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Effectiveness of valproate for the treatment of manic-like behavior in X-linked adrenoleukodystrophy.
- Published in:
- 2012
- By:
- Publication type:
- Letter
Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0240-y
- By:
- Publication type:
- Article
Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms.
- Published in:
- 2012
- By:
- Publication type:
- journal article
Molecular Genetic Analysis of the PLP1 Gene in 38 Families with PLP1-related disorders: Identification and Functional Characterization of 11 Novel PLP1 Mutations.
- Published in:
- Orphanet Journal of Rare Diseases, 2011, v. 6, n. 1, p. 40, doi. 10.1186/1750-1172-6-40
- By:
- Publication type:
- Article
Quantitative MRI of the spinal cord and brain in adrenomyeloneuropathy: in vivo assessment of structural changes.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Mitochondrial dysfunction in central nervous system white matter disorders.
- Published in:
- Glia, 2014, v. 62, n. 11, p. 1878, doi. 10.1002/glia.22670
- By:
- Publication type:
- Article
Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies.
- Published in:
- Nature Genetics, 2011, v. 43, n. 3, p. 259, doi. 10.1038/ng.761
- By:
- Publication type:
- Article
Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency.
- Published in:
- Nature Genetics, 2010, v. 42, n. 12, p. 1131, doi. 10.1038/ng.706
- By:
- Publication type:
- Article
SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy.
- Published in:
- Nature Genetics, 2009, v. 41, n. 6, p. 654, doi. 10.1038/ng.378
- By:
- Publication type:
- Article
Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation.
- Published in:
- Nature Genetics, 2007, v. 39, n. 4, p. 534, doi. 10.1038/ng2013
- By:
- Publication type:
- Article
Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract.
- Published in:
- Nature Genetics, 2006, v. 38, n. 10, p. 1111, doi. 10.1038/ng1870
- By:
- Publication type:
- Article
Sequence and Copy Number Analyses of HEXB Gene in Patients Affected by Sandhoff Disease: Functional Characterization of 9 Novel Sequence Variants.
- Published in:
- PLoS ONE, 2012, v. 7, n. 7, p. 1, doi. 10.1371/journal.pone.0041516
- By:
- Publication type:
- Article
Double-trouble in pediatric neurology: Myotonia congenita combined with charcot-marie-tooth disease type 1a.
- Published in:
- Muscle & Nerve, 2014, v. 50, n. 1, p. 145, doi. 10.1002/mus.24205
- By:
- Publication type:
- Article
Intracranial calcification in early infantile Krabbe disease: nothing new under the sun.
- Published in:
- Developmental Medicine & Child Neurology, 2012, v. 54, n. 4, p. 376, doi. 10.1111/j.1469-8749.2011.04167.x
- By:
- Publication type:
- Article
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy.
- Published in:
- Brain: A Journal of Neurology, 2014, v. 137, n. 4, p. 1019, doi. 10.1093/brain/awu026
- By:
- Publication type:
- Article
Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations.
- Published in:
- Brain: A Journal of Neurology, 2009, v. 132, n. 2, p. 426, doi. 10.1093/brain/awn328
- By:
- Publication type:
- Article
Phenotypic characterization of hypomyelination and congenital cataract.
- Published in:
- Annals of Neurology, 2007, v. 62, n. 2, p. 121, doi. 10.1002/ana.21175
- By:
- Publication type:
- Article
X-linked creatine deficiency syndrome: A novel mutation in creatine transporter gene SLC6A8.
- Published in:
- Annals of Neurology, 2002, v. 52, n. 2, p. 227, doi. 10.1002/ana.10246
- By:
- Publication type:
- Article
MRI in Leigh syndrome with SURF1 gene mutation.
- Published in:
- 2002
- By:
- Publication type:
- commentary
The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?
- Published in:
- Journal of Neurology, 2014, v. 261, n. 3, p. 504, doi. 10.1007/s00415-013-7225-3
- By:
- Publication type:
- Article
Adult-onset autosomal dominant leukodystrophy without early autonomic dysfunctions linked to lamin B1 duplication: a phenotypic variant.
- Published in:
- Journal of Neurology, 2013, v. 260, n. 8, p. 2124, doi. 10.1007/s00415-013-6958-3
- By:
- Publication type:
- Article
Adult-onset leukodystrophies from respiratory chain disorders: do they exist?
- Published in:
- Journal of Neurology, 2013, v. 260, n. 6, p. 1617, doi. 10.1007/s00415-013-6844-z
- By:
- Publication type:
- Article
Childhood Cerebral X-Linked Adrenoleukodystrophy More Than 5 Years After Hematopoietic Cell Transplantation: The First Case From Serbia and Southeastern Europe.
- Published in:
- 2010
- By:
- Publication type:
- Case Study
Reconstitution of lymphocyte subpopulations in children with inherited metabolic storage diseases after haematopoietic cell transplantation.
- Published in:
- British Journal of Haematology, 2005, v. 130, n. 2, p. 249, doi. 10.1111/j.1365-2141.2005.05585.x
- By:
- Publication type:
- Article
Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA alleles.
- Published in:
- Human Mutation, 2008, v. 29, n. 11, p. E220, doi. 10.1002/humu.20851
- By:
- Publication type:
- Article
Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency.
- Published in:
- Human Mutation, 2004, v. 23, n. 6, p. 576, doi. 10.1002/humu.20040
- By:
- Publication type:
- Article
Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 10, p. 1241, doi. 10.1093/hmg/ddm072
- By:
- Publication type:
- Article
Normalization of short-chain acylcoenzyme a dehydrogenase after riboflavin treatment in a girl with multiple acylcoenzyme a dehydrogenase-deficient myopathy.
- Published in:
- Annals of Neurology, 1989, v. 25, n. 5, p. 479, doi. 10.1002/ana.410250510
- By:
- Publication type:
- Article
Cytochrome c oxidase deficiency in leigh syndrome.
- Published in:
- Annals of Neurology, 1987, v. 22, n. 4, p. 498, doi. 10.1002/ana.410220409
- By:
- Publication type:
- Article
Expanding the spectrum of megalencephalic leukoencephalopathy with subcortical cysts in two patients with GLIALCAM mutations.
- Published in:
- Neurogenetics, 2014, v. 15, n. 1, p. 41, doi. 10.1007/s10048-013-0381-x
- By:
- Publication type:
- Article
Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients.
- Published in:
- Neurogenetics, 2011, v. 12, n. 3, p. 193, doi. 10.1007/s10048-011-0281-x
- By:
- Publication type:
- Article
Molecular analysis of NPC1 and NPC2 gene in 34 Niemann–Pick C Italian Patients: identification and structural modeling of novel mutations.
- Published in:
- Neurogenetics, 2009, v. 10, n. 3, p. 229, doi. 10.1007/s10048-009-0175-3
- By:
- Publication type:
- Article
Rhythmic cortical myoclonus in Niemann-Pick disease type C.
- Published in:
- Movement Disorders, 2006, v. 21, n. 9, p. 1453, doi. 10.1002/mds.20984
- By:
- Publication type:
- Article
Sequence diversity of KIAA0027/MLC1: are megalencephalic leukoencephalopathy and schizophrenia allelic disorders?
- Published in:
- Human Mutation, 2003, v. 21, n. 1, p. 45, doi. 10.1002/humu.10145
- By:
- Publication type:
- Article
A Single Cell Complementation Class is Common to Several Cases of Cytochrome c Oxidase-Defective Leigh's Syndrome.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 2, p. 221, doi. 10.1093/hmg/6.2.221
- By:
- Publication type:
- Article
Experience on Therapy of Adrenoleukodystrophy and Adrenomyeloneuropathy.
- Published in:
- Developmental Neuroscience, 1991, v. 13, n. 4/5, p. 274, doi. 10.1159/000112173
- By:
- Publication type:
- Article
Carnitine stimulation of pyruvate dehydrogenase complex (PDHC) in isolated human skeletal muscle mitochondria.
- Published in:
- Muscle & Nerve, 1988, v. 11, n. 7, p. 720, doi. 10.1002/mus.880110708
- By:
- Publication type:
- Article