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Items: 3

1.
Novel bi-allelic variants expand the SPTBN4-related genetic and phenotypic spectrum
Markus Buelow, David Süßmuth, Laurie D. Smith, Omid Aryani, Claudia Castiglioni, Werner Stenzel, Enrico Bertini, Markus Schuelke, Ellen Knierim
Eur J Hum Genet. 2021 Jul; 29(7): 1121–1128. Published online 2021 Mar 26. doi: 10.1038/s41431-021-00846-5
PMCID:
PMC8298470
ArticlePDF–1.5M
2.
Severe multisystem pathology, metabolic acidosis, mitochondrial dysfunction, and early death associated with an X-linked AIFM1 variant
Tonya Moss, Melanie May, Heather Flanagan-Steet, Raymond Caylor, Yong-Hui Jiang, Marie McDonald, Michael Friez, Allyn McConkie-Rosell, Richard Steet
Cold Spring Harb Mol Case Stud. 2021 Jun; 7(3): a006081. doi: 10.1101/mcs.a006081
PMCID:
PMC8208043
ArticlePDF–4.9M
3.
Inter-relation between "classic" motor neuron disease and frontotemporal dementia: neuropsychological and single photon emission computed tomography study.
P R Talbot, P J Goulding, J J Lloyd, J S Snowden, D Neary, H J Testa
J Neurol Neurosurg Psychiatry. 1995 May; 58(5): 541–547. doi: 10.1136/jnnp.58.5.541
PMCID:
PMC1073482
ArticlePDF–1.9M

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