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Paper Details

Genomic deletions upstream of lamin B1 lead to atypical autosomal dominant leukodystrophy.
Neurol Genet
15
2019
LMNB1, LMNB1 gene, LMNB1 upstream, LMNB1 upstream deletions, Patients, autosomal dominant adult-onset leukodystrophy, autosomal dominant leukodystrophy, cerebellar dysfunction, dysautonomia, hypophonia, lamin B1, leukodystrophy, neurologic symptoms, patient, patient cells, patients, repetitive DNA genomic elements, repetitive elements, spasticity, upper and lower limb weakness, white matter alterations
Author NameAffiliation
Malte SpielmannGraduate School of Public Health, University of Pittsburgh Department of Medical Sciences (E.G., University of Torino, Uppsala University, British Columbia Children's Hospital, University of Washington, McGovern Medical School, University of Texas, Houston Departments of Clinical Genomics and Neurology (R.G.), Mayo Clinic, King Abdulaziz University, Western University, Canada Departments of Pathology and Clinical Neurological Sciences (R.H.), Western University and London Health Sciences Centre, Canada Office of the Clinical Director (W.A.G., NHGRI and NIH Undiagnosed Diseases Program (W.A.G.
Mary Kay KoenigGraduate School of Public Health, University of Pittsburgh Department of Medical Sciences (E.G., University of Torino, Uppsala University, British Columbia Children's Hospital, University of Washington, McGovern Medical School, University of Texas, Houston Departments of Clinical Genomics and Neurology (R.G.), Mayo Clinic, King Abdulaziz University, Western University, Canada Departments of Pathology and Clinical Neurological Sciences (R.H.), Western University and London Health Sciences Centre, Canada Office of the Clinical Director (W.A.G., NHGRI and NIH Undiagnosed Diseases Program (W.A.G.
William A GahlGraduate School of Public Health, University of Pittsburgh Department of Medical Sciences (E.G., University of Torino, Uppsala University, British Columbia Children's Hospital, University of Washington, McGovern Medical School, University of Texas, Houston Departments of Clinical Genomics and Neurology (R.G.), Mayo Clinic, King Abdulaziz University, Western University, Canada Departments of Pathology and Clinical Neurological Sciences (R.H.), Western University and London Health Sciences Centre, Canada Office of the Clinical Director (W.A.G., NHGRI and NIH Undiagnosed Diseases Program (W.A.G.
William A GahlGraduate School of Public Health, University of Pittsburgh Department of Medical Sciences (E.G., University of Torino, Uppsala University, British Columbia Children's Hospital, University of Washington, McGovern Medical School, University of Texas, Houston Departments of Clinical Genomics and Neurology (R.G.), Mayo Clinic, King Abdulaziz University, Western University, Canada Departments of Pathology and Clinical Neurological Sciences (R.H.), Western University and London Health Sciences Centre, Canada Office of the Clinical Director (W.A.G., NHGRI and NIH Undiagnosed Diseases Program (W.A.G.
Camilo ToroGraduate School of Public Health, University of Pittsburgh Department of Medical Sciences (E.G., University of Torino, Uppsala University, British Columbia Children's Hospital, University of Washington, McGovern Medical School, University of Texas, Houston Departments of Clinical Genomics and Neurology (R.G.), Mayo Clinic, King Abdulaziz University, Western University, Canada Departments of Pathology and Clinical Neurological Sciences (R.H.), Western University and London Health Sciences Centre, Canada Office of the Clinical Director (W.A.G., NHGRI and NIH Undiagnosed Diseases Program (W.A.G.
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