Abstract Objectives Pediatric intestinal pseudo‐obstruction (PIPO) is a rare, heterogeneous, and severe gut motility disorder. In 2014, Chetaille et al. described chronic atrial and intestinal dysrhythmia (CAID) syndrome associated with a recessive SGO1 mutation (p.Lys23Glu) linking it to both intestinal pseudo‐obstruction and cardiac dysrhythmia. This
Linda Adouane+4 more
wiley +1 more source
Genetically determined Alzheimer's disease research advances: The Down Syndrome & Autosomal Dominant Alzheimer's Disease 2024 Conference. [PDF]
Falgàs N+58 more
europepmc +1 more source
A Novel Intronic Mutation in MBD5 Results in Autosomal Dominant Intellectual Disability Type 1 due to Abnormal Splicing. [PDF]
Jiang H+6 more
europepmc +1 more source
New phenotype of the cerebral autosomal dominant arteriopathy mapped to chromosome 19: migraine as the prominent clinical feature. [PDF]
Marc Vérin+9 more
openalex +1 more source
The Mutational Spectrum of the Sonic Hedgehog Gene in Holoprosencephaly: SHH Mutations Cause a Significant Proportion of Autosomal Dominant Holoprosencephaly [PDF]
Luisa Nanni+16 more
openalex +1 more source
Identification of new families and variants in autosomal dominant macular dystrophy associated with THRB. [PDF]
Fernández-Caballero L+12 more
europepmc +1 more source
On the probability that kidneys are different in autosomal dominant polycystic disease
Kenneth D. Gardner+6 more
openalex +1 more source
Abstract Background Although initial clinical presentation of hyperekplexia/startle disease is well known, data regarding long‐term clinical outcomes is lacking. Objectives We provide a long‐term evaluation from clinical and pharmacological perspectives, focusing on neurodevelopmental trajectory. Methods Twenty‐eight patients from nine French hospitals
Diane Pina+19 more
wiley +1 more source
Intracerebral Hemorrhage in Autosomal Dominant Cerebral Arteriopathy With Subcortical Infarcts and Leukoencephalopathy. [PDF]
Hu F+11 more
europepmc +1 more source
Sex differences in the executive and behavioral reserve of autosomal dominant frontotemporal dementia. [PDF]
Garcia Castro J+29 more
europepmc +1 more source