A CACNA2D2-Related Recessive Form of Cerebellar Abiotrophy in Angus Cattle.

Case Report: Ataxia telangiectasia with severe hemorrhagic cystitis.

To Do Or Not To Do: Therapeutic Hypothermia Treatment For An Infant With HIE And Prenatal Spinal Muscular Atrophy With Congenital Bone Fractures.

Brain morphometry and cognition in late-onset glutaric aciduria type 1: scoping review and novel insights from a case report.

Neuro-Ophthalmic Presentation of Steroid 5a-Reductase Type 3 Congenital Disorder of Glycosylation: A Case of Monozygotic Twins.

Abnormal Newborn Screening Resembling Carnitine Palmitoyltransferase 1a Deficiency in Three Patients With COASY Protein Associated Neurodegeneration.

Variants in MTNAP1 underlie a neurodegenerative disorder by impairing mitochondrial stability.

[Motor neuron diseases from a radiological perspective : Focus on amyotrophic lateral sclerosis].

Five-year disease-modifying therapeutic experience of 102 Chinese paediatric 5q-spinal muscular atrophy: a retrospective analysis.

MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathy.

KCTD7-related progressive myoclonic epilepsy: Clinical and genetic characterization of six Indian patients and review of literature.

Allgrove syndrome with early neurodegeneration in a child: A case report from Syria.

Nasu-Hakola Disease Presenting as Rapidly Progressive Dementia With Seizures: A TREM2 Mutation Case Without Skeletal Involvement.

Clinical and genetic findings of three patients with chorea-acanthocytosis.

Elevated cerebrospinal fluid 2-Hydroxybutyric acid in two siblings with aspartate-glutamate carrier 1 deficiency.

A Novel Exon Duplication in the SACS Gene in Charlevoix-Saguenay Ataxia and a Summary of Polish Cases.

A 10-Year-Old Boy With Ataxia-Telangiectasia: A Rare Case Report From Yemen.

Genetic and Epidemiological Aspects of Louis-Bar Syndrome Transmission: The Impact of Consanguineous Marriages on the Incidence of Hereditary Disorders.

IDEDNIK syndrome: a newly recognized rare genetic disorder caused by AP1S1 and AP1B1 mutations.

From Neonatal Encephalopathy to Adult Survival: Revisiting the Natural History of D-Bifunctional Protein Deficiency in a Multicentre International Case Series.

Systematic Phenotyping and Molecular Analysis of the Woozy Mouse: A Preclinical Model of Cerebellar Ataxia.

Senior-Løken syndrome with IQCB1/NPHP5 mutation in an adult: a case report.

Altered dimerization of certain riboflavin transporter 2 mutants: a possible source of UPR, altered calcium signalling and mitochondrial derangements in RTD2.

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

Recessive variants in mitochondrial Complex I nuclear subunits are an underrated cause of optic atrophy.

Variant Update on ASCC1 : Characterization of the First Homozygous Missense Variant Involved in Prenatal-Onset Spinal Muscular Atrophy With Congenital Bone Fractures 2.

Discordant phenotype caused by TREX1 variant in siblings with Aicardi-Goutières syndrome.

Severe Neurological Sequelae and Radiological Findings in a Lost-to-Follow-Up Case of Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome.

Expanding the clinical and genetic spectrum of GLUL-related developmental and epileptic encephalopathy.

A Novel HERC2 Variant in Two Siblings with Autosomal Recessive Intellectual Developmental Disorder-38 and Cardiomyopathy.

MFSD8-Related CLN7 Disease with Adult-Onset Cerebellar Ataxia: A Five-Patient Case Series.

Pathogenicity of Mediator Complex Subunit 27 (MED27) in a Neurodevelopmental Disorder with Cerebellar Atrophy.

Diabetes and optic atrophy in a young adult: consider Wolfram syndrome.

Unravelling neurodegeneration with cerebral calcifications: Krabbe disease masquerading as Aicardi-Goutieres syndrome.

Parkin, a key player in Parkinson's disease pathogenesis: A review.

Spastic Ataxia Composite (SPAXCOM): A Scale to Evaluate the Progression of Subjects with Spasticity and Ataxia.

Autosomal recessive frameshift variant broadens HECW2-related disease spectrum.

AAV-based gene therapy ameliorates neurological deficits in a mouse model of childhood-onset neurodegeneration with cerebellar atrophy.

FBXO7 Pathogenic Variants in Early-Onset Parkinsonism: Insights from a Neuroimaging Perspective and Review of the Literature.

Ciliopathy: Senior-Løken Syndrome.

Infantile neuroaxonal dystrophy: Molecular mechanisms and pathogenesis of PLA2G6-associated neurodegeneration.

Childhood-Onset Neurodegeneration With Progressive Microcephaly (CONPM) due to a DTYMK Homozygous Pathogenic Variant: Outlining the Phenotype of an Ultra-Rare Disease.

Adolescent late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency manifesting with severe multi-organ failure: a case report.

An Unstable ATG2A Variant Causes a Neurodegenerative Disorder via Impaired Autophagy and Proteotoxic Stress in Brain Atrophy.

Malignant Infantile Osteopetrosis With Neurological and Hematological Complications: A Case Review.

Cerebrotendinous xanthomatosis: A rare neurodegenerative disorder with characteristic imaging findings.

Identification and functional analysis of a novel TBC1D23 pathogenic variant in a Chinese family with pontocerebellar hypoplasia.

Sarcoidosis-like Skin Lesions as the First Manifestation of Ataxia-Telangiectasia.

PHARC (Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract) - A Case Report and Clinical-Focused Literature Review.

Biallelic Loss-of-Function Variant in MINPP1 Causes Pontocerebellar Hypoplasia with Characteristic Severe Neurodevelopmental Disorder.

A Hidden Diagnosis: Neurogenic Bladder Leading to Acute Kidney Failure in Wolfram Syndrome.

Beyond the homozygous paradigm: symptomatic partial biotinidase deficiency in a heterozygous child-first case report from Nepal.

Case Report: a novel homozygous ASNS variant in a Chinese female with severe microcephaly, encephalopathy and epilepsy.

S100B Mitigates Cytoskeletal and Mitochondrial Alterations in a Glial Cell Model of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.

Diagnostic journey and genetic analysis of a novel homozygous CYP2U1 mutation causing autosomal recessive spastic paraplegia type 56 (SPG56) in a consanguineous family.

Neonatal spinal muscular atrophy with brain magnetic resonance imaging hypersignal: a case report.

Perioperative Care of a Child With Molybdenum Cofactor Deficiency.

Identification of a large homozygous RNF216 deletion in a Chinese patient with gordon holmes syndrome.

In utero therapy for spinal muscular atrophy: closer to clinical translation.

Child Neurology: TRAPPC4-Related Neurodevelopmental Disorder.

Compound heterozygosity of a De novo 16q24.1 deletion and missense mutation in COX4I1 leads to developmental regression, intellectual disability, and seizures.

A de novo deletion underlying spinal muscular atrophy: implications for carrier testing and genetic counseling.

Knockout of the fcsk gene in zebrafish causes neurodevelopmental defects.

Severe hyperhomocysteinemia due to MTHFR deficiency caused by a new mutation: A case report and literature review.

EEFSEC deficiency: A selenopathy with early-onset neurodegeneration.

Neuropsychological profile of POLR3A-related spastic ataxia.

Novel PNPLA8 variants associated with primary ovarian insufficiency, tremors, cerebellar ataxia and limb weakness: a case report and literature review.

Novel pathogenic ATM mutation with ataxia-telangiectasia in a Chinese family.

The correlation of intracranial parenchymal calcium score and the severity of neurological clinical presentation in carbonic anhydrase deficiency type 2.

The ataxia-telangiectasia disease protein ATM controls vesicular protein secretion via CHGA and microtubule dynamics via CRMP5.

Intragenic duplication disrupting the reading frame of MFSD8 in Small Swiss Hounds with neuronal ceroid lipofuscinosis.

Perspectives in the investigation of Cockayne syndrome group B neurological disease: the utility of patient-derived brain organoid models.

EAST (Epilepsy, Ataxia, Sensorineural Hearing Loss, and Renal Tubulopathy) Syndrome: A Rare Association Between Brain, Ear, and Kidney.

Recent Advance in Disease Modifying Therapies for Spinal Muscular Atrophy.

De Novo GRID2 Variant as a Cause of Ataxia with Oculomotor Apraxia and Alpha-Fetoprotein Elevation.

Obsessive-compulsive disorder as a first manifestation of Ataxia with Oculomotor Apraxia type 2 due to a novel mutation of SETX gene.

Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome.

Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders.

[Rare forms of autosomal recessive spinocerebellar ataxia associated with mutations in the ANO10 (ATX-ANO10) and SYNE1 (ATX-SYNE1) genes].

Identification of biallelic mutations in MCM3AP and comprehensive literature analysis.

Wolfram Syndrome 1: A Neuropsychiatric Perspective on a Rare Disease.

Mevalonic Aciduria in a Pediatric Patient: A Case Report and Literature Review of Neuroimaging Findings.

Novel fetal phenotype of TAF8 deficiency.

Homozygous Paternally Inherited ASPA Variant in a Patient with Canavan Disease.

Wolfram Syndrome Type I Case Report and Review-Focus on Early Diagnosis and Genetic Variants.

Clinical, genetic, and neuroimaging profiles of autosomal recessive spinocerebellar ataxia type 4 caused by novel VPS13D variants in Chinese.

Clinical and genetic variability among Bulgarian patients with autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Human organoid model of pontocerebellar hypoplasia 2a recapitulates brain region-specific size differences.

Long-term impact of nusinersen on motor and electrophysiological outcomes in adolescent and adult spinal muscular atrophy: insights from a multicenter retrospective study.

Adult-Onset Neuropsychiatric Symptoms as the Presenting Feature of Xeroderma Pigmentosum Group G: A Report of a Rare Case.

Sequential Presentation of Obsessive-Compulsive Disorder and Narcolepsy in a 10-Year-Old Girl With Wolfram Syndrome 1.

Unexpected complexity in the molecular diagnosis of spastic paraplegia 11.

Case report: Misdiagnosed orolingual dyskinesia as a consequence of seizures in a chorea-acanthocytosis patient with a novel VPS13A variation from a family with consanguineous marriage.

An MRI evaluation of white matter involvement in paradigmatic forms of spastic ataxia: results from the multi-center PROSPAX study.

Cognitive Decline and Other Late-Stage Neurologic Complications in Cockayne Syndrome.

FADD gene pathogenic variants causing recurrent febrile infection-related epilepsy syndrome: Case report and literature review.

Emerging variants, unique phenotypes, and transcriptomic signatures: an integrated study of COASY-associated diseases.

Altered mitochondrial function in fibroblast cell lines derived from disease carriers of spinal muscular atrophy.

Clinical and neurogenetic characterisation of autosomal recessive RBL2-associated progressive neurodevelopmental disorder.

Genetic and clinical profile of 15 Chinese families with GDAP1-related Charcot-Marie-Tooth disease and identification of H256R as a frequent mutation.

Adolescent-onset epilepsy and deterioration associated with CAD deficiency: A case report.

A rare inherited homozygous missense variant in PLA2G6 influences susceptibility to infantile neuroaxonal dystrophy: a case report.

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

Ataxia telangiectasia: a rare case report from Nepal.

Neurodevelopmental disorder in a patient with HMBS and SCN3A variants-A possibly blended phenotype further delineating autosomal recessive HMBS related disease.

Incidental Finding of MEGDEL Syndrome at a Tertiary Care Center in Saudi Arabia.

A novel variant in ASNS gene responsible for syndromic intellectual disability and microcephaly: Case report and literature review.

RTN2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity.

No significant sex differences in incidence or phenotype for the SMNΔ7 mouse model of spinal muscular atrophy.

Expanding the genetic and phenotypic spectrum of TRAPPC9 and MID2-related neurodevelopmental disabilities: report of two novel mutations, 3D-modelling, and molecular docking studies.

Spinal Muscular Atrophy With Severe Hyperlordosis: A Case Report.

A case report of molybdenum cofactor deficiency type A: the first case diagnosed in Syria.

Expanded clinical phenotype and untargeted metabolomics analysis in RARS2-related mitochondrial disorder: a case report.

4-aminopyridine improves evoked potentials and ambulation in the taiep rat: A model of hypomyelination with atrophy of basal ganglia and cerebellum.

Long-term follow-up of an attenuated presentation of NAXE-related disease, a potentially actionable neurometabolic disease: a case report.

Promoting expression in gene therapy: more is not always better.

Late Presentation of β-Thalassemia Major Patient With Left Hemiparesis: A Case Report.

Hereditary spastic paraplegia type 35 in a Turkish girl with fatty acid hydroxylase-associated neurodegeneration.

Biallelic variants in HTRA2 cause 3-methylglutaconic aciduria mitochondrial disorder: case report and literature review.

Neuroimaging features in Wolfram syndrome type 1.

Spinal muscular atrophy in Ghanaian children confirmed by molecular genetic testing: a case series.

Ophthalmic manifestations of biotinidase deficiency: report of a case and review of literature.

Behavioral Management of Respiratory/Phonatory Dysfunction for Dysarthria Associated With Neurodegenerative Disease: A Systematic Review.

[Congenital Myasthenic Syndromes].

Clinical, Imaging, Genetic, and Disease Course Characteristics in Patients With GM2 Gangliosidosis: Beyond Age of Onset.

Long term peripheral AAV9-SMN gene therapy promotes survival in a mouse model of spinal muscular atrophy.

Novel mutation in RPGRIP1L gene causing Joubert syndrome: A case report.

Clinical and genetic analysis of infants with pontocerebellar hypoplasia type 6 caused by RARS2 variations.

Wolfram Syndrome: A Curious Case of Repetitive Loss of Consciousness.

Novel LAGE3 Pathogenic Variants Combined with TRPC6 and NUP160 Variants in Galloway-Mowat Syndrome: A Case Report.

Widening the clinical, radiological and genetic spectrum of autosomal recessive ataxia of Charlevoix-Saguenay in Indian patients.

The identification of a novel mutation (p.I223fs) in WRN associated with Werner syndrome.

Severe Neurodevelopmental Disorder in Autosomal Recessive Spinocerebellar Ataxia 13 (SCAR13) Caused by Two Novel Frameshift Variants in GRM1.

In Cerebellar Atrophy of 12-Month-Old ATM-Null Mice, Transcriptome Upregulations Concern Most Neurotransmission and Neuropeptide Pathways, While Downregulations Affect Prominently Itpr1, Usp2 and Non-Coding RNA.

Homozygous MFN2 variants causing severe antenatal encephalopathy with clumped mitochondria.

Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies.

Novel heterozygous VPS13A pathogenic variants in chorea-neuroacanthocytosis: a case report.

Sjogren-Larsson syndrome brain volumetric reductions demonstrated with an automated software.

Genomics of Wolfram Syndrome 1 (WFS1).

Late-onset Tay-Sachs disease presenting with a neuromuscular phenotype-a case series.

Novel CWF19L1 mutations in patients with spinocerebellar ataxia, autosomal recessive 17.

Preliminary insights into RNA in CSF of pediatric SMA patients after 6 months of nusinersen.

Severe KIDAR syndrome caused by deletion in the AP1B1 gene: Report of a teenage patient and systematic review of the literature.

USH2A variants causing retinitis pigmentosa or Usher syndrome provoke differential retinal phenotypes in disease-specific organoids.

Autosomal Dominant MPAN: Mosaicism Expands the Clinical Spectrum to Atypical Late-Onset Phenotypes.

Expanding the allelic spectrum of ELOVL4-related autosomal recessive neuro-ichthyosis.

Case report: Birk-Landau-Perez syndrome linked to the SLC30A9 gene-identification of additional cases and expansion of the phenotypic spectrum.

Molecular Biomarkers for the Diagnosis, Prognosis, and Pharmacodynamics of Spinal Muscular Atrophy.

Progressive myoclonic epilepsy type 1 (EPM1) patients present with abnormal 1H MRS brain metabolic profiles associated with cognitive function.

Persistent basal ganglia involvement in aminoacylase-1 deficiency: expanding imaging findings and review of literature.

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

Neuro-Ophthalmologic Variability in Presentation of Genetically Confirmed Wolfram Syndrome: A Case Series and Review.

Compound heterozygous variants in MAPK8IP3 were detected in severe congenital hypotonia mimicking lethal spinal muscular atrophy.

MRI characteristics due to gene mutations in a Chinese pedigree with Lafora disease.

[MOH SCREENING FOR TBCD IN COCHIN JEWS: COLLABORATION BETWEEN MEDICAL, RESEARCH AND COMMUNITY MEMBERS IN ACHIEVING PUBLIC HEALTH GOALS].

Expanding the Spectrum of Stress-Induced Childhood-Onset Neurodegeneration with Variable Ataxia and Seizures (CONDSIAS).

Advanced Early-Onset Fahr's Disease: A Case Report.

Biomarkers for predicting disease course in Sanfilippo syndrome: An urgent unmet need in childhood-onset dementia.

Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS): new cases, systematic literature review, and associations with CSF1R-ALSP.

A novel biallelic frameshift variant in C2orf69 causing developmental regression, seizures, microcephaly, autistic features, and hypertonia.

A case of Sandhoff disease caused by a novel β-hexosaminidase B (HEXB) mutation c.118delG (p.A40fs*24): A case report from China.

PTRH2 Gene Variants: Recent Review of the Phenotypic Features and Their Bioinformatics Analysis.

Expanding the Knowledge of KIF1A-Dependent Disorders to a Group of Polish Patients.

Foveoschisis associated with gyrate atrophy in ornithine aminotransferase deficiency: A case report.

[Treatment of Spinal Muscular Atrophy].

Ketogenic diet-responsive drug-resistant epilepsy in a case of asparagine synthetase deficiency with a novel compound heterozygous missense variant.

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

Autosomal recessive Leber hereditary optic neuropathy, a new neuro-ophthalmo-genetic paradigm.

Shift from severe hypotension to salt-dependent hypertension in a child with autosomal recessive polycystic kidney disease after bilateral nephrectomies: a case report.

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

Clinical Manifestations Associated with the Domain-Containing Protein 2 Gene Mutation in an Iranian Family with Spastic Paraplegia 54.

[Clinical characteristics and genetic analysis of a case with adult neuronal ceroid lipofuscinosis type 7 due to variant of MFSD8 gene].

Complex clinical manifestations and new insights in RNA sequencing of children with diabetes and WFS1 variants.

[Progressive myoclonic epilepsy in the department of neurology of the University Teaching hospital Point "G"].

NOTCH2NLC GGC Repeat Expansion in Patients With Vascular Leukoencephalopathy.

A novel homozygous synonymous splicing variant in SELENOI gene causes spastic paraplegia 81.

Cynomolgus macaque model of neuronal ceroid lipofuscinosis type 2 disease.

ALG11-CDG: novel variant and review of the literature.

Linear Diagnostic Procedure Elicited by Clinical Genetics and Validated by mRNA Analysis in Neuronal Ceroid Lipofuscinosis 7 Associated with a Novel Non-Canonical Splice Site Variant in MFSD8.

Case report: Variants in the ERCC4 gene as a rare cause of cerebellar ataxia with chorea.

Case Report: A novel mutation in WFS1 gene (c.1756G>A p.A586T) is responsible for early clinical features of cognitive impairment and recurrent ischemic stroke.

Mitochondrial optic neuropathies.

Retinal Findings in Haemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts (HDBSCC): Case Report and Review.

WWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk.

β-cyclodextrin based nano gene delivery using pharmaceutical applications to treat Wolfram syndrome.

The neuroimaging spectrum of SLC13A5 related developmental and epileptic encephalopathy.

Novel compound heterozygous mutations of MTHFR Gene in a Chinese family with homocystinuria due to MTHFR deficiency.

Topological Structural Brain Connectivity Alterations in Aspartylglucosaminuria: A Case-Control Study.

Caregiver Burden of Spinal Muscular Atrophy: A Systematic Review.

Spinocerebellar ataxia type 17-digenic TBP/STUB1 disease: neuropathologic features of an autopsied patient.

Brain and spine MRI findings in children presenting with TMCO1 mutation.

Early onset hereditary neuronopathies: an update on non-5q motor neuron diseases.

A Novel Mutation in the NAGLU (N-Acetyl-Alpha-Glucosaminidase) Gene Associated With Mucopolysaccharidosis Type III-B in a Saudi Girl.

Evaluation of Cerebellar Ataxic Patients.

The top 10 most frequently involved genes in hereditary optic neuropathies in 2186 probands.

The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15.

Five patients with spinal muscular atrophy-progressive myoclonic epilepsy (SMA-PME): a novel pathogenic variant, treatment and review of the literature.

Clinical and genetic characterization of a Taiwanese cohort with spastic paraparesis combined with cerebellar involvement.

A Novel Missense Mutation in ERCC8 Co-Segregates with Cerebellar Ataxia in a Consanguineous Pakistani Family.