Results 101 to 110 of about 19,788 (203)
INPP5E Preserves Genomic Stability through Regulation of Mitosis [PDF]
, 2017 The partially understood phosphoinositide signaling cascade regulates multiple aspects of cellular metabolism. Previous studies revealed that INPP5E, the inositol polyphosphate-5-phosphatase that is mutated in the developmental disorders Joubert and MORM
Cerabona, D +8 more
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Joubert Syndrome: A Case Report
Nepal Journal of Neuroscience, 2018 Joubert syndrome (JS) isa rare autosomal recessive neuro developmental disorder involving cerebellar vermis and brainstem, marked by agenesis of cerebellar vermis, ataxia, hypotonia, oculomotor apraxia, neonatal breathing problems and mental retardation.
Prakash Kafle +5 more
doaj +1 more source
MRI with fibre tracking in Cogan congenital oculomotor apraxia [PDF]
, 2018 Background: Congenital ocular motor apraxia (COMA) occasionally shares with Joubert syndrome (JS) and related disorders (JSRDs) a peculiar malformation, the ‘molar tooth sign' (MTS).
De Haller, Raoul +4 more
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مجله دانشگاه علوم پزشکی گرگان, 2016 Case presentation: A 20 month-old hypotonic boy with a history of preterm labor at 32 weeks of gestational age, secondary generalized seizures in infancy, hypothyroidism (T4: 2, TSH: 14); motor and speech developmental delay, mild ataxia and renal ...
Hosseininejad SM +2 more
doaj
The cerebellum in cognitive processes: Supporting studies in children [PDF]
, 2018 Over the last decade, increasing evidence of cognitive functions of the cerebellum during development and learning processes could be ascertained. Posterior fossa malformations such as cerebellar hypoplasia or Joubert syndrome are known to be related to ...
Steinlin, Maja
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Joubert Syndrome: Radiographic Images
Case Reports in Clinical Practice, 2017 No ...
Reza Bidaki +3 more
doaj
A Novel Mutation in the OFD1 Gene in a Family with Oral-Facial-Digital Syndrome Type 1: A Case Report. [PDF]
, 2016 Oral-facial-digital syndrome as heterogeneous developmental conditions is characterized by abnormalities in the oral cavity, facial features and digits.
Baple, EL +10 more
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When is biopsy-proven TIN not simply TIN? Answers [PDF]
, 2017 This article refers to the article that can be found at doi: 10.1007/s00467-016-3465 ...
Chong, WK +4 more
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Impact of the AHI1 Gene on the Vulnerability to Schizophrenia: A Case-Control Association Study [PDF]
, 2010 Background: The Abelson helper integration-1 (AHI1) gene is required for both cerebellar and cortical development in humans. While the accelerated evolution of AHI1 in the human lineage indicates a role in cognitive (dys)function, a linkage scan in large
Kittel-Schneider, Sarah +7 more
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Neuropsychological, Behavioral, and Anatomical Evolution in Right Temporal Variant Frontotemporal Dementia: A Longitudinal Single Case Analysis [PDF]
, 2010 We examine longitudinal clinical and anatomical data for a patient with the right temporal variant of frontotemporal dementia. The patient received comprehensive clinical evaluations and structural MRI scans over three years.
Cattaruzza, Tatiana +7 more
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