 10,927 citations overall
4 papers
Sven Nebelung 4,101 citations overall
4 papers
Kees Fluiter 3,765 citations overall
4 papers
Marian A. J. Weterman 3,553 citations overall
4 papers
István Katona 3,510 citations overall
4 papers

Hereditary Neurological Disorders ▲ Sign in to save

Papers per year

Papers 70

Most active Aachen authors

Hereditary Neurological Disorders Sign in to save