Alice B. Schindler

National Institutes of Health — United States

Neuroscience · Life Sciences

20h-index1.6kcitations71works0.82yr avg
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Research Topics

Genetic Neurodegenerative Diseases(22), Neurogenetic and Muscular Disorders Research(18), Muscle Physiology and Disorders(14), Hereditary Neurological Disorders(13), Neurological diseases and metabolism(11)

Publications71 total

The spinal and bulbar muscular atrophy-health index: a disease-specific outcome measure
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration·2026
The spinal and bulbar muscular atrophy-health index: a disease-specific outcome measure
Figshare·2026Open Access
The spinal and bulbar muscular atrophy-health index: a disease-specific outcome measure
Figshare·2026Open Access
Clinical, neuropathological, and biochemical characterization of ALS in a large CHCHD10 R15L family
2025· 1 citedOpen Access
CSF and blood neuronal injury biomarkers in spinal bulbar muscular atrophy and amyotrophic lateral sclerosis 4
Brain Communications·2025Open Access
AP2A2 mutation and defective endocytosis in a Malian family with hereditary spastic paraplegia
Neurobiology of Disease·2024· 4 citedOpen Access
Anticipatory action in communities hosting refugees and internally displaced persons: an assessment of current approaches
2023Open Access
Life-Long Steroid Responsive Familial Myopathy With Docking Protein 7 Mutation
Journal of Clinical Neuromuscular Disease·2022· 2 cited
A Heterozygous Mutation in <i>MFF</i> Associated with a Mild Mitochondrial Phenotype
Journal of Neuromuscular Diseases·2022· 4 cited
Heterozygous <i>PRKN</i> mutations are common but do not increase the risk of Parkinson’s disease
Brain·2021· 67 citedOpen Access
Heterozygous <i>PRKN</i> mutations are common but do not increase the risk of Parkinson’s disease
2021· 3 citedOpen Access
Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases
Journal of Neurology Neurosurgery & Psychiatry·2021· 21 citedOpen Access
<scp>α‐Synuclein</scp> Deposition in Sympathetic Nerve Fibers in Genetic Forms of Parkinson's Disease
Movement Disorders·2021· 25 citedOpen Access
α-Synuclein in Sympathetic Nerve Fibers Distinguishes among Genetic Forms of Parkinson’s Disease (4401)
Neurology·2021
Cardiac MRI identifies valvular and myocardial disease in a subset of ANO5-related muscular dystrophy patients
Neuromuscular Disorders·2020· 6 cited
Author response: Peripheral synucleinopathy in a DJ1 patient with Parkinson disease, cataracts, and hearing loss
Neurology·2020
Clinical and Molecular Aspects of Senataxin Mutations in Amyotrophic Lateral Sclerosis 4
Annals of Neurology·2020· 34 citedOpen Access
Longitudinal changes in clinical outcome measures in COL6-related dystrophies and LAMA2-related dystrophies
Neurology·2019· 52 citedOpen Access
Peripheral synucleinopathy in a <i>DJ1</i> patient with Parkinson disease, cataracts, and hearing loss
Neurology·2019· 15 citedOpen Access
Clinical findings in amyotrophic lateral sclerosis type 4 (S54.003)
Neurology·2019
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Frequent Co-authors

Kenneth H. Fischbeck(19), Christopher Grunseich(18), Angela Kokkinis(15), Ami Mankodi(9), Craig Blackstone(9), Ricardo H. Roda(8), Carsten G. Bönnemann(7), Sandra Donkervoort(7), M. Leach(6), Guida Landouré(5), Derek P. Narendra(5), Katherine G. Meilleur(5), Jahannaz Dastgir(5), Ke‐lian Chen(4), Tanya Lehky(4), Joseph A. Shrader(4), Carlo Rinaldi(4), Cornelis Blauwendraat(4), Debra Ehrlich(4), A. Reghan Foley(4)