Results 11 to 20 of about 2,206,324 (288)
Zespół Joubert i schorzenia pokrewne [PDF]
Neurologia i Neurochirurgia Polska, 1970 The cerebellum plays a role not only in motor control but also in motor learning and cognition. Joubert syndrome is a rare heterogeneous inherited genetic disorder characterized by ataxia, hypotonia, developmental delay, and at least one of the following
Jamroz, Ewa, Paprocka, Justyna
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Sleep, Respiration and Nocturnal Paroxysmal Events in Joubert Syndrome: A Case Report [PDF]
Nature and Science of Sleep, 2022 Rosa Peraita-Adrados Sleep and Epilepsy Unit- Clinical Neurophysiology Service, University General Hospital and Research Institute Gregorio Marañón, University Complutense of Madrid (UCM), Madrid, SpainCorrespondence: Rosa Peraita-Adrados, Email rosa ...
Peraita-Adrados R
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Uncertain significance and molecular insights of CPLANE1 variants in prenatal diagnosis of Joubert syndrome: a case report [PDF]
BMC Pregnancy and ChildbirthBackground Prenatal whole exome sequencing (WES) is becoming an increasingly used diagnostic tool for fetuses with structural anomalies. However, the identification of variants of uncertain significance (VUS) in clinically relevant genes can ...
Si-Xiu Li +8 more
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Joubert syndrome: A classic case
Journal of Family Medicine and Primary Care, 2019 Joubert syndrome is a rare autosomal recessive disorder characterized by hyperpnoea and eye movements, hypotonia, ataxia, developmental retardation with neuropathologic abnormalities of cerebellum and brainstem including inherited hypoplasia or aplasia ...
Puneeth Kumar +5 more
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Radiological features of Joubert syndrome and clinical case presentation [PDF]
Radiology Case ReportsJoubert Syndrome, manifests in a spectrum of neurological symptoms. This case describes a 7-year-old girl with perinatal complications, and subsequent neurodevelopmental challenges. An MRI confirmed the diagnosis of Joubert syndrome, with the distinctive
Jorge Ariel Montero Torres, MD +4 more
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Joubert Syndrome Presenting with Motor Delay and Oculomotor Apraxia [PDF]
Case Reports in Pediatrics, 2011 We describe two sisters who presented in early childhood with motor delay and unusual eye movements. Both demonstrated hypotonia and poor visual attention.
Harjinder Gill +4 more
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Joubert Syndrome, A Ciliopathy
Pediatric Neurology Briefs, 2013 Investigators at Neurogenetics Unit, Mendel Laboratory, Rome, and University of Salerno, Italy, review the clinical features and genetic basis of Joubert syndrome, overlap with other ciliopathies, and the multifaceted roles of primary cilia in CNS ...
J Gordon Millichap
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Signe de àla dent molaire à: aspect caractéristique en IRM du syndrome de Joubert
The Pan African Medical Journal, 2015 Le syndrome de Joubert est une affection génétique rare, de transmission autosomique récessive, caractérisé par une malformation congénitale du tronc cérébral et une agénésie ou une hypoplasie du vermis cérébelleux entraînant des troubles respiratoires ...
Manel Jellouli, Tahar Gargah
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NGAL as an early biomarker of kidney disease in Joubert syndrome: three brothers compared. [PDF]
, 2012 Joubert syndrome (JBTS) is a rare autosomal recessive disorder with an underestimated prevalence due to lack of recognition of clinical signs or failure to diagnose this pathology.
Antonio Lacquaniti +7 more
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