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Papers in Hereditary Neurological Disorders 44

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Genetic pain loss disorders
2022 Nature Reviews Disease Primers review Neuroscience Hereditary Neurological Disorders Open access cited by 2 patents

Annette Lischka, Petra Laššuthová, Arman Çakar, Christopher J. Record, Jonas Van Lent, Jonathan Baets, +16 more

62

citations
NCAM1 and GDF15 are biomarkers of Charcot-Marie-Tooth disease in patients and mice
2022 Brain article Neuroscience Hereditary Neurological Disorders Open access

Alexia Kagiava, Leen Vendredy, Emily L. Spaulding, Marina Stavrou, Denisa Hathazi, Anika Grüneboom, +11 more

42

citations
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies
2023 Brain article Neuroscience Hereditary Neurological Disorders Open access

Annette Lischka, Katja Eggermann, Christopher J. Record, Maike Franziska Dohrn, Petra Laššuthová, Florian Kraft, +75 more

31

citations
Pregnancy outcome in Charcot–Marie–Tooth disease: results of the CMT‐NET cohort study in Germany
2020 European Journal of Neurology article Neuroscience Hereditary Neurological Disorders Open access

Sabine Rudnik‐Schöneborn, Simone Thiele, Michael Werner Sereda, R. Schöneborn, Miriam Elbracht

25

citations
New Keys to Early Diagnosis: Muscle Echogenicity, Nerve Ultrasound Patterns, Electrodiagnostic, and Clinical Parameters in 150 Patients with Hereditary Polyneuropathies
2021 Neurotherapeutics article Neuroscience Hereditary Neurological Disorders Open access

Natalie Winter, Debora Vittore, Burkhard Gess, Jörg Bernhard Schulz, Alexander Grimm, Maike Franziska Dohrn

17

citations
Nerve Sonography in Charcot–Marie–Tooth Disease: A Systematic Review and Meta-analysis of 6061 Measured Nerves
2022 Ultrasound in Medicine & Biology review Neuroscience Hereditary Neurological Disorders

Ramy Abdelnaby, Anas Elgenidy, Yousef Tarek Sonbol, Khaled Tarek Dardeer, Imene Maallem, Merna Wagih Youssef, +7 more

14

citations
Differential Diagnosis of Acquired and Hereditary Neuropathies in Children and Adolescents—Consensus-Based Practice Guidelines
2021 Children article Neuroscience Hereditary Neurological Disorders Open access

Rudolf Korinthenberg, Regina Trollmann, Barbara Plecko, Georg Martin Stettner, Markus Blankenburg, Joachim Weis, +5 more

14

citations
Rare mutations in ATL3, SPTLC2 and SCN9A explaining hereditary sensory neuropathy and congenital insensitivity to pain in a Brazilian cohort
2021 Journal of the Neurological Sciences article Neuroscience Hereditary Neurological Disorders Open access

Vívian Pedigone Cintra, Maike Franziska Dohrn, Pedro José Tomaselli, Fernanda Barbosa Figueiredo, Sandra Elisabete Marques, Sarah Camargos, +6 more

12

citations
Hereditary Sensory and Autonomic Neuropathy
2022 Neurology India article Neuroscience Hereditary Neurological Disorders

Renu Suthar, Indar Kumar Sharawat, Katja Eggermann, Hansashree Padmanabha, Arushi Gahlot Saini, Bhavneet Bharti, +3 more

12

citations
Myelin protein zero mutation‐related hereditary neuropathies: Neuropathological insight from a new nerve biopsy cohort
2023 Brain Pathology article Neuroscience Hereditary Neurological Disorders Open access

Juliane Bremer, Axel Meinhardt, István Katona, Jan Senderek, Elke K. Kämmerer‐Gassler, Andreas Roos, +14 more

12

citations
Mutations in alpha‐B‐crystallin cause autosomal dominant axonal Charcot–Marie–Tooth disease with congenital cataracts
2023 European Journal of Neurology article Neuroscience Hereditary Neurological Disorders Open access

Andrea Cortese, Riccardo Curró, Riccardo Ronco, Julian C. Blake, Alexander Martin Rossor, Enrico Bugiardini, +10 more

12

citations
Hereditary motor neuropathies
2020 Current Opinion in Neurology article Neuroscience Hereditary Neurological Disorders

Maike Franziska Dohrn, Mario Saporta

11

citations
The phenotypic spectrum of pathogenic ATP1A1 variants expands: the novel p.P600R substitution causes demyelinating Charcot–Marie–Tooth disease
2023 Journal of Neurology article Neuroscience Hereditary Neurological Disorders Open access

Feride Cinarli, Paschalis Nicolaou, Kerri Spontarelli, Maike Franziska Dohrn, Adriana P. Rebelo, Pantelitsa Koutsou, +5 more

11

citations
Novel Genetic and Biochemical Insights into the Spectrum of NEFL -Associated Phenotypes
2024 Journal of Neuromuscular Diseases article Neuroscience Hereditary Neurological Disorders Open access

Adela Della Marina, Andreas Hentschel, Artur Czech, Ulrike Schara‐Schmidt, Corinna Preuße, Andreas Laner, +7 more

10

citations
Peripheral Nerve Disorders
2020 Springer eBooks book-chapter Neuroscience Hereditary Neurological Disorders

Mustafa Abdalla M Salih, Hamid Azzedine

10

citations
Peripheral Neuropathies
2020 Medizinische Genetik article Neuroscience Hereditary Neurological Disorders Open access

Ingo Kurth

6

citations
Semi-Automatic MRI Muscle Volumetry to Diagnose and Monitor Hereditary and Acquired Polyneuropathies
2021 Brain Sciences article Neuroscience Hereditary Neurological Disorders Open access

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

4

citations
A recurrent missense variant in ITPR3 causes demyelinating Charcot-Marie-Tooth with variable severity
2024 Brain article Neuroscience Hereditary Neurological Disorders Open access

Danique Beijer, Maike Franziska Dohrn, Adriana P. Rebelo, Matt Christopher Danzi, Bianca Rose Grosz, Melina Ellis, +22 more

4

citations
Novel variant in CADM3 causes Charcot–Marie–Tooth disease
2023 Brain Communications article Neuroscience Hereditary Neurological Disorders Open access

Abdoulaye Yalcouyé, Adriana P. Rebelo, Lassana Cissé, Lynette C. Rives, Salia Bamba, Joy D. Cogan, +10 more

3

citations
Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia
2026 Nature Communications article Neuroscience Hereditary Neurological Disorders Open access

Benita Menden, Rana Dilara Incebacak Eltemur, German M. Demidov, Marc Sturm, Joohyun Park, Chrisovalantou Huridou, +94 more

3

citations
Novel phenotype with prominent cerebellar oculomotor dysfunction in spastic paraplegia type 39
2022 Journal of Neurology article Neuroscience Hereditary Neurological Disorders Open access

Sebastian Viertauer, Ingo Kurth, Katja Eggermann, Christian Eggers

3

citations
Effective treatment of advanced Hodgkin lymphoma with a modified BEACOPP regimen for a patient with demyelinating hereditary motor and sensory neuropathy type 1 (HMSN1)
2022 Clinical Case Reports article Neuroscience Hereditary Neurological Disorders Open access

Patrick P Hess, Mónica S. Ventura Ferreira, Benjamin Rolles, Martin Kirschner, Florian Holtbernd, Mareike Tometten, +2 more

3

citations
Phenotypic spectrum of variants in the FIG4 gene: variants associated with Charcot-Marie-Tooth 4J and parkinsonism
2025 European Journal of Medical Genetics article Neuroscience Hereditary Neurological Disorders Open access

Barbora Lauerová, Radim Mazanec, Katja Eggermann, Dana Šafka Brožková, Annette Lischka, Pavel Seeman, +2 more

2

citations
RNA Interference Targeting Small Heat Shock Protein B8 Failed to Improve Distal Hereditary Motor Neuropathy in the Mouse Model
2025 The Journal of Gene Medicine article Neuroscience Hereditary Neurological Disorders

Leen Vendredy, Vicky De Winter, Jonas Van Lent, Jasmien Ellen Maria Jozef Orije, Tatiana Da Silva Authier, István Katona, +5 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