Midbrain and hindbrain malformations: advances in clinical diagnosis, imaging, and genetics
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[1] W. Dandy,et al. AN EXPERIMENTAL, CLINICAL AND PATHOLOGICAL STUDY: Part 1.—Experimental Studies , 1914 .
[2] Steven J. M. Jones,et al. GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndrome. , 2012, American journal of human genetics.
[3] A. Jana,et al. Joubert syndrome. , 2020, Indian pediatrics.
[4] H. Hoyme,et al. Athabascan brainstem dysgenesis syndrome , 2003, American journal of medical genetics. Part A.
[5] J. Schmahmann,et al. Cerebellar Disorders In Children , 2012 .
[6] A. Chudley,et al. Bilateral sensorineural deafness and hydrocephalus due to foramen of Monro obstruction in sibs: a newly described autosomal recessive disorder. , 1997, American journal of medical genetics.
[7] M. Capecchi,et al. Developmental defects of the ear, cranial nerves and hindbrain resulting from targeted disruption of the mouse homeobox geneHox-#150;1.6 , 1992, Nature.
[8] T. Huisman,et al. Macrocerebellum: Significance and Pathogenic Considerations , 2012, The Cerebellum.
[9] C. Fallet-Bianco,et al. Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects. , 2010, Human molecular genetics.
[10] M. Koenig,et al. The autosomal recessive cerebellar ataxias. , 2012, The New England journal of medicine.
[11] A. Represa,et al. Mutations in the β-tubulin gene TUBB2B result in asymmetrical polymicrogyria , 2009, Nature Genetics.
[12] I. Glass,et al. Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity. , 2012, Brain : a journal of neurology.
[13] Madeline A. Lancaster,et al. Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome , 2011, Nature Medicine.
[14] J. Gomori,et al. Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia. , 2007, American journal of human genetics.
[15] A. Barkovich,et al. Neurodevelopmental Abnormalities in Children With PHACE Syndrome , 2013, Journal of child neurology.
[16] S. Gabriel,et al. De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly , 2012, Nature Genetics.
[17] M. Zaki,et al. Role of MR Imaging in Prenatal Diagnosis of Pregnancies at Risk for Joubert Syndrome and Related Cerebellar Disorders , 2010, American Journal of Neuroradiology.
[18] J. Hirsch,et al. The Dandy-Walker malformation. A review of 40 cases. , 1984, Journal of neurosurgery.
[19] A. Hattersley,et al. Mutations in PTF1A cause pancreatic and cerebellar agenesis , 2004, Nature Genetics.
[20] X. Piao,et al. Disease-Associated Mutations Prevent GPR56-Collagen III Interaction , 2012, PloS one.
[21] R L Sidman,et al. Histogenesis of cortical layers in human cerebellum, particularly the lamina dissecans , 1970, The Journal of comparative neurology.
[22] N. Philip,et al. Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia , 2003, Journal of medical genetics.
[23] J. Shendure,et al. De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes , 2012, Nature Genetics.
[24] William B Dobyns,et al. A developmental and genetic classification for midbrain-hindbrain malformations. , 2009, Brain : a journal of neurology.
[25] Jamie K Teer,et al. A mosaic activating mutation in AKT1 associated with the Proteus syndrome. , 2011, The New England journal of medicine.
[26] F. Baas,et al. Pontine tegmental cap dysplasia: a novel brain malformation with a defect in axonal guidance. , 2007, Brain : a journal of neurology.
[27] W. Dandy,et al. INTERNAL HYDROCEPHALUS: An Experimental, Clinical and Pathological Study , 1964 .
[28] M. King,et al. Spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation in the VRK1 gene. , 2009, American journal of human genetics.
[29] I. Glass,et al. Beyond Gómez‐López‐Hernández syndrome: Recurring phenotypic themes in rhombencephalosynapsis , 2012, American journal of medical genetics. Part A.
[30] A. Barkovich,et al. Midbrain–hindbrain involvement in lissencephalies , 2009, Neurology.
[31] CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development , 2012, Nature Genetics.
[32] E. Pardon,et al. Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13 in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome) , 1997, Nature Genetics.
[33] S. Schulz,et al. Selective targeting of somatostatin receptor 3 to neuronal cilia , 1999, Neuroscience.
[34] C. St. Hilaire,et al. Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family. , 2002, American journal of human genetics.
[35] C. Limperopoulos,et al. Spectrum of neurodevelopmental disabilities in children with cerebellar malformations , 2011, Developmental medicine and child neurology.
[36] P. Grant,et al. An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation. , 2012, Human molecular genetics.
[37] E. Bertini,et al. Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia , 2005, Neurology.
[38] P. Mullaney,et al. Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2 , 2001, Nature Genetics.
[39] Susan C. Brown,et al. Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. , 2007, Brain : a journal of neurology.
[40] Maria K. Lehtinen,et al. Somatic Activation of AKT3 Causes Hemispheric Developmental Brain Malformations , 2012, Neuron.
[41] W. Dobyns,et al. Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation , 2007, American journal of medical genetics. Part A.
[42] F. Baas,et al. Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia. , 2011, Brain : a journal of neurology.
[43] C. E. Benda. The Dandy-Walker syndrome or the so-called atresia of the foramen Magendie. , 1954, Journal of neuropathology and experimental neurology.
[44] D. Bonthron,et al. Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia. , 2009, American journal of human genetics.
[45] A. Long,et al. Outcome of fetal cerebral posterior fossa anomalies , 2006, Prenatal diagnosis.
[46] M. Mizuguchi,et al. Altered glycosylation of α-dystroglycan in neurons of Fukuyama congenital muscular dystrophy brains , 2006, Brain Research.
[47] H. Zoghbi,et al. Math1 is essential for genesis of cerebellar granule neurons , 1997, Nature.
[48] M. Ogawa,et al. Migration, early axonogenesis, and Reelin-dependent layer-forming behavior of early/posterior-born Purkinje cells in the developing mouse lateral cerebellum , 2010, Neural Development.
[49] J. García-Verdugo,et al. A Transition Zone Complex Regulates Mammalian Ciliogenesis and Ciliary Membrane Composition , 2011, Nature Genetics.
[50] H. Sarnat. Central Nervous System, Malformations , 2003 .
[51] T. Curran,et al. A protein related to extracellular matrix proteins deleted in the mouse mutant reeler , 1995, Nature.
[52] T. Neuhann,et al. Pontine tegmental cap dysplasia: the severe end of the clinical spectrum. , 2009, Neuropediatrics.
[53] E. Engle,et al. 110th ENMC International Workshop: The congenital cranial dysinnervation disorders (CCDDs) Naarden, The Netherlands, 25–27 October, 2002 , 2003, Neuromuscular Disorders.
[54] A. Barkovich,et al. A developmental classification of malformations of the brainstem , 2007, Annals of neurology.
[55] T. Bird,et al. Dandy‐Walker malformation: etiologic heterogeneity and empiric recurrence risks , 1985, Clinical genetics.
[56] J. Hewitt. Abnormal glycosylation of dystroglycan in human genetic disease. , 2009, Biochimica et biophysica acta.
[57] D. Mitra,et al. TUBA1A mutation-associated lissencephaly: case report and review of the literature. , 2012, Pediatric neurology.
[58] F. Ruissen,et al. TSEN54 mutations cause pontocerebellar hypoplasia type 5 , 2011, European Journal of Human Genetics.
[59] Alexander G Bassuk,et al. FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation , 2009, Nature Genetics.
[60] Reiko Nishihara,et al. Aspirin use, tumor PIK3CA mutation, and colorectal-cancer survival. , 2012, The New England journal of medicine.
[61] D. Geschwind,et al. Mutations in a Human ROBO Gene Disrupt Hindbrain Axon Pathway Crossing and Morphogenesis , 2004, Science.
[62] Soma Das,et al. Phenotypic spectrum associated with CASK loss-of-function mutations , 2011, Journal of Medical Genetics.
[63] C. Hess,et al. Consensus Statement on Diagnostic Criteria for PHACE Syndrome , 2009, Pediatrics.
[64] C. Fallet-Bianco,et al. The Fetal Cerebellum , 2011, Journal of child neurology.
[65] J. García-Verdugo,et al. Primary cilia are required for cerebellar development and Shh-dependent expansion of progenitor pool. , 2008, Developmental biology.
[66] E. Valente,et al. Pontine tegmental cap dysplasia: developmental and cognitive outcome in three adolescent patients , 2011, Orphanet journal of rare diseases.
[67] M. Brodsky,et al. Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1) , 2003, Nature Genetics.
[68] J. Graham,et al. Megalencephaly‐capillary malformation (MCAP) and megalencephaly‐polydactyly‐polymicrogyria‐hydrocephalus (MPPH) syndromes: Two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis , 2012, American journal of medical genetics. Part A.
[69] Nicholas Katsanis,et al. The ciliopathies: an emerging class of human genetic disorders. , 2006, Annual review of genomics and human genetics.
[70] H. R. Crollius,et al. Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation , 1998, Nature.
[71] Steve D. M. Brown,et al. Mutations in α-Tubulin Cause Abnormal Neuronal Migration in Mice and Lissencephaly in Humans , 2007, Cell.
[72] E. Mercuri,et al. Brain involvement in muscular dystrophies with defective dystroglycan glycosylation , 2008, Annals of neurology.
[73] K. Kutsche,et al. Pontocerebellar hypoplasia type 2 and TSEN2: review of the literature and two novel mutations. , 2013, European journal of medical genetics.
[74] A. Yachnis. Rhombencephalosynapsis with massive hydrocephalus: case report and pathogenetic considerations , 2002, Acta Neuropathologica.
[75] M. State,et al. Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy , 2010, neurogenetics.
[76] A. Dale,et al. Diencephalic-mesencephalic junction dysplasia: a novel recessive brain malformation. , 2012, Brain : a journal of neurology.
[77] W. Dobyns,et al. Human malformations of the midbrain and hindbrain: review and proposed classification scheme. , 2003, Molecular genetics and metabolism.
[78] C. Walsh,et al. A novel form of pontocerebellar hypoplasia maps to chromosome 7q11-21 , 2003, Neurology.
[79] K. Boycott,et al. VLDLR-Associated Cerebellar Hypoplasia , 2013 .
[80] P. Box. Neurologic features of horizontal gaze palsy and progressive scoliosis with mutations in ROBO3 , 2005 .
[81] O. A. Cabello,et al. Cilia Proteins Control Cerebellar Morphogenesis by Promoting Expansion of the Granule Progenitor Pool , 2007, The Journal of Neuroscience.
[82] Elysa Widjaja,et al. Diffusion tensor imaging of midline posterior fossa malformations , 2006, Pediatric Radiology.
[83] I. Frieden,et al. PHACE Syndrome: The Association of Posterior Fossa Brain Malformations, Hemangiomas, Arterial Anomalies, Coarctation of the Aorta and Cardiac Defects, and Eye Abnormalities , 1996 .
[84] T. Huisman,et al. Joubert Syndrome and Related Disorders: Spectrum of Neuroimaging Findings in 75 Patients , 2011, American Journal of Neuroradiology.
[85] L. Hertz-Pannier,et al. Intellectual prognosis of the Dandy-Walker malformation in children: the importance of vermian lobulation , 2003, Neuroradiology.
[86] G. Chang,et al. Disease-associated GPR56 Mutations Cause Bilateral Frontoparietal Polymicrogyria via Multiple Mechanisms* , 2011, The Journal of Biological Chemistry.
[87] M. Capecchi,et al. Cardiovascular defects in a mouse model of HOXA1 syndrome. , 2012, Human molecular genetics.
[88] S. Christian,et al. Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum , 2008 .
[89] R. Biancheri,et al. The Shrunken, Bright Cerebellum: A Characteristic MRI Finding in Congenital Disorders of Glycosylation Type 1a , 2012, American Journal of Neuroradiology.
[90] Colin Studholme,et al. 3D Morphometric Analysis of Human Fetal Cerebellar Development , 2011, Cerebellum.
[91] M. Waner,et al. PHACES Association: A Neuroradiologic Review of 17 Patients , 2008, American Journal of Neuroradiology.
[92] H. Lidov,et al. Fukutin-related protein is essential for mouse muscle, brain and eye development and mutation recapitulates the wide clinical spectrums of dystroglycanopathies. , 2010, Human molecular genetics.
[93] T. Loenneker,et al. Diffusion Tensor Imaging in Joubert Syndrome , 2007, American Journal of Neuroradiology.
[94] Monique M. Ryan,et al. Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration , 2012, Nature Genetics.
[95] D. Holmes. PI3K pathway inhibitors approach junction , 2011, Nature Reviews Drug Discovery.
[96] R. Hevner,et al. Pontine Tegmental Cap Dysplasia: MR Imaging and Diffusion Tensor Imaging Features of Impaired Axonal Navigation , 2008, American Journal of Neuroradiology.
[97] E. Engle,et al. Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development , 2005, Nature Genetics.
[98] J C Olivo,et al. Two rhombomeres are altered in Hoxa-1 mutant mice. , 1993, Development.
[99] E. Wirrell,et al. Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification. , 2005, American journal of human genetics.
[100] T. Meitinger,et al. Human TUBB3 Mutations Perturb Microtubule Dynamics, Kinesin Interactions, and Axon Guidance , 2010, Cell.
[101] C. Bennett,et al. A Sibship with a Neuronal Migration Defect, Cerebellar Hypoplasia and Congenital Lymphedema , 1993, Neuropediatrics.
[102] Martin W. Breuss,et al. Mutations in the β-Tubulin Gene TUBB5 Cause Microcephaly with Structural Brain Abnormalities , 2012, Cell reports.
[103] D. Prayer,et al. Disruption of cerebellar development: potential complication of extreme prematurity. , 2005, AJNR. American journal of neuroradiology.
[104] Alfonso Baldi,et al. Human CHN1 Mutations Hyperactivate α2-Chimaerin and Cause Duane's Retraction Syndrome , 2008, Science.
[105] T. Crombleholme,et al. Posterior fossa anomalies diagnosed with fetal MRI: Associated anomalies and neurodevelopmental outcomes , 2012, Prenatal diagnosis.
[106] M. Hamon,et al. Localization of 5-HT6 receptors at the plasma membrane of neuronal cilia in the rat brain , 2000, Brain Research.
[107] Ingeborg Krägeloh-Mann,et al. tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia , 2008, Nature Genetics.
[108] F. Causeret,et al. Development of precerebellar nuclei: instructive factors and intracellular mediators in neuronal migration, survival and axon pathfinding , 2005, Brain Research Reviews.
[109] F. Real,et al. Cerebellar GABAergic progenitors adopt an external granule cell-like phenotype in the absence of Ptf1a transcription factor expression , 2007, Proceedings of the National Academy of Sciences.
[110] P. Demaerel. Abnormalities of cerebellar foliation and fissuration: classification, neurogenetics and clinicoradiological correlations , 2002, Neuroradiology.
[111] Brent L Fogel,et al. Clinical features and molecular genetics of autosomal recessive cerebellar ataxias , 2007, The Lancet Neurology.
[112] K. Mikoshiba,et al. Regulation of Purkinje Cell Alignment by Reelin as Revealed with CR-50 Antibody , 1997, The Journal of Neuroscience.
[113] K. Mikoshiba,et al. Reelin Is a Secreted Glycoprotein Recognized by the CR-50 Monoclonal Antibody , 1997, The Journal of Neuroscience.