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1. Clinical characterization of common pathogenic variants of SOD1-ALS in Germany

2. Diagnostic accuracy and confounders of vagus nerve ultrasound in amyotrophic lateral sclerosis—a single-center case series and pooled individual patient data meta-analysis

4. Patients’ and caregivers’ perception of multidimensional and palliative care in amyotrophic lateral sclerosis – protocol of a German multicentre study

7. Effects of tofersen treatment in patients with SOD1-ALS in a “real-world” setting – a 12-month multicenter cohort study from the German early access program

12. Closing the Gap - Detection of 5q-Spinal Muscular Atrophy by Short-Read Next-Generation Sequencing and Unexpected Results in a Diagnostic Patient Cohort

13. Clinical and genetic features of amyotrophic lateral sclerosis patients with C9orf72 mutations

15. Adressen

18. Spectrum and frequency of genetic variants in sporadic amyotrophic lateral sclerosis

19. Methylation of the 4q35 D4Z4 repeat defines disease status in facioscapulohumeral muscular dystrophy

21. Methylation of the 4q35 D4Z4 repeat defines disease status in facioscapulohumeral muscular dystrophy.

22. Muscle MRI findings in limb girdle muscular dystrophy type 2L

24. Sensory neuropathy due to RFC1 in a patient with ALS: more than a coincidence?

27. F28 Novel mutations and findings in a cohort of McLeod neuroacanthocytosis, an X-linked HD phenocopy

33. Location matters – Genotype-phenotype correlation in LRSAM1 mutations associated with rare Charcot-Marie-Tooth neuropathy CMT2P

36. Vorwort

37. Autorinnen und Autoren

48. Myofasziale Schmerzen und Triggerpunkte : Diagnostik und evidenzbasierte Therapiestrategien

49. Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness

50. Disease burden of spinal muscular atrophy in Germany

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