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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1963 1
1964 1
1967 1
1969 2
1970 1
1971 1
1972 1
1973 3
1974 1
1975 5
1976 7
1977 3
1978 4
1979 4
1980 4
1981 4
1982 7
1983 5
1984 6
1985 5
1986 2
1987 3
1988 3
1989 4
1990 4
1991 6
1992 9
1993 10
1994 8
1995 6
1996 8
1997 5
1998 5
1999 6
2000 6
2001 5
2002 9
2003 7
2004 7
2005 8
2006 11
2007 9
2008 12
2009 14
2010 14
2011 18
2012 24
2013 28
2014 17
2015 23
2016 27
2017 26
2018 22
2019 34
2020 37
2021 48
2022 33
2023 39
2024 10

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571 results

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Page 1
International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy: A Consensus-Based Approach.
Engelen M, van Ballegoij WJC, Mallack EJ, Van Haren KP, Köhler W, Salsano E, van Trotsenburg ASP, Mochel F, Sevin C, Regelmann MO, Tritos NA, Halper A, Lachmann RH, Davison J, Raymond GV, Lund TC, Orchard PJ, Kuehl JS, Lindemans CA, Caruso P, Turk BR, Moser AB, Vaz FM, Ferdinandusse S, Kemp S, Fatemi A, Eichler FS, Huffnagel IC. Engelen M, et al. Neurology. 2022 Nov 22;99(21):940-951. doi: 10.1212/WNL.0000000000201374. Epub 2022 Sep 29. Neurology. 2022. PMID: 36175155 Free PMC article.
Pathogenic variants in the ABCD1 gene cause adrenoleukodystrophy (ALD), a progressive metabolic disorder characterized by 3 core clinical syndromes: a slowly progressive myeloneuropathy, a rapidly progressive inflammatory leukodystrophy (cerebral ALD), and primary adrenal …
Pathogenic variants in the ABCD1 gene cause adrenoleukodystrophy (ALD), a progressive metabolic disorder characterized by 3 core clinical sy …
Adult Leukodystrophies: A Step-by-Step Diagnostic Approach.
Resende LL, de Paiva ARB, Kok F, da Costa Leite C, Lucato LT. Resende LL, et al. Radiographics. 2019 Jan-Feb;39(1):153-168. doi: 10.1148/rg.2019180081. Radiographics. 2019. PMID: 30620693 Review.
The first step is to identify symmetric white matter involvement, which is more commonly observed in these patients. The next step is to fit the symmetric white matter involvement into one of the proposed patterns. ...
The first step is to identify symmetric white matter involvement, which is more commonly observed in these patients. The next step is …
Lentiviral haematopoietic stem-cell gene therapy for early-onset metachromatic leukodystrophy: long-term results from a non-randomised, open-label, phase 1/2 trial and expanded access.
Fumagalli F, Calbi V, Natali Sora MG, Sessa M, Baldoli C, Rancoita PMV, Ciotti F, Sarzana M, Fraschini M, Zambon AA, Acquati S, Redaelli D, Attanasio V, Miglietta S, De Mattia F, Barzaghi F, Ferrua F, Migliavacca M, Tucci F, Gallo V, Del Carro U, Canale S, Spiga I, Lorioli L, Recupero S, Fratini ES, Morena F, Silvani P, Calvi MR, Facchini M, Locatelli S, Corti A, Zancan S, Antonioli G, Farinelli G, Gabaldo M, Garcia-Segovia J, Schwab LC, Downey GF, Filippi M, Cicalese MP, Martino S, Di Serio C, Ciceri F, Bernardo ME, Naldini L, Biffi A, Aiuti A. Fumagalli F, et al. Lancet. 2022 Jan 22;399(10322):372-383. doi: 10.1016/S0140-6736(21)02017-1. Lancet. 2022. PMID: 35065785 Free PMC article. Clinical Trial.
BACKGROUND: Effective treatment for metachromatic leukodystrophy (MLD) remains a substantial unmet medical need. In this study we investigated the safety and efficacy of atidarsagene autotemcel (arsa-cel) in patients with MLD. ...Most treated patients progressively acquire …
BACKGROUND: Effective treatment for metachromatic leukodystrophy (MLD) remains a substantial unmet medical need. In this study we inv …
Lentiviral hematopoietic stem cell gene therapy benefits metachromatic leukodystrophy.
Biffi A, Montini E, Lorioli L, Cesani M, Fumagalli F, Plati T, Baldoli C, Martino S, Calabria A, Canale S, Benedicenti F, Vallanti G, Biasco L, Leo S, Kabbara N, Zanetti G, Rizzo WB, Mehta NA, Cicalese MP, Casiraghi M, Boelens JJ, Del Carro U, Dow DJ, Schmidt M, Assanelli A, Neduva V, Di Serio C, Stupka E, Gardner J, von Kalle C, Bordignon C, Ciceri F, Rovelli A, Roncarolo MG, Aiuti A, Sessa M, Naldini L. Biffi A, et al. Science. 2013 Aug 23;341(6148):1233158. doi: 10.1126/science.1233158. Epub 2013 Jul 11. Science. 2013. PMID: 23845948 Clinical Trial.
Metachromatic leukodystrophy (MLD) is an inherited lysosomal storage disease caused by arylsulfatase A (ARSA) deficiency. ...The disease did not manifest or progress in the three patients 7 to 21 months beyond the predicted age of symptom onset. These findings indic …
Metachromatic leukodystrophy (MLD) is an inherited lysosomal storage disease caused by arylsulfatase A (ARSA) deficiency. ...The dise …
Pearls: myelopathy.
Kumar N. Kumar N. Semin Neurol. 2010 Feb;30(1):38-43. doi: 10.1055/s-0029-1244993. Epub 2010 Feb 1. Semin Neurol. 2010. PMID: 20127580
Abnormalities suggestive of demyelinating disease on brain magnetic resonance imaging (MRI) are known to be highly predictive of conversion to multiple sclerosis in a patient who presents with a transverse myelitis ("clinically isolated syndrome"). ...Three hereditary myel …
Abnormalities suggestive of demyelinating disease on brain magnetic resonance imaging (MRI) are known to be highly predictive of conv …
Neuroimmune mechanisms in Krabbe's disease.
Potter GB, Petryniak MA. Potter GB, et al. J Neurosci Res. 2016 Nov;94(11):1341-8. doi: 10.1002/jnr.23804. J Neurosci Res. 2016. PMID: 27638616 Free PMC article. Review.
Neuroinflammation, activation of innate immune components of the nervous system followed by an adaptive immune response, is observed in most leukodystrophies and coincides with white matter pathology, disease progression, and morbidity. ...
Neuroinflammation, activation of innate immune components of the nervous system followed by an adaptive immune response, is observed …
Expanding the Spectrum of NUBPL-Related Leukodystrophy.
Tonduti D, Zambon AA, Ghezzi D, Lamantea E, Izzo R, Parazzini C, Baldoli C, van der Knaap MS, Fumagalli F. Tonduti D, et al. Neuropediatrics. 2023 Jun;54(3):161-166. doi: 10.1055/s-0043-1764214. Epub 2023 Mar 3. Neuropediatrics. 2023. PMID: 36868263 Review.
Genetic defects in NUBPL have been recognized as cause of a pediatric onset mitochondrial leukodystrophy characterized by onset at the end of the first year of life with motor delay or regression and cerebellar signs, followed by progressive spasticity. ...We performed a l …
Genetic defects in NUBPL have been recognized as cause of a pediatric onset mitochondrial leukodystrophy characterized by onset at th …
Phenotypic impacts of CSF1R deficiencies in humans and model organisms.
Hume DA, Caruso M, Ferrari-Cestari M, Summers KM, Pridans C, Irvine KM. Hume DA, et al. J Leukoc Biol. 2020 Feb;107(2):205-219. doi: 10.1002/JLB.MR0519-143R. Epub 2019 Jul 22. J Leukoc Biol. 2020. PMID: 31330095 Review.
Mono-allelic gain-of-function mutations in CSF1R in humans are associated with an autosomal-dominant leukodystrophy and bi-allelic loss-of-function mutations with recessive skeletal dysplasia, brain disorders, and developmental anomalies. Most of the phenotypes observed …
Mono-allelic gain-of-function mutations in CSF1R in humans are associated with an autosomal-dominant leukodystrophy and bi-allelic lo …
Clinical and radiological spectrum of anti-myelin oligodendrocyte glycoprotein (MOG) antibody encephalitis: single-center observational study.
Salunkhe M, Gupta P, Singh RK, Tayade K, Goel V, Agarwal A, Das A, Elavarasi A, Pandit AK, Vibha D, Garg A, Sebastian LJD, Bhatia R, Tripathi M, Gaikwad S, Srivastava M. Salunkhe M, et al. Neurol Sci. 2023 Jul;44(7):2475-2489. doi: 10.1007/s10072-023-06686-z. Epub 2023 Feb 22. Neurol Sci. 2023. PMID: 36810716
Three patients had tumefactive demyelination, and one patient had a leukodystrophy-like lesion. Twelve of 16 (75%) patients had a good clinical outcome. Patient with leukodystrophy pattern and other with generalized CNS atrophy showed a chronic progressive course. . …
Three patients had tumefactive demyelination, and one patient had a leukodystrophy-like lesion. Twelve of 16 (75%) patients had a goo …
Mitochondrial aminoacyl-tRNA synthetase disorders: an emerging group of developmental disorders of myelination.
Fine AS, Nemeth CL, Kaufman ML, Fatemi A. Fine AS, et al. J Neurodev Disord. 2019 Dec 16;11(1):29. doi: 10.1186/s11689-019-9292-y. J Neurodev Disord. 2019. PMID: 31839000 Free PMC article. Review.
There is evidence that the clinical variability and white matter tract specificity of each mt-aaRS leukodystrophy depend on both canonical and non-canonical effects of the mutations on the process of mitochondrial translation. Furthermore, different sensitivities to the mt …
There is evidence that the clinical variability and white matter tract specificity of each mt-aaRS leukodystrophy depend on both cano …
571 results