M. Dohrn

发表

[CASE REPORT] Homozygous N-terminal missense variant in PLEKHG5 associated with intermediate CMT: a case report

S. Züchner, A. Rebelo, A. Nalini, 2021, Journal of Neuromuscular Diseases.

Rare mutations in ATL3, SPTLC2 and SCN9A explaining hereditary sensory neuropathy and congenital insensitivity to pain in a Brazilian cohort

S. Züchner, A. Rebelo, W. Marques, 2021, Journal of the Neurological Sciences.

Hereditary motor neuropathies

M. Saporta, M. Dohrn, Maike F. Dohrn, 2020, Current opinion in neurology.

Deoxy-sphingolipids, oxidative stress, and vitamin C correlate with qualitative and quantitative patterns of small fiber dysfunction and degeneration

T. Hornemann, J. Vollert, A. Lampert, 2022, Pain.

Role of high-resolution ultrasound in detection and monitoring of peripheral nerve tumor burden in neurofibromatosis in children

H. Gruber, A. Grimm, A. Loizides, 2020, Child's Nervous System.

Amyloidogenicity assessment of transthyretin gene variants

J. Stetefeld, J. Bräsen, J. Schmitz, 2022, Annals of clinical and translational neurology.

Immunoglobulins to mitigate paraneoplastic Lambert Eaton Myasthenic Syndrome under checkpoint inhibition in Merkel cell carcinoma

J. Schulz, B. Gess, S. Tauber, 2020, Neurological Research and Practice.

Progressive multifocal leukoencephalopathy and immune reconstitution inflammatory syndrome in seven patients with sarcoidosis: a critical discussion of treatment and prognosis

J. Panse, R. Gold, J. Schulz, 2021, Therapeutic advances in neurological disorders.

BiP inactivation due to loss of the deAMPylation function of FICD causes a motor neuron disease.

R. Schüle, H. Houlden, A. Rebelo, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Heterozygous POLG variant Ser1181Asn is associated with autosomal dominant neuro-myopathy in one family with no further specific manifestations of mitochondrial syndrome

J. Weis, J. Schulz, S. Biskup, 2022, Neurological Research and Practice.

Carbamazepine for Chronic Muscle Pain: A Retrospective Assessment of Indications, Side Effects, and Treatment Response

R. Rolke, B. Gess, M. Dohrn, 2023, Brain sciences.

Chance or challenge, spoilt for choice? New recommendations on diagnostic and therapeutic considerations in hereditary transthyretin amyloidosis with polyneuropathy: the German/Austrian position and review of the literature

R. Baron, C. Sommer, E. Hund, 2020, Journal of Neurology.

Are we creating a new phenotype? Physiological barriers and ethical considerations in the treatment of hereditary transthyretin-amyloidosis

E. Hund, M. F. Dohrn, J. Medina, 2021, Neurological Research and Practice.

The phenotypic spectrum of pathogenic ATP1A1 variants expands: the novel p.P600R substitution causes demyelinating Charcot–Marie–Tooth disease

S. Züchner, A. Rebelo, K. Kleopa, 2023, Journal of Neurology.

Genetic pain loss disorders

David L. Bennett, T. Hornemann, Y. Parman, 2022, Nature Reviews Disease Primers.