Spinocerebellar ataxia, autosomal recessive type 23 (SCAR23) with compound TDP2 variants: clinical, molecular, and quantitative follow-up.

Deciphering Spastic Ataxia: Clinical and Genetic Profiles.

VPS13D-Related Disorders: Description of New Variant and Phenotypic Spectrum Based on Age of Onset.

WDR81 Mutation in Two Siblings: A Case Report and Review of Literature.

Identification of two novel pathogenic mutations in the SKOR2 gene linked to cerebellar hypoplasia and a broad spectrum of neurodevelopmental delay in two Iranian families.

RAB23 loss-of-function mutation causes context-dependent ciliopathy in Carpenter syndrome.

Natural history of SPTBN4-related neurodevelopmental disorder with hypotonia, neuropathy, and deafness.

Prenatal and postnatal findings in cerebellofaciodental syndrome: a rare genetic disorder.

Functional Assessment of the Subjects with Unertan Syndrome: 10 Years Follow-Up Study.

French guidelines for the diagnosis and management of pure hereditary spastic paraplegia.

A case series of joubert syndrome evaluated with whole exome sequencing and the utility of optical genome mapping in the diagnosis.

Phenotypic Spectrum of KATNIP-Associated Joubert Syndrome: Possible Association with Esophageal Atresia and Review of the Literature.

Expanding the spectrum of ATP8A2 mutations: a new splicing variant and systematic review of CAMRQ4 syndrome.

Natural history of patients with autosomal dominant WFS1 pathogenic variants associated with sensorineural hearing loss and optic atrophy.

Movement Disorders in Hereditary Cerebellar Ataxia.

Poretti-Boltshauser Syndrome: A Report of Two Cases From Bahrain With a Novel Mutation and Literature Review.

Phenotypic variability in two siblings with Poretti-Boltshauser syndrome.

Biallelic variants in GTF3C3 result in an autosomal recessive disorder with intellectual disability.

PHARC syndrome: an overview.

Clinical and Molecular Spectrum of Autosomal Recessive CA8-Related Cerebellar Ataxia.

Compound Heterozygosity in Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome Type 4.

Panoramic variation analysis of a family with neurodevelopmental disorders caused by biallelic loss-of-function variants in TMEM141, DDHD2, and LHFPL5.

Clinical, biochemical, and molecular characterization of mucopolysaccharidosis type III in 34 Egyptian patients.

Characterization of Vps13b-mutant mice reveals neuroanatomical and behavioral phenotypes with females less affected.

Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.

Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS-related rare disease traits.

The epilepsy phenotype of ST3GAL3-related developmental and epileptic encephalopathy.

A Biallelic Truncating Variant in the TPR Domain of GEMIN5 Associated with Intellectual Disability and Cerebral Atrophy.

Joubert syndrome: Molecular basis and treatment.

Suspected Autosomal Recessive Polycystic Kidney Disease but Cerebellar Vermis Hypoplasia, Oligophrenia Ataxia, Coloboma, and Hepatic Fibrosis (COACH) Syndrome in Retrospect, A Delayed Diagnosis Aided by Genotyping and Reverse Phenotyping: A Case Report and A Review of the Literature.

Phenotypic spectrum of patients with Poretti-Boltshauser syndrome: Patient report of antenatal ventriculomegaly and esophageal atresia.

First case of desmosterolosis diagnosed by prenatal whole exome sequencing.

A Case of Gillespie Syndrome With Atypical Presentation.

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay due to Novel Mutations in the SACS Gene.

Radiological Findings of Woodhouse-Sakati Syndrome: Cases Reported From Saudi Arabia.

Expanding the pre- and postnatal phenotype of WASHC5 and CCDC22 -related Ritscher-Schinzel syndromes.

Expression Analyses of Polo-Like Kinase 4, a Gene Product Responsible for Autosomal Recessive Microcephaly and Seckel Syndrome, during Mouse Brain Development.

Adult Presentation of Joubert Syndrome Presenting With Dysphagia: A Case Report.

Molecular Characterization of Portuguese Patients with Hereditary Cerebellar Ataxia.

Expression Analyses of Cep152, a Responsible Gene Product for Autosomal Recessive Primary Microcephaly, during Mouse Brain Development.

Biallelic TERT variant leads to Hoyeraal-Hreidarsson syndrome with additional dyskeratosis congenita findings.

Antenatal presentation and supratentorial brain abnormalities in a child with Poretti-Boltshauser syndrome.

Progressive bilateral nuclear cataracts associated with cerebellar-facial-dental syndrome: case report, literature review, and identification of a new genetic variant.

Spastic paraplegia type 46: novel and recurrent GBA2 gene variants in a compound heterozygous Italian patient with spastic ataxia phenotype.

A case report of Joubert syndrome with renal involvement and seizures in a neonate.

Cerebellofaciodental syndrome in an adult patient: Expanding the phenotypic and natural history characteristics.

Treatment of dental caries in a patient with Joubert syndrome without the use of sedatives: A case study.

Knobloch Syndrome in Siblings with Posterior Fossa Malformations Along with Cerebellar Midline Cleft Abnormality Caused by Biallelic COL18A1 Mutation: Case-Based Review.

A novel PNPLA6 mutation in a Turkish family with intractable Holmes tremor and spastic ataxia.

Two Compound Heterozygous Variants in SNX14 Cause Stereotypies and Dystonia in Autosomal Recessive Spinocerebellar Ataxia 20.

Identification of a novel mutation in ATP13A2 associated with a complicated form of hereditary spastic paraplegia.

Chudley-McCullough Syndrome: A Recognizable Clinical Entity Characterized by Deafness and Typical Brain Malformations.

Whole exome sequencing identified a novel missense alteration in CC2D2A causing Joubert syndrome 9 in a Pakhtun family.

PPP1R21-related syndromic intellectual disability: Report of an adult patient and review.

The Phenotypic Spectrum of PNKP-Associated Disease and the Absence of Immunodeficiency and Cancer Predisposition in a Dutch Cohort.

Expanding the phenotype of cerebellar-facial-dental syndrome: Two siblings with a novel variant in BRF1.

Novel homozygous variant of carbonic anhydrase 8 gene expanding the phenotype of cerebellar ataxia, mental retardation, and disequilibrium syndrome subtype 3.

Leukoencephalopathy in Al-Raqad syndrome: Expanding the clinical and neuroimaging features caused by a biallelic novel missense variant in DCPS.

Patients with Lately Diagnosed Cerebrotendinous Xanthomatosis.

Homozygous variants in AMPD2 and COL11A1 lead to a complex phenotype of pontocerebellar hypoplasia type 9 and Stickler syndrome type 2.

Long-term follow-up until early adulthood in autosomal dominant, complex SPG30 with a novel KIF1A variant: a case report.

The RNA Exosome and Human Disease.

The molecular genetics of Joubert syndrome and related ciliopathies: The challenges of genetic and phenotypic heterogeneity.

Expanding the Clinical Spectrum of LONP1-Related Mitochondrial Cytopathy.

Just Expect It: Compound Heterozygous Variants of POMT1 in a Consanguineous Family-The Role of Next Generation Sequencing in Neuromuscular Disorders.

A novel truncating variant p.(Arg297*) in the GRM1 gene causing autosomal-recessive cerebellar ataxia with juvenile-onset.

Homozygosity mapping and whole exome sequencing reveal a novel ERCC8 mutation in a Chinese consanguineous family with unique cerebellar ataxia.

The novel de novo mutation of KIF1A gene as the cause for Spastic paraplegia 30 in a Japanese case.

GPR126: A novel candidate gene implicated in autosomal recessive intellectual disability.

MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome).

Exome Sequencing Identifies a Novel Sorting Nexin 14 Gene Mutation Causing Cerebellar Atrophy and Intellectual Disability.

Nystagmus And Beyond: A Rare Ocular Motility Disorder.

Biochemical Characterization of the GBA2 c.1780G>C Missense Mutation in Lymphoblastoid Cells from Patients with Spastic Ataxia.

Mutations in the Neuroblastoma Amplified Sequence gene in a family affected by Acrofrontofacionasal Dysostosis type 1.

De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene.

A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome.

Cerebellar cognitive affective syndrome: insights from Joubert syndrome.

Further Delineation of the Clinical Phenotype of Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome Type 4.

Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function.

Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1.

Homozygous GRID2 missense mutation predicts a shift in the D-serine binding domain of GluD2 in a case with generalized brain atrophy and unusual clinical features.

Congenital Disorders of Autophagy: What a Pediatric Neurologist Should Know.

Missense mutation in the ITPR1 gene presenting with ataxic cerebral palsy: Description of an affected family and literature review.

Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalities.

Cerebellar hypoplasia with endosteal sclerosis is a POLR3-related disorder.

Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.

Variants in CPLX1 in two families with autosomal-recessive severe infantile myoclonic epilepsy and ID.

Behavioral and neuroanatomical analyses in a genetic mouse model of 2q13 duplication.

SLC30A9 mutation affecting intracellular zinc homeostasis causes a novel cerebro-renal syndrome.

A novel mutation in the proteolytic domain of LONP1 causes atypical CODAS syndrome.

Orocraniofacial findings of a Pediatric Patient with Joubert Syndrome.

New diagnosis of atypical ataxia-telangiectasia in a 17-year-old boy with T-cell acute lymphoblastic leukemia and a novel ATM mutation.

WDR73 missense mutation causes infantile onset intellectual disability and cerebellar hypoplasia in a consanguineous family.

Novel CC2D2A compound heterozygous mutations cause Joubert syndrome.

Diagnosis of Joubert syndrome via ultrasonography.

Homozygous KCNMA1 mutation as a cause of cerebellar atrophy, developmental delay and seizures.

Genome sequencing reveals a splice donor site mutation in the SNX14 gene associated with a novel cerebellar cortical degeneration in the Hungarian Vizsla dog breed.

Huppke-Brendel syndrome in a seven months old boy with a novel 2-bp deletion in SLC33A1.

Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxia.

[Autosomal recessive spinocerebellar ataxias in Japan].

Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples.

Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesis.

Microcephaly, dysmorphic features, corneal dystrophy, hairy nipples, underdeveloped labioscrotal folds, and small cerebellum in four patients.

Putative digenic inheritance of heterozygous RP1L1 and C2orf71 null mutations in syndromic retinal dystrophy.

Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum.

Nystagmus in a newborn: a manifestation of Joubert syndrome in the neonatal period.

Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism.

Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8.

Orofacial manifestations and dental considerations in association with Varadi-Papp syndrome: report of a rare case.

A homozygous mutation of VWA3B causes cerebellar ataxia with intellectual disability.

A nonsense variant in HERC1 is associated with intellectual disability, megalencephaly, thick corpus callosum and cerebellar atrophy.

WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease.

Mutations in FLVCR2 associated with Fowler syndrome and survival beyond infancy.

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.

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

A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A.

BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies.