Disease: Microcephaly with spastic quadriplegia
- <em>SEC31A</em> mutation affects ER homeostasis, causing a neurological syndrome
- A clinical study of cerebral palsy in Shiga; 1977-1986--II. Severity of the disability and complications in various types of cerebral palsy
- A Novel <em>GEMIN4</em> Variant in a Consanguineous Family Leads to Neurodevelopmental Impairment with Severe Microcephaly, Spastic Quadriplegia, Epilepsy, and Cataracts
- A novel <em>PAK3</em> pathogenic variant identified in two siblings from a Japanese family with X-linked intellectual disability: case report and review of the literature
- A novel 2.3 Mb microduplication of 12q24.21q24.23 detected by genome-wide tiling-path resolution array comparative genomic hybridization in a girl with syndromic mental retardation
- A novel compound heterozygous missense mutation in ASNS broadens the spectrum of asparagine synthetase deficiency
- A Novel GEMIN4 Variant in a Consanguineous Family Leads to Neurodevelopmental Impairment with Severe Microcephaly, Spastic Quadriplegia, Epilepsy, and Cataracts
- A novel loss of function mutation in adaptor protein complex 4, subunit mu-1 causing autosomal recessive spastic paraplegia 50
- A novel SLC1A4 homozygous mutation causing congenital microcephaly, epileptic encephalopathy and spastic tetraparesis: a video-EEG and tractography - case study
- Abnormal myelin formation in rhizomelic chondrodysplasia punctata type 2 (DHAPAT-deficiency)
- Abusive head trauma: two cases and mini-review of the current literature
- Acquired microcephaly after low Apgar score in Zimbabwe
- Acute neonatal morbidity and long-term central nervous system sequelae of perinatal asphyxia in term infants
- Agenesis of the corpus callosum, infantile spasms, spastic quadriplegia, microcephaly and severe mental retardation in three siblings
- Aicardi-Goutières syndrome: clinical and neuroradiological findings of 10 new cases
- An algorithm for identifying and classifying cerebral palsy in young children
- An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome
- An intractable epilepsy phenotype of ASNS novel mutation in two patients with asparagine synthetase deficiency
- Analysis of the Clinical Features and Imaging Findings of Pontocerebellar Hypoplasia Type 2D Caused by Mutations in SEPSECS Gene
- Asparagine Synthetase Deficiency
- Asparagine Synthetase Deficiency: New Inborn Errors of Metabolism
- Association of apolipoprotein E genotype and cerebral palsy in children
- Autosomal recessive spastic tetraplegia caused by AP4M1 and AP4B1 gene mutation: expansion of the facial and neuroimaging features
- Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy
- Case report: A compound heterozygous mutations in <em>ASNS</em> broadens the spectrum of asparagine synthetase deficiency in the prenatal diagnosis
- Central Nervous System and Cardiac Abnormalities in the Setting of a De Novo Heterozygous Col4a1 Variant
- Cerebral folate deficiency: A report of two affected siblings
- Cerebral palsy and pyruvate dehydrogenase deficiency: identification of two new mutations in the E1alpha gene
- Cerebral palsy--an etiological study
- Changes in the clinical spectrum of cerebral palsy over two decades in North India--an analysis of 1212 cases
- Childhood presentation of COL4A1 mutations
- Clinical and genetic characterization of a 2-year-old boy with complete PLP1 deletion
- Cockayne syndrome: clinicopathologic and tissue culture studies of affected siblings
- Comprehensive genotype-phenotype correlation in AP-4 deficiency syndrome; Adding data from a large cohort of Iranian patients
- Congenital cytomegalovirus infection
- Cystic leukoencephalopathy without megalencephaly: a distinct disease entity in 15 children
- Death as an option in neonatal intensive care
- Decreased activities of mitochondrial respiratory chain complexes in non-mitochondrial respiratory chain diseases
- Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability
- Deficiency of WARS2, encoding mitochondrial tryptophanyl tRNA synthetase, causes severe infantile onset leukoencephalopathy
- Delineation of the phenotype of MED17-related disease in Caucasus-Jewish families
- Dystonia associated with carbamazepine administration: experience in brain-damaged children
- Early childhood education: a means to earlier diagnosis of hearing impairment in the multihandicapped
- Early Gross Motor Development Among Brazilian Children with Microcephaly Born Right After Zika Virus Infection Outbreak
- Effects of cytomegalovirus hepatitis on growth, development and nervous system of infants. A follow-up study
- El-Hattab-Alkuraya Syndrome
- El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype
- Elaborating the phenotypic spectrum associated with mutations in ARFGEF2: case study and literature review
- Epidemiology of spastic tetraplegic cerebral palsy in Sweden. I. Impairments and disabilities
- Epidemiology of spastic tetraplegic cerebral palsy in Sweden. II. Prevalence, birth data and origin
- Etiologic yield of cerebral palsy: a contemporary case series
- Familial calcification of the basal ganglia with cerebrospinal fluid pleocytosis
- Familial Case of Pelizaeus-Merzbacher Disorder Detected by Oligoarray Comparative Genomic Hybridization: Genotype-to-Phenotype Diagnosis
- Familial microcephaly with severe neurological deficits: a description of five affected siblings
- Familial microcephaly with spasticity and epilepsy in 2 sisters
- Generation and characterization of a knock-in mouse model for spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SPATCCM)
- Homozygosity for a nonsense variant in AIMP2 is associated with a progressive neurodevelopmental disorder with microcephaly, seizures, and spastic quadriparesis
- Hyperekplexia, microcephaly and simplified gyral pattern caused by novel ASNS mutations, case report
- Hypomyelination with atrophy of the basal ganglia and cerebellum. Contribution of two new cases to a recently reported entity
- Impact of presenting patient characteristics on surgical complications and morbidity in early onset scoliosis
- Increased serum creatine kinase due to hypocalcemia in vitamin D deficiency
- Interstitial 7q deletion [46,XY,del (7) (pter----cen::q112----qter)] in a retarded quadriplegic boy with normal beta glucuronidase
- Isolated Sulfite Oxidase Deficiency
- Late diagnosis and atypical brain imaging of Aicardi-Goutières syndrome: are we failing to diagnose Aicardi-Goutières syndrome-2?
- Long-term outcome of abusive head trauma
- Martsolf syndrome with novel mutation in the TBC1D20 gene in a family from Iran
- Microcephaly: genetic counselling and antenatal diagnosis after the birth of an affected child
- Molybdenum cofactor deficiency: A natural history
- Monozygotic twin patients with congenital ichthyosis, microcephalus, spastic quadriplegia, myoclonus, and EEG abnormalities
- Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophy
- NDE1-related disorders: A recurrent NDE1 pathogenic variant causing Lissencephaly 4 can also be associated with microhydranencephaly
- Neonatal brain MRI and motor outcome at school age in children with neonatal encephalopathy: a review of personal experience
- Neurodevelopmental follow-up at 36 months' corrected age of preterm infants treated with prophylactic indomethacin
- Neurologic abnormalities associated with persistent hyperplastic primary vitreous
- New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum
- Novel compound heterozygous variants (c.971delA/c.542C > T) in <em>SLC1A4</em> causes spastic tetraplegia, thin corpus callosum, and progressive microcephaly: a case report and mutational analysis
- Novel compound heterozygous variants (c.971delA/c.542C > T) in SLC1A4 causes spastic tetraplegia, thin corpus callosum, and progressive microcephaly: a case report and mutational analysis
- Novel manifestations of Warburg micro syndrome type 1 caused by a new splicing variant of RAB3GAP1: a case report
- Novel, homozygous RAB3GAP1 c.2606 + 1G>A, p.Glu830ValfsTer9 variant and chromosome 3q29 duplication in a Turkish individual with Warburg micro syndrome
- Ocular characteristics of a 6-year-Old boy with molybdenum cofactor deficiency type B
- Oculo-palato-cerebral syndrome: a third case supporting autosomal recessive inheritance
- Perinatal Manifestations of <em>DARS2</em>-Associated Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate Elevation (LBSL)
- Progressive atrophy of the cerebrum in 2 Japanese sisters with microcephaly with simplified gyri and enlarged extraaxial space
- Progressive cerebellocerebral atrophy: a new syndrome with microcephaly, mental retardation, and spastic quadriplegia
- Recessive mutations in SLC35A3 cause early onset epileptic encephalopathy with skeletal defects
- Recognizable inherited syndrome of progressive central nervous system degeneration and generalized intracranial calcification with overlapping phenotype of the syndrome of Aicardi and Goutières
- Recurrence risks in families of children with symmetrical spasticity
- Risk Factor Predictors for Developing Epilepsy in Cerebral Palsy Patients in a Tertiary Hospital in Saudi Arabia: A Retrospective Study
- Serine Deficiency Disorders
- Severe isolated sulfide oxidase deficiency with a novel mutation
- Sonographic finding of the bright thalamus
- SPTAN1 encephalopathy: distinct phenotypes and genotypes
- Symmetrical cortical calcification of the cerebrum following pre-natal encephalitis (author's transl)
- The aftermath of childbirth. The paediatric aspect
- The first report of Japanese patients with asparagine synthetase deficiency
- The SORCS3 gene is mutated in brothers with infantile spasms and intellectual disability
- TLE1, a key player in neurogenesis, a new candidate gene for autosomal recessive postnatal microcephaly
- Unusual presentation of familial glucocorticoid deficiency with a novel MRAP mutation
- West syndrome, developmental and epileptic encephalopathy, and severe CNS disorder associated with WWOX mutations
- X-linked recessive microencephaly, microphthalmia with corneal opacities, spastic quadriplesia, hypospadias and cryptorchidism