1,919 results on '"Schöls, Ludger"'
Search Results
2. Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings
3. The parkin V380L variant is a genetic modifier of Machado–Joseph disease with impact on mitophagy
4. Vitamin D3 deficiency and osteopenia in spastic paraplegia type 5 indicate impaired bone homeostasis
5. Recommendations for optimal interdisciplinary management and healthcare settings for patients with rare neurological diseases
6. Inventory of current practices regarding hematopoietic stem cell transplantation in metachromatic leukodystrophy in Europe and neighboring countries
7. Neuropathy in ARSACS is demyelinating but without typical nerve enlargement in nerve ultrasound
8. Seroprevalence of autoimmune antibodies in degenerative ataxias: a broad, disease-controlled screening in 456 subjects
9. Altered brain dynamics index levels of arousal in complete locked-in syndrome
10. Dysfunctional neuro-muscular mechanisms explain gradual gait changes in prodromal spastic paraplegia
11. Short-read genome sequencing allows ‘en route’ diagnosis of patients with atypical Friedreich ataxia
12. TR-FRET-Based Immunoassay to Measure Ataxin-2 as a Target Engagement Marker in Spinocerebellar Ataxia Type 2
13. Correction to: The frequency of non‑motor symptoms in SCA3 and their association with disease severity and lifestyle factors
14. Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
15. Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder
16. The frequency of non-motor symptoms in SCA3 and their association with disease severity and lifestyle factors
17. Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.
18. “Ears of the lynx” sign and thin corpus callosum on MRI in heterozygous SPG11 mutation carriers
19. Prediction of the disease course in Friedreich ataxia
20. Modified Delphi procedure-based expert consensus on endpoints for an international disease registry for Metachromatic Leukodystrophy: The European Metachromatic Leukodystrophy initiative (MLDi)
21. Proof of principle for the clinical use of a CE-certified automatic imaging analysis tool in rare diseases studying hereditary spastic paraplegia type 4 (SPG4)
22. Comprehensive systematic review summary: Treatment of cerebellar motor dysfunction and ataxia: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology.
23. Consensus Guidelines for the Monitoring and Management of Metachromatic Leukodystrophy in the United States
24. Inventory of current practices regarding hematopoietic stem cell transplantation in metachromatic leukodystrophy in Europe and neighboring countries
25. Newborn screening in metachromatic leukodystrophy – European consensus-based recommendations on clinical management
26. PolyQ-expanded ataxin-3 protein levels in peripheral blood mononuclear cells correlate with clinical parameters in SCA3: a pilot study
27. SCAPER -Related Autosomal Recessive Retinitis Pigmentosa with Intellectual Disability: Confirming and Extending the Phenotypic Spectrum and Bioinformatics Analyses.
28. FARS‐ADL across Ataxias: Construct Validity, Sensitivity to Change, and Minimal Important Change.
29. Blood and cerebellar abundance of ATXN3 splice variants in spinocerebellar ataxia type 3/Machado-Joseph disease
30. Clinical and Neuroradiological Spectrum of Biallelic Variants in NOTCH3
31. Intronic FGF14 GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathy
32. Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxia
33. A deep intronic FGF14 GAA repeat expansion causes late-onset cerebellar ataxia
34. Chromium and cobalt intoxication mimicking mitochondriopathy
35. First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery
36. Unraveling the genetic cause of hereditary ophthalmic disorders in Arab societies from Israel and the Palestinian Authority
37. Non-motor symptoms are relevant and possibly treatable in hereditary spastic paraplegia type 4 (SPG4)
38. Vitamin D3 deficiency and osteopenia in spastic paraplegia type 5 indicate impaired bone homeostasis.
39. Predictors of Survival in Friedreich's Ataxia: A Prospective Cohort Study.
40. Reply to: “Susceptibility‐Weighted Imaging Reveals Subcortical Iron Deposition in PLAN: The ‘Double Cortex Sign’”
41. Adressen
42. Delineating MT-ATP6-associated disease: From isolated neuropathy to early onset neurodegeneration
43. Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy
44. Application of Quantitative Motor Assessments in Friedreich Ataxia and Evaluation of Their Relation to Clinical Measures
45. Model für personalisierte Diagnostik und Therapie in der Neurologie – Deutsche Akademie für Seltene Neurologische Erkrankungen
46. Pattern of Cerebellar Atrophy in Friedreich’s Ataxia—Using the SUIT Template
47. Speech treatment improves dysarthria in multisystemic ataxia: a rater-blinded, controlled pilot-study in ARSACS
48. Phenotypic spectrum of autosomal recessive retinitis pigmentosa without posterior column ataxia caused by mutations in the FLVCR1 gene
49. Genetische Diagnostik zerebellärer Ataxien
50. Correction to: First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.