(Q27315776)

English

Inferior cerebellar hypoplasia resembling a Dandy-Walker-like malformation in purebred Eurasier dogs with familial non-progressive ataxia: a retrospective and prospective clinical cohort study

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scholarly article

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Inferior cerebellar hypoplasia resembling a Dandy-Walker-like malformation in purebred Eurasier dogs with familial non-progressive ataxia: a retrospective and prospective clinical cohort study (English)

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cerebellar hypoplasia

1 reference

based on heuristic

inferred from title

9

object named as

Andrea Fischer

author given names

Andrea

author last names

Fischer

1 reference

PubMed publication ID

19 October 2023

Kaspar Matiasek

object named as

Kaspar Matiasek

5

author given names

Kaspar

author last names

Matiasek

1 reference

PubMed publication ID

19 October 2023

author name string

Filipa Bernardino

1

author given names

Filipa

author last names

Bernardino

1 reference

PubMed publication ID

19 October 2023

Kai Rentmeister

2

author given names

Kai

author last names

Rentmeister

1 reference

PubMed publication ID

19 October 2023

Martin J Schmidt

3

author given names

Martin J

author last names

Schmidt

1 reference

PubMed publication ID

19 October 2023

Andreas Bruehschwein

4

author given names

Andreas

author last names

Bruehschwein

1 reference

PubMed publication ID

19 October 2023

Lara A Matiasek

6

author given names

Lara A

author last names

Matiasek

1 reference

PubMed publication ID

19 October 2023

Alexander Lauda

7

author given names

Alexander

author last names

Lauda

1 reference

PubMed publication ID

19 October 2023

Heinz A Schoon

8

author given names

Heinz A

author last names

Schoon

1 reference

PubMed publication ID

19 October 2023

language of work or name

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publication date

2015

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10

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2

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e0117670

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copyright license

Creative Commons Attribution 4.0 International

10 February 2015

1 reference

April 2022 Public Data File from Crossref

copyright status

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Cerebellar development and disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4323131

21 March 2017

Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4323131

21 March 2017

Prenatal diagnosis of 'isolated' Dandy-Walker malformation: imaging findings and prenatal counselling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4323131

21 March 2017

Cerebellar hypoplasia, with quadrupedal locomotion, caused by mutations in the very low-density lipoprotein receptor gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4323131

21 March 2017

Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4323131

21 March 2017

Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4323131

21 March 2017

FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4323131

21 March 2017

A deletion in the VLDLR gene in Eurasier dogs with cerebellar hypoplasia resembling a Dandy-Walker-like malformation (DWLM).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4323131

28 September 2017

Magnetic resonance imaging diagnosis of Dandy-Walker-like syndrome in a wire-haired miniature dachshund

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4323131

28 September 2017

Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4323131

28 September 2017

A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4323131

28 September 2017

Long-term outcome of antenatally diagnosed agenesis of corpus callosum and cerebellar malformations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4323131

28 September 2017

Developmental disorders of the midbrain and hindbrain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4323131

28 September 2017

The fetal cerebellum: development and common malformations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4323131

28 September 2017

Hydrocephalus in Dandy-Walker malformation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4323131

28 September 2017

Posterior fossa malformations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4323131

28 September 2017

Multiple developmental programs are altered by loss of Zic1 and Zic4 to cause Dandy-Walker malformation cerebellar pathogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4323131

28 September 2017

A developmental and genetic classification for midbrain-hindbrain malformations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4323131

28 September 2017

Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4323131

28 September 2017

The fetal cerebellum. Pitfalls in diagnosis and management

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4323131

28 September 2017

Neurodevelopmental outcomes in children with cerebellar malformations: a systematic review

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4323131

28 September 2017

The Dandy-Walker variant: a case series of 24 pediatric patients and evaluation of associated anomalies, incidence of hydrocephalus, and developmental outcomes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4323131

28 September 2017

Cerebellar vermian hypoplasia in a Cocker Spaniel

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4323131

28 September 2017

Dandy-Walker syndrome and chromosomal abnormalities

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4323131

28 September 2017

Human malformations of the midbrain and hindbrain: review and proposed classification scheme

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4323131

28 September 2017

Polymerase chain reaction (PCR) amplification of parvoviral DNA from the brains of dogs and cats with cerebellar hypoplasia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4323131

28 September 2017

Dandy-Walker malformation: prenatal diagnosis and prognosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4323131

28 September 2017

Malformations of the posterior fossa: current perspectives

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4323131

28 September 2017

Partial deletions of the long arm of chromosome 13 associated with holoprosencephaly and the Dandy-Walker malformation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4323131

28 September 2017

Analysis and classification of cerebellar malformations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4323131

28 September 2017

Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4323131

28 September 2017

Dandy-Walker malformation: etiologic heterogeneity and empiric recurrence risks

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4323131

28 September 2017

Neuro-ophthalmologic findings in humans with quadrupedal locomotion.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4323131

31 May 2018

Dandy-Walker malformation: analysis of 19 cases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4323131

31 May 2018

Hereditary quadriplegia and amblyopia in the Irish Setter

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4323131

31 May 2018

Cerebellar vermian hypoplasia in dogs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4323131

31 May 2018

Revised classification of posterior fossa cysts and cystlike malformations based on the results of multiplanar MR imaging.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4323131

31 May 2018

Dandy-Walker variant malformation, spastic paraplegia, and mental retardation in two sibs.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4323131

31 May 2018

The Dandy-Walker syndrome or the so-called atresia of the foramen Magendie.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0117670

21 January 2018

Use of magnetic resonance imaging for morphometric analysis of the caudal cranial fossa in Cavalier King Charles Spaniels.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0117670

21 January 2018

Autosomal recessive cerebellar hypoplasia in the Hutterite population.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0117670

21 January 2018

Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0117670

21 January 2018

Proof of partial imbalances 6q and 11q due to maternal complex balanced translocation analyzed by microdissection of multicolor labeled chromosomes (FISH-MD) in a patient with Dandy-Walker variant

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0117670

21 January 2018

Patterns of cognitive and fine motor deficits in a case of Dandy-Walker continuum.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0117670

21 January 2018

Neuropathological analysis of an asymptomatic adult case with Dandy-Walker variant.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0117670

21 January 2018

Isolated Dandy-Walker malformation associated with brain stem dysgenesis in male sibs.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0117670

21 January 2018

De novo interstitial deletion of 3q22.3-q25.2 encompassing FOXL2, ATR, ZIC1, and ZIC4 in a patient with blepharophimosis/ptosis/epicanthus inversus syndrome, Dandy-Walker malformation, and global developmental delay.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0117670

21 January 2018

FGF17, a gene involved in cerebellar development, is downregulated in a patient with Dandy-Walker malformation carrying a de novo 8p deletion.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0117670

21 January 2018

X-linked inheritance of Dandy-Walker variant

1 reference

https://pubmed.ncbi.nlm.nih.gov/25668516

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ultrasonographic appearance of Dandy Walker-like Syndrome in a Boston Terrier

1 reference

https://pubmed.ncbi.nlm.nih.gov/25668516

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Imaging diagnosis-cerebellar vermis hypoplasia in a Miniature Schnauzer

1 reference

https://pubmed.ncbi.nlm.nih.gov/25668516

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Naturally occurring parvovirus-associated feline hypogranular cerebellar hypoplasia-- A comparison to experimentally-induced lesions using immunohistology

1 reference

https://pubmed.ncbi.nlm.nih.gov/25668516

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Imaging diagnosis--Dandy Walker malformation

1 reference

https://pubmed.ncbi.nlm.nih.gov/25668516

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Description of the smallest critical region for Dandy-Walker malformation in chromosome 13 in a girl with a cryptic deletion related to t(6;13)(q23;q32)

1 reference

https://pubmed.ncbi.nlm.nih.gov/25668516

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cerebellar malformation in two dogs and a sheep

1 reference

https://pubmed.ncbi.nlm.nih.gov/25668516

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1371/JOURNAL.PONE.0117670

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2015PLoSO..1017670B

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PubMed publication ID

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