about
Optic nerve compression and retinal degeneration in Tcirg1 mutant mice lacking the vacuolar-type H-ATPase a3 subunitA C-terminally truncated mouse Best3 splice variant targets and alters the ion balance in lysosome-endosome hybrids and the endoplasmic reticulum.Hematopoietic stem cell transplantation for infantile osteopetrosis.A case of infantile osteopetrosis: The radioclinical features with literature updateA Histologically Diagnosed Case with Infantile Osteopetrosis Complicated by Hypopituitarism.Spontaneous optic nerve compression in the osteopetrotic (op/op) mouse: a novel model of myelination failure.A missense mutation accelerating the gating of the lysosomal Cl-/H+-exchanger ClC-7/Ostm1 causes osteopetrosis with gingival hamartomas in cattle.Cell biology and physiology of CLC chloride channels and transporters.Osteopetrosis: genetics, treatment and new insights into osteoclast function.Malignant infantile osteopetrosis: case report with review of literature.ClC Channels and Transporters: Structure, Physiological Functions, and Implications in Human Chloride Channelopathies.Severe neurodegeneration with impaired autophagy mechanism triggered by ostm1 deficiency.An unusual cause of optic atrophy in a child.A Brain-Derived Neurotrophic Factor Mimetic Is Sufficient to Restore Cone Photoreceptor Visual Function in an Inherited Blindness Model.Non-total body irradiation myeloablative conditioning with intravenous busulfan and cyclophosphamide in hematopoietic stem cell transplantation for malignant infantile osteopetrosis.Loss of the chloride channel ClC-7 leads to lysosomal storage disease and neurodegeneration.An alternative splicing variant in Clcn7-/- mice prevents osteopetrosis but not neural and retinal degeneration.Endoscopic third ventriculostomy for hydrocephalus in osteopetrosis: a case report and review of the literature.Case update on cranial osteopetrosis: which is the role of the neurosurgeon?Neuropathology and craniofacial lesions of osteopetrotic Red Angus calves.Complex Heterozygous Mutation in the T-cell Immune Regulator 1 Gene Associated with Severe Ocular Characteristics of Osteopetrosis in an Infant.Novel mutations of TCIRG1 cause a malignant and mild phenotype of autosomal recessive osteopetrosis (ARO) in four Chinese families.Long-term survival in infantile malignant autosomal recessive osteopetrosis secondary to homozygous p.Arg526Gln mutation in CLCN7.The angel in the marble.OsteopetrosisElectron microscopic findings in skin biopsies from patients with infantile osteopetrosis and neuronal storage disease
P2860
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P2860
description
2003 nî lūn-bûn
@nan
2003 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Neurological aspects of osteopetrosis.
@ast
Neurological aspects of osteopetrosis.
@en
type
label
Neurological aspects of osteopetrosis.
@ast
Neurological aspects of osteopetrosis.
@en
prefLabel
Neurological aspects of osteopetrosis.
@ast
Neurological aspects of osteopetrosis.
@en
P2860
P1476
Neurological aspects of osteopetrosis
@en
P2093
Steward CG
P2860
P356
10.1046/J.1365-2990.2003.00474.X
P577
2003-04-01T00:00:00Z