Orphanet Journal of Rare Diseases
Journal Abbreviation: ORPHANET J RARE DIS
ISSN: 1750-1172
Publisher: BioMed Central
Publications (33)
Sleep quality, anxiety, symptoms of depression, and caregiver burden among those caring for patients with Dravet syndrome: a prospective multicenter study in Germany (2023)
Maltseva M, Schubert-Bast S, Zöllner JP, Bast T, Mayer T, von Spiczak S, Ruf S, et al.
Journal article
Identifying adult hypophosphatasia in the rheumatology unit (2022)
Feurstein J, Behanova M, Haschka J, Roetzer K, Uyanik G, Hadzimuratovic B, Witsch-Baumgartner M, et al.
Journal article
Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study (2022)
Pechmann A, Behrens M, Dörnbrack K, Tassoni A, Wenzel F, Stein S, Vogt S, et al.
Journal article
Correction to: Short-term safety results from compassionate use of risdiplam in patients with spinal muscular atrophy in Germany (Orphanet Journal of Rare Diseases, (2022), 17, 1, (276), 10.1186/s13023-022-02420-8) (2022)
Hahn A, Günther R, Ludolph A, Schwartz O, Trollmann R, Weydt P, Weiler M, et al.
Journal article, Erratum
Neuropsychology and MRI correlates of neurodegeneration in SPG11 hereditary spastic paraplegia (2022)
Utz K, Kohl Z, Marterstock D, Dörfler A, Winkler J, Schmidt M, Regensburger M
Journal article
Short-term safety results from compassionate use of risdiplam in patients with spinal muscular atrophy in Germany (2022)
Hahn A, Guenther R, Ludolph A, Schwartz O, Trollmann R, Weydt P, Weiler M, et al.
Journal article
Increased risk of chronic fatigue and hair loss following COVID-19 in individuals with hypohidrotic ectodermal dysplasia (2021)
Hennig V, Schuh W, Neubert A, Mielenz D, Jäck HM, Schneider H
Journal article
Identification of two novel bullous pemphigoid- associated alleles, HLA-DQA1*05:05 and -DRB1*07:01, in Germans (2021)
Schwarm C, Gola D, Holtsche MM, Dieterich A, Bhandari A, Freitag M, Nürnberg P, et al.
Journal article
EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum (2021)
Hüffmeier U, Kraus C, Reuter M, Uebe S, Abbott MA, Ahmed SA, Rawson KL, et al.
Journal article
No evidence for preferential X-chromosome inactivation as the main cause of divergent phenotypes in sisters with X-linked hypohidrotic ectodermal dysplasia (2021)
Körber L, Schneider H, Fleischer N, Maier-Wohlfart S
Journal article