Natalie Deininger
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View article: Expansion of the phenotypic and molecular spectrum of <scp>CWF19L1</scp> ‐related disorder
Expansion of the phenotypic and molecular spectrum of <span>CWF19L1</span> ‐related disorder Open
Pathogenic variants in CWF19L1 lead to a rare autosomal recessive form of hereditary ataxia with only seven cases reported to date. Here, we describe four additional unrelated patients with biallelic variants in CWF19L1 (age range: 6–22 ye…
View article: Bi‐Allelic <scp><i>COQ4</i></scp> Variants Cause Adult‐Onset Ataxia‐Spasticity Spectrum Disease
Bi‐Allelic <span><i>COQ4</i></span> Variants Cause Adult‐Onset Ataxia‐Spasticity Spectrum Disease Open
Background COQ4 codes for a mitochondrial protein required for coenzyme Q 10 (CoQ 10 ) biosynthesis. Autosomal recessive COQ4 ‐associated CoQ 10 deficiency leads to an early‐onset mitochondrial multi‐organ disorder. Methods In‐house exome …
View article: Adult‐Onset Neurodegeneration in Nucleotide Excision Repair Disorders (<scp>NERD<sub>ND</sub></scp>): Time to Move Beyond the Skin
Adult‐Onset Neurodegeneration in Nucleotide Excision Repair Disorders (<span>NERD<sub>ND</sub></span>): Time to Move Beyond the Skin Open
Background Variants in genes of the nucleotide excision repair (NER) pathway have been associated with heterogeneous clinical presentations ranging from xeroderma pigmentosum to Cockayne syndrome and trichothiodystrophy. NER deficiencies m…
View article: A Novel <scp><i>NPTX1</i> de novo</scp> Variant in a Late‐Onset Ataxia Patient
A Novel <span><i>NPTX1</i> de novo</span> Variant in a Late‐Onset Ataxia Patient Open
Recently, two missense mutations in NPTX1 were identified as a cause of autosomal dominant cerebellar ataxia by triggering endoplasmic reticulum stress.1 The NPTX1-encoded protein neuronal pentraxin 1 (NP1) is exclusively expressed in the …
View article: <i>NPTX1</i> mutations trigger endoplasmic reticulum stress and cause autosomal dominant cerebellar ataxia
<i>NPTX1</i> mutations trigger endoplasmic reticulum stress and cause autosomal dominant cerebellar ataxia Open
With more than 40 causative genes identified so far, autosomal dominant cerebellar ataxias exhibit a remarkable genetic heterogeneity. Yet, half the patients are lacking a molecular diagnosis. In a large family with nine sampled affected m…
View article: Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease
Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease Open
Objective: To delineate the full phenotypic spectrum, discriminative features, piloting longitudinal progression data, and sample size calculations of RFC1-repeat expansions, recently identified as causing cerebellar ataxia, neuropathy, ve…
View article: Tetraparesis and sensorimotor axonal polyneuropathy due to co-occurrence of Pompe disease and hereditary ATTR amyloidosis
Tetraparesis and sensorimotor axonal polyneuropathy due to co-occurrence of Pompe disease and hereditary ATTR amyloidosis Open
Introduction/aims Hereditary transthyretin amyloidosis with polyneuropathy (hATTRPN) is an autosomal dominant multi-organ disorder manifesting in the third to fifth decade with the key clinical features of distal and painful sensory loss o…
View article: <i>De novo</i> variants in <i>SLC12A6</i> cause sporadic early-onset progressive sensorimotor neuropathy
<i>De novo</i> variants in <i>SLC12A6</i> cause sporadic early-onset progressive sensorimotor neuropathy Open
Background Charcot-Marie-Tooth disease (CMT) is a clinically and genetically heterogeneous disorder of the peripheral nervous system. Biallelic variants in SLC12A6 have been associated with autosomal-recessive hereditary motor and sensory …
View article: CERA Attenuates Kidney Fibrogenesis in the db/db Mouse by Influencing the Renal Myofibroblast Generation
CERA Attenuates Kidney Fibrogenesis in the db/db Mouse by Influencing the Renal Myofibroblast Generation Open
Tubulointerstitial fibrosis (TIF) is a pivotal pathophysiological process in patients with diabetic nephropathy (DN). Multiple profibrotic factors and cell types, including transforming growth factor beta 1 (TGF-β1) and interstitial myofib…