Affiliation: Massachusetts General Hospital
- Next generation sequencing with copy number variant detection expands the phenotypic spectrum of HSD17B4-deficiencyDaniel S Lieber
Ataxia Unit, Cognitive Behavioral Neurology Unit, Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114 USA
BMC Med Genet 15:30. 2014..Compound heterozygous mutations in HSD17B4 have also been reported in two sisters diagnosed with Perrault syndrome (MIM # 233400), who presented in adolescence with ovarian dysgenesis, hearing loss, and ataxia...
- An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant POLG1 mutationJohn F Staropoli
Neurogenetics DNA Diagnostic Laboratory, Center for Human Genetic Research, Massachusetts General Hospital, 185 Cambridge Street, Boston, MA 02114, USA
BMC Med Genet 13:50. 2012..The clinical heterogeneity of these disorders may shed light on genetic interactors that modify disease onset and progression...
- Improvement of bone disease by imiglucerase (Cerezyme) therapy in patients with skeletal manifestations of type 1 Gaucher disease: results of a 48-month longitudinal cohort studyK B Sims
Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA
Clin Genet 73:430-40. 2008..17 +/- 1.206 (p = 0.035) at month 36. This increase was sustained at 48 months. With imiglucerase treatment, patients should anticipate resolution of BC, rapid improvement in BP, increases in BMD, and decreased skeletal complications...
- Stroke in Fabry disease frequently occurs before diagnosis and in the absence of other clinical events: natural history data from the Fabry RegistryKatherine Sims
Center for Human Genetic Research and Neurology Department, Massachusetts General Hospital and Harvard Medical School, Boston, Mass 02114, USA
Stroke 40:788-94. 2009..This study was undertaken to better understand the natural history of cerebrovascular manifestations of Fabry disease...
- CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCLW Xin
Neurogenetics DNA Diagnostic Laboratory, Department of Neurology, and Center for Human Genetic Research, Massachusetts General Hospital, Simches Research Building, Boston, MA 02114, USA
Neurology 74:565-71. 2010....