Suchergebnisse - "Dohrn, Maike F"

PubPharm (78)

1

Sord deficient rats develop a motor-predominant peripheral neuropathy unveiling novel pathophysiological insights

enthalten in: bioRxiv.org | 2024

von Rebelo, A. | Abad, C. | Dohrn, M. | +11

2

Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism

enthalten in: Annals of clinical and translational neurology | 2024

von Dohrn, M. | Bademci, G. | Rebelo, A. | +110

3

A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot-Marie-Tooth neuropathy 1A

enthalten in: Journal of the peripheral nervous system : JPNS | 2024

von Xu, I. | Danzi, M. | Ruiz, A. | +19

4

SORD-deficient rats develop a motor-predominant peripheral neuropathy unveiling novel pathophysiological insights

enthalten in: Brain : a journal of neurology | 2024

von Rebelo, A. | Abad, C. | Dohrn, M. | +11

UpdateOf: bioRxiv. 2023 Dec 07;:. - PMID 38106042

5

Recurrent de-novo gain-of-function mutation in SPTLC2 confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis

enthalten in: Journal of neurology, neurosurgery, and psychiatry | 2024

von Dohrn, M. | Beijer, D. | Lone, M. | +17

6

Neuropathic pain as a symptom in autonomic neuropathies and other rare diseases : Small fiber neuropathy: its recognition, diagnosis, and treatment

enthalten in: Schmerz (Berlin, Germany) | 2024

von Fischer, F. | Dohrn, M. | Kapfenberger, R. | +9

7

Reduced Gray Matter Volume and Cortical Thickness in Patients With Small-Fiber Neuropathy

enthalten in: The journal of pain | 2024

von Scheliga, S. | Dohrn, M. | Habel, U. | +7

8

Mutations in alpha-B-crystallin cause autosomal dominant axonal Charcot-Marie-Tooth disease with congenital cataracts

enthalten in: European journal of neurology | 2024

von Cortese, A. | Currò, R. | Ronco, R. | +14

9

Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism

enthalten in: Annals of Clinical and Translational Neurology | 2024

von Dohrn, M. | Bademci, G. | Rebelo, A. | +9

10

Mutations in alpha‐B‐crystallin cause autosomal dominant axonal Charcot–Marie–Tooth disease with congenital cataracts

enthalten in: European Journal of Neurology | 2024

von Cortese, A. | Currò, R. | Ronco, R. | +14

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