about
eIF2B-related disorders: antenatal onset and involvement of multiple organsCEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the ciliumMutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamicsMutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromesMutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathiesEscobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunitClinical and neuroimaging features as diagnostic guides in neonatal neurology diseases with cerebellar involvementMutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndromeAHI1 gene mutations cause specific forms of Joubert syndrome-related disordersMolecular identification of aspartate N-acetyltransferase and its mutation in hypoacetylaspartiaNon-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease geneDominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathiesSubthalamic nucleus involvement in children: a neuroimaging pattern-recognition approach.Pre- and Postnatal Neuroimaging of Congenital Cerebellar Abnormalities.Pseudotumoral hemicerebellitis as a mimicker of Lhermitte-Duclos disease in children: does neuroimaging help to differentiate them?Chiari Malformations and Syringohydromyelia in Children.Cerebellar and Brainstem Malformations.Prenatal Cerebellar Disruptions: Neuroimaging Spectrum of Findings in Correlation with Likely Mechanisms and Etiologies of Injury.Proven startle-provoked epileptic seizures in childhood: semiologic and electrophysiologic variability.Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.Gómez-López-Hernández syndrome: reappraisal of the diagnostic criteria.Chudley-McCullough syndrome: case report and review of the neuroimaging spectrum.Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI.Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy (PEHO) syndrome in a Swiss child.Congenital abnormalities of the posterior fossa.Optic nerve sheath meningiomas in patients with neurofibromatosis type 2.Cerebellar hypoplasias.Gomez-Lopez-Hernandez syndrome: an easily missed diagnosis.Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvementSymptomatic SUNCT in an eleven-year-old girl.Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome.47 patients with FLNA associated periventricular nodular heterotopiaDisruptive SCYL1 Mutations Underlie a Syndrome Characterized by Recurrent Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia.Differential diagnosis of cerebellar atrophy in childhood.Blepharophimosis and mental retardation (BMR) phenotypes caused by chromosomal rearrangements: description in a boy with partial trisomy 10q and monosomy 4q and review of the literature.Nosological delineation of congenital ocular motor apraxia type Cogan: an observational study.Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disordersMutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes
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P50
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hulumtues
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Eugen Boltshauser
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Eugen Boltshauser
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Eugen Boltshauser
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Eugen Boltshauser
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Eugen Boltshauser
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Eugen Boltshauser
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Eugen Boltshauser
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Eugen Boltshauser
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