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Quoted phrase not found in phrase index: "Tremor-ataxia-central hypomyelination syndrome"
Page 1
Congenital cataracts-facial dysmorphism-neuropathy.
Kalaydjieva L. Kalaydjieva L. Orphanet J Rare Dis. 2006 Aug 29;1:32. doi: 10.1186/1750-1172-1-32. Orphanet J Rare Dis. 2006. PMID: 16939648 Free PMC article. Review.
Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance. ...Diagnosis is clinical and is supported by electrophysiological and brain imaging studies. The major differential diagnosis is Mari …
Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheri …
Monocarboxylate Transporter 8 Deficiency: Delayed or Permanent Hypomyelination?
Vancamp P, Demeneix BA, Remaud S. Vancamp P, et al. Front Endocrinol (Lausanne). 2020 May 13;11:283. doi: 10.3389/fendo.2020.00283. eCollection 2020. Front Endocrinol (Lausanne). 2020. PMID: 32477268 Free PMC article. Review.
Monocarboxylate transporter 8 (MCT8) deficiency or the Allan-Herndon-Dudley Syndrome (AHDS) is an X-linked psychomotor disability syndrome with around 320 clinical cases described worldwide. ...In contrast, post-mortem studies and high-resolution MRIs detected WM (m …
Monocarboxylate transporter 8 (MCT8) deficiency or the Allan-Herndon-Dudley Syndrome (AHDS) is an X-linked psychomotor disability …
Hypomyelination with atrophy of the basal ganglia and cerebellum: follow-up and pathology.
van der Knaap MS, Linnankivi T, Paetau A, Feigenbaum A, Wakusawa K, Haginoya K, Köhler W, Henneke M, Dinopoulos A, Grattan-Smith P, Brockmann K, Schiffmann R, Blaser S. van der Knaap MS, et al. Neurology. 2007 Jul 10;69(2):166-71. doi: 10.1212/01.wnl.0000265592.74483.a6. Neurology. 2007. PMID: 17620549
BACKGROUND AND OBJECTIVE: Hypomyelination with atrophy of the basal ganglia and cerebellum is a recently defined disorder. ...The cerebellar cortex was affected, particularly the granular layer. CONCLUSION: Hypomyelination with atrophy of the basal ganglia and cereb …
BACKGROUND AND OBJECTIVE: Hypomyelination with atrophy of the basal ganglia and cerebellum is a recently defined disorder. ...The cer …
BCAP31-related syndrome: The first de novo report.
Rinaldi B, Van Hoof E, Corveleyn A, Van Cauter A, de Ravel T. Rinaldi B, et al. Eur J Med Genet. 2020 Feb;63(2):103732. doi: 10.1016/j.ejmg.2019.103732. Epub 2019 Jul 19. Eur J Med Genet. 2020. PMID: 31330203
Pathogenic variants in the BCAP31 gene have recently been associated with a severe congenital neurological phenotype, named DDCH after its key features: deafness, dystonia and central hypomyelination. BCAP31 is located at the Xq28 chromosomal region and only male individua …
Pathogenic variants in the BCAP31 gene have recently been associated with a severe congenital neurological phenotype, named DDCH after its k …
More than hypomyelination in Pol-III disorder.
Vanderver A, Tonduti D, Bernard G, Lai J, Rossi C, Carosso G, Quezado M, Wong K, Schiffmann R. Vanderver A, et al. J Neuropathol Exp Neurol. 2013 Jan;72(1):67-75. doi: 10.1097/NEN.0b013e31827c99d2. J Neuropathol Exp Neurol. 2013. PMID: 23242285 Free PMC article.
The 4H syndrome (hypomyelination, hypodontia, hypogonadotropic hypogonadism) is a newly recognized leukodystrophy. The classical form is characterized by the association of hypomyelination, abnormal dentition, and hypogonadotropic hypogonadism, but the recent …
The 4H syndrome (hypomyelination, hypodontia, hypogonadotropic hypogonadism) is a newly recognized leukodystrophy. The classic …
Genetic and phenotypic features of patients with childhood ataxias diagnosed by next-generation sequencing gene panel.
Arslan EA, Öncel İ, Ceylan AC, Topçu M, Topaloğlu H. Arslan EA, et al. Brain Dev. 2020 Jan;42(1):6-18. doi: 10.1016/j.braindev.2019.08.004. Epub 2019 Sep 4. Brain Dev. 2020. PMID: 31493945
METHODS: Eighty-four pediatric patients aged 0-18 years presenting to our clinic, evaluated by means of imaging, metabolic or pathological investigation, or single-gene test, in whom Friedreich's ataxia was excluded, and predicted to carry the progressive autosomal recessi …
METHODS: Eighty-four pediatric patients aged 0-18 years presenting to our clinic, evaluated by means of imaging, metabolic or pathological i …
Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course.
Esposito A, Falace A, Wagner M, Gal M, Mei D, Conti V, Pisano T, Aprile D, Cerullo MS, De Fusco A, Giovedì S, Seibt A, Magen D, Polster T, Eran A, Stenton SL, Fiorillo C, Ravid S, Mayatepek E, Hafner H, Wortmann S, Levanon EY, Marini C, Mandel H, Benfenati F, Distelmaier F, Fassio A, Guerrini R. Esposito A, et al. Brain. 2019 Dec 1;142(12):3876-3891. doi: 10.1093/brain/awz326. Brain. 2019. PMID: 31688942
Ohtahara syndrome, early infantile epileptic encephalopathy with a suppression burst EEG pattern, is an aetiologically heterogeneous condition starting in the first weeks or months of life with intractable seizures and profound developmental disability. ...Impaired lysosom …
Ohtahara syndrome, early infantile epileptic encephalopathy with a suppression burst EEG pattern, is an aetiologically heterogeneous …
X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1.
Miyake N, Wolf NI, Cayami FK, Crawford J, Bley A, Bulas D, Conant A, Bent SJ, Gripp KW, Hahn A, Humphray S, Kimura-Ohba S, Kingsbury Z, Lajoie BR, Lal D, Micha D, Pizzino A, Sinke RJ, Sival D, Stolte-Dijkstra I, Superti-Furga A, Ulrick N, Taft RJ, Ogata T, Ozono K, Matsumoto N, Neubauer BA, Simons C, Vanderver A. Miyake N, et al. Neurogenetics. 2017 Dec;18(4):185-194. doi: 10.1007/s10048-017-0520-x. Epub 2017 Aug 26. Neurogenetics. 2017. PMID: 28842795 Free PMC article.
An X-linked condition characterized by the combination of hypomyelinating leukodystrophy and spondylometaphyseal dysplasia (H-SMD) has been observed in only four families, with linkage to Xq25-27, and recent genetic characterization in two families with a common AIFM1 muta …
An X-linked condition characterized by the combination of hypomyelinating leukodystrophy and spondylometaphyseal dysplasia (H-SMD) ha …
Infantile nephrotic syndrome with microcephaly and global developmental delay: the Galloway Mowat Syndrome.
Krishnamurthy S, Rajesh NG, Ramesh A, Zenker M. Krishnamurthy S, et al. Indian J Pediatr. 2012 Aug;79(8):1087-90. doi: 10.1007/s12098-011-0616-5. Epub 2011 Dec 3. Indian J Pediatr. 2012. PMID: 22144119
The authors present the first case of Galloway Mowat Syndrome (GMS), a rare disorder comprising of nephrotic syndrome in association with microcephaly, from India. ...GMS must be suspected whenever microcephaly and global developmental delay occurs in association wi …
The authors present the first case of Galloway Mowat Syndrome (GMS), a rare disorder comprising of nephrotic syndrome in assoc …
45 results