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UnknownExome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease.
Not available
S-EPMC3437022 | biostudies-literature
UnknownSwitchable slow relaxation of magnetization in the native low temperature phase of a cooperative spin-crossover compound.
Not available
S-EPMC5363372 | biostudies-literature
UnknownNucleoporins redistribute inside the nucleus after cell cycle arrest induced by histone deacetylases inhibition.
Not available
S-EPMC5703243 | biostudies-literature
UnknownINPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH.
Not available
S-EPMC8418339 | biostudies-literature
UnknownBroad-band spectroscopy of a vanadyl porphyrin: a model electronuclear spin qudit.
Not available
S-EPMC8179683 | biostudies-literature
UnknownCongenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene.
Not available
S-EPMC3060325 | biostudies-literature
UnknownMarked Facial Weakness, Ptosis, and Hanging Jaw: A Case with RYR1 -Related Congenital Centronuclear Myopathy.
Not available
S-EPMC10756716 | biostudies-literature
UnknownNovel Pathogenic Variants in a French Cohort Widen the Mutational Spectrum of GNE Myopathy.
Not available
S-EPMC5278624 | biostudies-literature
UnknownThe new missense G376V-TDP-43 variant induces late-onset distal myopathy but not amyotrophic lateral sclerosis.
Not available
S-EPMC11068115 | biostudies-literature
UnknownValidity of the French version of the Autonomy Preference Index and its adaptation for patients with advanced cancer.
Not available
S-EPMC6959662 | biostudies-literature
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