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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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 is …
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scholarly articleQ13442814

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P819ADS bibcode2015PLoSO..1017670B
P356DOI10.1371/JOURNAL.PONE.0117670
P932PMC publication ID4323131
P698PubMed publication ID25668516
P5875ResearchGate publication ID272192484

P50authorKaspar MatiasekQ37829152
Andrea FischerQ42880098
P2093author name stringAlexander Lauda
Andreas Bruehschwein
Filipa Bernardino
Heinz A Schoon
Kai Rentmeister
Lara A Matiasek
Martin J Schmidt
P2860cites workMutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humansQ24651459
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Prenatal diagnosis of 'isolated' Dandy-Walker malformation: imaging findings and prenatal counsellingQ28261902
Cerebellar hypoplasia, with quadrupedal locomotion, caused by mutations in the very low-density lipoprotein receptor geneQ28273868
Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformationQ28279766
FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformationQ28941244
Malformations of the posterior fossa: current perspectivesQ30761091
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A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotionQ34413832
Multiple developmental programs are altered by loss of Zic1 and Zic4 to cause Dandy-Walker malformation cerebellar pathogenesisQ34592548
The Dandy-Walker variant: a case series of 24 pediatric patients and evaluation of associated anomalies, incidence of hydrocephalus, and developmental outcomes.Q34817906
Neurodevelopmental outcomes in children with cerebellar malformations: a systematic reviewQ34936611
The Dandy-Walker syndrome or the so-called atresia of the foramen Magendie.Q51345015
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.Q51805481
Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy.Q51857474
Autosomal recessive cerebellar hypoplasia in the Hutterite population.Q51925840
Revised classification of posterior fossa cysts and cystlike malformations based on the results of multiplanar MR imaging.Q52243940
FGF17, a gene involved in cerebellar development, is downregulated in a patient with Dandy-Walker malformation carrying a de novo 8p deletion.Q52609939
Cerebellar malformation in two dogs and a sheepQ70849867
X-linked inheritance of Dandy-Walker variantQ77582487
Imaging diagnosis-cerebellar vermis hypoplasia in a Miniature SchnauzerQ80037625
Naturally occurring parvovirus-associated feline hypogranular cerebellar hypoplasia-- A comparison to experimentally-induced lesions using immunohistologyQ80039625
Ultrasonographic appearance of Dandy Walker-like Syndrome in a Boston TerrierQ80575713
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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)Q84656406
A deletion in the VLDLR gene in Eurasier dogs with cerebellar hypoplasia resembling a Dandy-Walker-like malformation (DWLM).Q35558738
Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletionsQ36885141
Dandy-Walker syndrome and chromosomal abnormalitiesQ36995589
A developmental and genetic classification for midbrain-hindbrain malformationsQ37472322
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Partial deletions of the long arm of chromosome 13 associated with holoprosencephaly and the Dandy-Walker malformationQ40627782
Cerebellar vermian hypoplasia in dogsQ48324183
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 variantQ48428602
Dandy-Walker malformation: analysis of 19 casesQ48432711
Neuro-ophthalmologic findings in humans with quadrupedal locomotionQ48477304
Neuropathological analysis of an asymptomatic adult case with Dandy-Walker variantQ48566467
Isolated Dandy-Walker malformation associated with brain stem dysgenesis in male sibsQ48604926
Hereditary quadriplegia and amblyopia in the Irish SetterQ48652287
Patterns of cognitive and fine motor deficits in a case of Dandy-Walker continuumQ48715098
Use of magnetic resonance imaging for morphometric analysis of the caudal cranial fossa in Cavalier King Charles SpanielsQ48719243
Dandy-Walker variant malformation, spastic paraplegia, and mental retardation in two sibsQ48906427
P275copyright licenseCreative Commons Attribution 4.0 InternationalQ20007257
P6216copyright statuscopyrightedQ50423863
P433issue2
P407language of work or nameEnglishQ1860
P921main subjectcerebellumQ130983
cerebellar hypoplasiaQ2214869
P304page(s)e0117670
P577publication date2015-01-01
P1433published inPLOS OneQ564954
P1476titleInferior cerebellar hypoplasia resembling a Dandy-Walker-like malformation in purebred Eurasier dogs with familial non-progressive ataxia: a retrospective and prospective clinical cohort study
P478volume10

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cites work (P2860)
Q35558738A deletion in the VLDLR gene in Eurasier dogs with cerebellar hypoplasia resembling a Dandy-Walker-like malformation (DWLM).
Q49344918Caudal Fossa Ratio in Normal Dogs and Eurasier Dogs with VLDLR-Associated Genetic Cerebellar Hypoplasia
Q26751100Diagnostic techniques to detect the epileptogenic zone: Pathophysiological and presurgical analysis of epilepsy in dogs and cats
Q98771942Transient Postural Vestibulo-Cerebellar Syndrome in Three Dogs With Presumed Cerebellar Hypoplasia

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