Non-progressive congenital ataxias (Q48432385)

11 February 2018

review article

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title

Non-progressive congenital ataxias (English)

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11 February 2018

author name string

Steinlin M

series ordinal

1

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11 February 2018

publication date

1 June 1998

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11 February 2018

published in

Brain and Development

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11 February 2018

volume

20

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11 February 2018

issue

4

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11 February 2018

page(s)

199-208

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11 February 2018

Non-progressive ataxia: origins, brain pathology and impairments in 78 swedish children.

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Nonprogressive cerebellar disorder with mental retardation and autosomal recessive inheritance in Hutterites

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Dominantly inherited early-onset non-progressive cerebellar ataxia syndrome

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An extended phenotype of an early-onset inherited nonprogressive cerebellar ataxia syndrome

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Dominantly inherited hypoplasia of the vermis

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Dominantly inherited congenital cerebellar ataxia with atrophy of the vermis

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Familial cerebral palsy

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Sex-linked recessive congenital ataxia

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Autosomal recessive non-progressive ataxia with an early childhood debut

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7 January 2021

Pontocerebellar hypoplasias. An overview of a group of inherited neurodegenerative disorders with fetal onset

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Dandy-Walker syndrome and agenesis of the cerebellar vermis: diagnostic problems and genetic counselling

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The Dandy-Walker malformation. A review of 40 cases

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Vascular and nonvascular intracranial malformation associated with external capillary hemangiomas

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Ataxia, developmental delay and an extensive neuronal migration abnormality in 2 siblings.

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Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation

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7 January 2021

Joubert Syndrome: Episodic Hyperpnea, Abnormal Eye Movements, Retardation and Ataxia, Associated with Dysplasia of the Cerebellar Vermis

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Joubert syndrome: a review

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Follow-up in children with Joubert syndrome

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The Joubert syndrome associated with bilateral chorioretinal coloboma.

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Hereditary syndrome of congenital retinal blindness (Leber), polycystic kidneys and maldevelopment of the brain

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Further delineation of a syndrome of cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis

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Oral-facial-digital syndrome type VI (Váradi syndrome): further clinical delineation

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Syndrome of polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation in endogamic gypsies.

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Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene

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X-linked nonprogressive congenital cerebellar hypoplasia: clinical description and mapping to chromosome Xq.

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Congenital cerebellar hypoplasia and hypogonadotropic hypogonadism

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Autosomal recessive cerebellar hypoplasia and endosteal sclerosis: A newly recognized syndrome

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Cerebellar hypoplasia, communicating hydrocephalus and mental retardation in two brothers and a maternal uncle.

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Congenital X-linked ataxia, progressive myoclonic encephalopathy, macular degeneration and recurrent infections

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Dandy-Walker(like) malformation, atrio-ventricular septal defect and a similar pattern of minor anomalies in 2 sisters: a new syndrome?

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Another case of Ritscher-Schinzel-syndrome: craniocerebello-cardiac dysplasia (3C-syndrome) with associated bilateral colobomata

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Compensatory head tilt in upbeating nystagmus

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Leber's congenital amaurosis. A retrospective study of 33 cases and a histopathological study of one case

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Congenital cytomegalovirus infection

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Late intrauterine Cytomegalovirus infection: clinical and neuroimaging findings

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Dandy-Walker malformation: etiologic heterogeneity and empiric recurrence risks

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The vestibulo-ocular reflex in pupils at a Dutch school for the hearing impaired; findings relating to acquired causes

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Vestibular deficits in deaf children

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Cerebellar involvement in metabolic disorders: a pattern-recognition approach

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The Mohr syndrome: are there two variants?

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Oto-palatal-digital syndrome type II with X-linked cerebellar hypoplasia/hydrocephalus

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Early neurological manifestations and brain anomalies in Marden-Walker syndrome

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The Klippel-Feil syndrome: genetic and clinical reevaluation of cervical fusion

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Cerebellar hypoplasia in a patient with velo-cardio-facial syndrome.

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The Dandy-Walker syndrome. A clinicopathological study based on 28 cases

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Identifiers

DOI

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11 February 2018

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11 February 2018