Florian Eichler

Also affiliated with Massachusetts General Hospital

Biochemistry, Genetics and Molecular BiologyMedicine

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 32 papers. Top paper: “Newborn screening in metachromatic leukodystrophy – European consensus-based recommendations on clinical management”.

Newborn screening in metachromatic leukodystrophy – European consensus-based recommendations on clinical management

European Journal of Paediatric Neurology(2024)10.1016/j.ejpn.2024.03.003

N/A

0.510DataRank · unranked

29 citations

Daphne H. Schoenmakers, Laura Adang, Stefanie Beck‐Woedl, Caroline Bergner, Geneviève Bernard +23 more

Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States

Cytotherapy(2024)10.1016/j.jcyt.2024.03.487

N/A

0.489DataRank · unranked

25 citations

Joshua L. Bonkowsky, Jaap Jan Boelens, Eric J. Mallack, Rebecca C. Ahrens‐Nicklas, John Bernat +27 more

Magnetic resonance imaging and spectroscopy in late-onset GM2-gangliosidosis

Molecular Genetics and Metabolism(2021)10.1016/j.ymgme.2021.06.008

N/A

0.464DataRank · unranked

21 citations

D. Rangaprakash, Akila Weerasekera, Neha Godbole, Elizabeth Haxton, Peter James +5 more

Feasibility of simultaneous high‐resolution anatomical and quantitative magnetic resonance imaging of sciatic nerves in patients with Charcot–Marie–Tooth type 1A (CMT1A) at 7T

Muscle & Nerve(2022)10.1002/mus.27647

N/A

0.416DataRank · unranked

15 citations

Olivia Rowe, Jason Stockmann, Daniel Park, Peter Lally, Matthew S. Rosen +5 more

A Longitudinal Analysis of Early Lesion Growth in Presymptomatic Patients with Cerebral Adrenoleukodystrophy

American Journal of Neuroradiology(2021)10.3174/ajnr.a7250

N/A

0DataRank · unranked

12 citations

Gülce Askin, Stephanie I. W. van de Stadt, Paul A. Caruso, Patricia L. Musolino, Marc Engelen +3 more

Metachromatic Leukodystrophy: A Case of Triplets With the Late Infantile Variant and a Systematic Review of the Literature

UNC Libraries(2021)10.17615/sf56-fx77

N/A

0DataRank · unranked

0 citations

Magdi M. Sobeih, David A. Wenger, Asif Mahmood, Maria L. Escolar, Gerald V. Raymond +2 more

International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy

Neurology(2022)10.1212/wnl.0000000000201374

N/A

0DataRank · unranked

142 citations

Wouter J. C. van Ballegoij, Eric J. Mallack, Keith Van Haren, Wolfgang Köhler, Ettore Salsano +23 more

The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15

Brain(2022)10.1093/brain/awac391

N/A

0DataRank · unranked

24 citations

Melanie Kellner, Catherine Jordan, Helena Rosengarten, Alisa Mo, Bo Zhang +29 more

Presymptomatic Lesion in Childhood Cerebral Adrenoleukodystrophy

Neurology(2022)10.1212/wnl.0000000000200571

N/A

0DataRank · unranked

16 citations

Keith Van Haren, Anna C Torrey, Stephanie I. W. van de Stadt, Marc Engelen, Gerald V. Raymond +3 more

Relationship between neurochemical concentrations and neurofunctional measures in late-onset GM2 gangliosidosis

medRxiv(2022)10.1101/2022.09.11.22279836

N/A

0DataRank · unranked

0 citations

Akila Weerasekera, Olivia Rowe, Christopher D. Stephen, Florian Eichler, Robert Barry +2 more

The landscape of functional brain network impairments in late-onset GM2 gangliosidosis

medRxiv(2022)10.1101/2022.09.11.22279835

N/A

0DataRank · unranked

0 citations

Olivia Rowe, Christopher D. Stephen, Florian Eichler, Eva‐Maria Ratai, Robert Barry +1 more

Biomarker-based risk prediction for the onset of neuroinflammation in X-linked adrenoleukodystrophy

EBioMedicine(2023)10.1016/j.ebiom.2023.104781

N/A

0DataRank · unranked

33 citations

Paulus Rommer, Andreas Gleiß, Markus Ponleitner, Bettina Zierfuss, Petra Waidhofer‐Söllner +21 more

Role of Basal Forebrain Neurons in Adrenomyeloneuropathy in Mice and Humans

Annals of Neurology(2023)10.1002/ana.26849

N/A

0DataRank · unranked

11 citations

Fiza Laheji, Anna Berenson, Yedda Li, Ann B. Moser, April Qian +6 more

Clinical and imaging predictors of late‐onset GM2 gangliosidosis: A scoping review

Annals of Clinical and Translational Neurology(2023)10.1002/acn3.51947

N/A

0DataRank · unranked

10 citations

Elizabeth Haxton, Olivia Rowe, Joseph J. Locascio, Jeremy D. Schmahmann, Florian Eichler +3 more

Early Detection of Adrenal Insufficiency: The Impact of Newborn Screening for Adrenoleukodystrophy

The Journal of Clinical Endocrinology & Metabolism(2023)10.1210/clinem/dgad286

N/A

0DataRank · unranked

9 citations

Natalie Grant, Swathi Sethuram, Amanda Nagy, Catherine Becker, Inderneel Sahai +4 more

Click editing enables programmable genome writing using DNA polymerases and HUH endonucleases

Nature Biotechnology(2024)10.1038/s41587-024-02324-x

N/A

0DataRank · unranked

65 citations

Connor J. Tou, Emily M. King, Madeline L. Eller, David Rufino‐Ramos, Linyuan Ma +7 more

Longitudinal natural history studies based on real-world data in rare diseases: Opportunity and a novel approach

Molecular Genetics and Metabolism(2024)10.1016/j.ymgme.2024.108453

N/A

0DataRank · unranked

25 citations

Anjana Sevagamoorthy, Omar Sherbini, Jamie L. Fraser, Joshua L. Bonkowsky, Francesco Gavazzi +18 more

Serine Palmitoyltransferase (SPT)-related Neurodegenerative and Neurodevelopmental Disorders

Journal of Neuromuscular Diseases(2024)10.3233/jnd-240014

N/A

0DataRank · unranked

9 citations

Meher Abdullah, Florian Eichler, Teresa Dunn, Payam Mohassel

Clinical outcome assessments of disease burden and progression in late-onset GM2 gangliosidoses

Molecular Genetics and Metabolism(2024)10.1016/j.ymgme.2024.108512

N/A

0DataRank · unranked

9 citations

Camille Rochmann, Pascal Minini, Florian Eichler, Christopher D. Stephen, Heather Lau +6 more

Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy

Molecular Genetics and Metabolism(2024)10.1016/j.ymgme.2024.108521

N/A

0DataRank · unranked

8 citations

Samuel Groeschel, Chloe Grzyb, Russell D’Aiello, Francesco Gavazzi, Omar Sherbini +43 more

Systemic complications of Aicardi Goutières syndrome using real-world data

Molecular Genetics and Metabolism(2024)10.1016/j.ymgme.2024.108578

N/A

0DataRank · unranked

8 citations

Amanda Jan, Nicholson Modesti, Sarah Woidill, Francesco Gavazzi, David Isaacs +14 more

The spectrum of neurological presentation in individuals affected by TBL1XR1 gene defects

Orphanet Journal of Rare Diseases(2024)10.1186/s13023-024-03083-3

N/A

0DataRank · unranked

5 citations

Francine Molay, Sarah Hargadon, Cláudia Brito Pires, Natalie Grant, Lizbeth De La Rosa Abreu +10 more

Characterizing visual processing deficits in cerebral adrenoleukodystrophy

Brain and Development(2024)10.1016/j.braindev.2024.09.008

N/A

0DataRank · unranked

3 citations

Melissa Bambery, Christopher R. Bennett, Amanda Nagy, Claire E. Manley, Ellen Winter +8 more

Urine N -Acetylaspartate Distinguishes Phenotypes in Canavan Disease

Human Gene Therapy(2024)10.1089/hum.2024.168

N/A

0DataRank · unranked

3 citations

Florian Eichler, Annette Bley, Jan Bredow, Alexander Fay, Elise L. Townsend +6 more

Development of an Infantile GM2 Clinical Rating Scale: Remote Assessment of Clinically Meaningful Health-Related Function

Journal of Child Neurology(2024)10.1177/08830738241246703

N/A

0DataRank · unranked

2 citations

Meg Simione, Florian Eichler, Elise L. Townsend, Michael Kiefer

Disease Burden in Female Patients With X-Linked Adrenoleukodystrophy

Neurology(2025)10.1212/wnl.0000000000213370

N/A

0DataRank · unranked

8 citations

Yedda Li, Lizbeth De La Rosa Abreu, Catherine Becker, Brian Wishart, Amanda Nagy +3 more

Brainstem Substructure Atrophy in Late-Onset GM2-Gangliosidosis Imaging Using Automated Segmentation

The Cerebellum(2025)10.1007/s12311-025-01803-4

N/A

0DataRank · unranked

1 citations

D. Rangaprakash, Florian Eichler, Jeremy D. Schmahmann, Robert Barry, Christopher D. Stephen +1 more

MRI surveillance of boys with X‐linked adrenoleukodystrophy identified by newborn screening: Meta‐analysis and consensus guidelines

Journal of Inherited Metabolic Disease(2020)10.1002/jimd.12356

N/A

0DataRank · unranked

80 citations

Bela R. Turk, Helena Yan, Carrie Price, Michelle Demetres, Ann B. Moser +18 more

Clinically Important Endpoints in Individuals With Leukodystrophy: A Multisite Study

Annals of the Child Neurology Society(2025)10.1002/cns3.70025

N/A

0DataRank · unranked

0 citations

Sarah Woidill, Russell D’Aiello, Amina Khan, Jacob McCann, Mark Ramos +27 more

Clinical and radiographic course of arrested cerebral adrenoleukodystrophy

Neurology(2020)10.1212/wnl.0000000000009626

N/A

0DataRank · unranked

33 citations

Stephanie I. W. van de Stadt, Paul A. Caruso, Patricia L. Musolino, Reza Sadjadi, Marc Engelen +2 more

Delineating the phenotypic spectrum of sulfite oxidase and molybdenum cofactor deficiency

Neurology Genetics(2020)10.1212/nxg.0000000000000486

N/A

0DataRank · unranked

24 citations

Ye Liang, Joshua B. Kohl, Florian Eichler, Albert Misko

Metabolic rerouting via SCD1 induction impacts X-linked adrenoleukodystrophy

Journal of Clinical Investigation(2021)10.1172/jci142500

N/A

0DataRank · unranked

39 citations

Malu-Clair van de Beek, Sonja Forss‐Petter, Inge M. E. Dijkstra, Abigail Deschiffart, Briana C. Freshner +12 more