Associated Papers
[Sequence variants of unknown significance in small fiber neuropathy : Characterization of a heterogeneous patient population].
Meyer Zu Altenschildesche C et al.
Schmerz (berlin, Germany), 2025
Diagnosing small fiber neuropathy in clinical practice: a deep phenotyping study.
Egenolf N et al.
Therapeutic Advances in Neurological Disorders, 2021
Roles of short fibulins, a family of matricellular proteins, in lung matrix assembly and disease.
Nakamura T
Matrix Biology : Journal of the International Society for Matrix Biology, 2018
Highly penetrant alleles in age-related macular degeneration.
den Hollander AI et al.
Cold Spring Harbor Perspectives in Medicine, 2014
Cuticular drusen: stars in the sky.
Boon CJ et al.
Progress in Retinal and Eye Research, 2013
Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin.
Auer-Grumbach M et al.
Brain : a Journal of Neurology, 2011
Structural effects of fibulin 5 missense mutations associated with age-related macular degeneration and cutis laxa.
Jones RP et al.
Investigative Ophthalmology & Visual Science, 2010
Reduced secretion of fibulin 5 in age-related macular degeneration and cutis laxa.
Lotery AJ et al.
Human Mutation, 2006
Missense variations in the fibulin 5 gene and age-related macular degeneration.
Stone EM et al.
The New England Journal of Medicine, 2004
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