225 results on '"Dohrn, Maike"'
Search Results
2. Reduced Gray Matter Volume and Cortical Thickness in Patients With Small-Fiber Neuropathy
3. Deep structured learning for variant prioritization in Mendelian diseases
4. The phenotypic spectrum of pathogenic ATP1A1 variants expands: the novel p.P600R substitution causes demyelinating Charcot–Marie–Tooth disease
5. Clinical and paraclinical features of small fiber neuropathy in Sjögren’s syndrome
6. Peripher neuropathische Fuß
7. Der Charcotfuß
8. Childhood Onset Amyotrophic Lateral Sclerosis Associated with SPTLC2 Gain-of-Function Pathogenic Variants: Clinical, Genetic, and Biochemical Insights (P4-8.001)
9. Heterozygous POLG variant Ser1181Asn co-segregating in a family with autosomal dominant axonal neuropathy, proximal muscle fatigability, ptosis, and ragged red fibers
10. Heterozygous POLG variant Ser1181Asn is associated with autosomal dominant neuro-myopathy in one family with no further specific manifestations of mitochondrial syndrome
11. Genetic pain loss disorders
12. German Perspective on ALS/MND Policy
13. 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
14. New Keys to Early Diagnosis: Muscle Echogenicity, Nerve Ultrasound Patterns, Electrodiagnostic, and Clinical Parameters in 150 Patients with Hereditary Polyneuropathies
15. Neuropathic pain as a symptom in autonomic neuropathies and other rare diseases
16. Deoxy-sphingolipids, oxidative stress, and vitamin C correlate with qualitative and quantitative patterns of small fiber dysfunction and degeneration
17. A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot–Marie–Tooth neuropathy 1A.
18. Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism.
19. A modelling study to dissect the potential role of voltage-gated ion channels in activity-dependent conduction velocity changes as identified in small fiber neuropathy patients
20. Sord deficient rats develop a motor-predominant peripheral neuropathy unveiling novel pathophysiological insights
21. Recurrentde-novo gain-of-functionmutation inSPTLC2confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis
22. Role of high-resolution ultrasound in detection and monitoring of peripheral nerve tumor burden in neurofibromatosis in children
23. Are we creating a new phenotype? Physiological barriers and ethical considerations in the treatment of hereditary transthyretin-amyloidosis
24. Ursachen, Spektrum und Therapie der diabetischen Neuropathie
25. German Perspective on ALS/MND Policy
26. Recurrent de-novo gain-of-function mutation in SPTLC2 confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis.
27. Mutations in alpha‐B‐crystallin cause autosomal dominant axonal Charcot–Marie–Tooth disease with congenital cataracts.
28. Mutations in alpha‐B‐crystallin cause autosomal dominant axonal Charcot–Marie–Tooth disease with congenital cataracts
29. Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies
30. Neuropathische Schmerzsyndrome bei Ionenkanalerkrankungen
31. Immunoglobulins to mitigate paraneoplastic Lambert Eaton Myasthenic Syndrome under checkpoint inhibition in Merkel cell carcinoma
32. Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signs
33. No cure, no care? Diagnostic and therapeutic challenges in rare neuropathic pain syndromes
34. Hereditary motor neuropathies
35. Recurrent de-novo gain-of-functionmutation in SPTLC2confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis
36. Carbamazepine for Chronic Muscle Pain: A Retrospective Assessment of Indications, Side Effects, and Treatment Response
37. Novel variant in CADM3 causes Charcot–Marie–Tooth disease
38. BiP inactivation due to loss of the deAMPylation function of FICD causes a motor neuron disease
39. Clinical and paraclinical features of small fiber neuropathy in Sjögren’s syndrome
40. Diabetische Neuropathien: Aktueller Stand zu Klinik, Diagnostik und Therapie
41. Amyloidogenicity assessment of transthyretin gene variants
42. Frequent genes in rare diseases: panel‐based next generation sequencing to disclose causal mutations in hereditary neuropathies
43. Deep structured learning realizes variant prioritization for Mendelian diseases
44. Ataxia And Cough Are Indicative For Biallelic RFC1 Repeat Expansions In Hereditary Sensory And Autonomic Neuropathy (S29.010)
45. Bioassay-confirmed Pathogenic De Novo ATP1A1 Variants Cause a Complex Neurodevelopmental Syndrome (S29.009)
46. NATURAL HISTORY STUDY OF SORD NEUROPATHY
47. RFC1 repeat expansions: A recurrent cause of sensory and autonomic neuropathy with cough and ataxia
48. Homozygous N-terminal missense variant in PLEKHG5 associated with intermediate CMT: A case report
49. De Novo ATP1A1 Variants in an Early-Onset Complex Neurodevelopmental Syndrome
50. Missense mutations in voltage-gated calcium channels associated with neurodevelopmental and neurodegenerative disorders
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