Cerebral white matter: neuroanatomy, clinical neurology, and neurobehavioral correlates

JD Schmahmann, EE Smith, FS Eichler… - Annals of the New …, 2008 - Wiley Online Library
… We have seen this disease (Schmahmann, Eichler unpublished) produce a relentlessly
progressive dementia in a man in his sixth decade, with inattention, amnesia, impaired cognitive …

Case definition and classification of leukodystrophies and leukoencephalopathies

…, HM Hussey, G Helman, J Garbern, F Eichler… - Molecular genetics and …, 2015 - Elsevier
Objective An approved definition of the term leukodystrophy does not currently exist. The lack
of a precise case definition hampers efforts to study the epidemiology and the relevance of …

[HTML][HTML] Pathophysiology of X-linked adrenoleukodystrophy

J Berger, S Forss-Petter, FS Eichler - Biochimie, 2014 - Elsevier
Currently the molecular basis for the clinical heterogeneity of X-linked adrenoleukodystrophy
(X-ALD) is poorly understood. The genetic bases for all different phenotypic variants of X-…

[PDF][PDF] Sequential adjuvant epirubicin-based and docetaxel chemotherapy for node-positive breast cancer patients: the FNCLCC PACS 01 Trial

…, M Symann, P Kerbrat, P Soulié, F Eichler… - Journal of Clinical …, 2006 - researchgate.net
Purpose The PACS 01 trial compared six cycles of fluorouracil, epirubicin, and cyclophosphamide
(FEC) with a sequential regimen of three cycles of FEC followed by three cycles of …

[HTML][HTML] Hematopoietic stem-cell gene therapy for cerebral adrenoleukodystrophy

F Eichler, C Duncan, PL Musolino… - … England Journal of …, 2017 - Mass Medical Soc
Background In X-linked adrenoleukodystrophy, mutations in ABCD1 lead to loss of function
of the ALD protein. Cerebral adrenoleukodystrophy is characterized by demyelination and …

[HTML][HTML] Hereditary Sensory Neuropathy Type 1 Is Caused by the Accumulation of Two Neurotoxic Sphingolipids*♦

…, ET Stoeckli, G Nicholson, F Eichler… - Journal of biological …, 2010 - ASBMB
HSAN1 is an inherited neuropathy found to be associated with several missense mutations
in the SPTLC1 subunit of serine palmitoyltransferase (SPT). SPT catalyzes the condensation …

Identification of small subunits of mammalian serine palmitoyltransferase that confer distinct acyl-CoA substrate specificities

…, P Moitra, F Eichler… - Proceedings of the …, 2009 - National Acad Sciences
Serine palmitoyltransferase (SPT) catalyzes the first committed step in sphingolipid biosynthesis.
In yeast, SPT is composed of a heterodimer of 2 highly-related subunits, Lcb1p and …

[HTML][HTML] Oral l-serine supplementation reduces production of neurotoxic deoxysphingolipids in mice and humans with hereditary sensory autonomic neuropathy type …

…, RH Brown, T Hornemann, FS Eichler - The Journal of …, 2011 - Am Soc Clin Investig
Hereditary sensory and autonomic neuropathy type 1 (HSAN1) causes sensory loss that
predominantly affects the lower limbs, often preceded by hyperpathia and spontaneous …

AAV gene therapy for Tay-Sachs disease

…, MS Shazeeb, M Gounis, CJ Tifft, FS Eichler… - Nature medicine, 2022 - nature.com
Tay-Sachs disease (TSD) is an inherited neurological disorder caused by deficiency of
hexosaminidase A (HexA). Here, we describe an adeno-associated virus (AAV) gene therapy …

[HTML][HTML] Serine and lipid metabolism in macular disease and peripheral neuropathy

…, C Egan, M Gillies, R Guymer, F Eichler… - … England Journal of …, 2019 - Mass Medical Soc
Background Identifying mechanisms of diseases with complex inheritance patterns, such as
macular telangiectasia type 2, is challenging. A link between macular telangiectasia type 2 …