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Genetics in Medicine (9)
Nature Neuroscience (2)
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Showing 1–13 of 13 results

Advanced filters: Author: Lea M. D. Wenger Clear advanced filters

An implantable system to restore hemodynamic stability after spinal cord injury

A purpose-built implantable system based on biomimetic epidural electrical stimulation of the spinal cord reduces the severity of hypotensive complications in people with spinal cord injury and improves quality of life.

Aaron A. Phillips
Aasta P. Gandhi
Grégoire Courtine
ResearchOpen Access17 Sept 2025
Nature Medicine

Volume: 31, P: 2946-2957
Human ALS/FTD brain organoid slice cultures display distinct early astrocyte and targetable neuronal pathology

By developing a long-term ALS/FTD patient-specific iPSC-derived organoid model that recapitulates mature cortical cell types, the authors pinpoint early selective molecular pathologies at single-cell resolution and a druggable neuronal vulnerability.

Kornélia Szebényi
Léa M. D. Wenger
András Lakatos
ResearchOpen Access21 Oct 2021
Nature Neuroscience

Volume: 24, P: 1542-1554
Cholesterol Ester and Triglyceride Metabolism in Intact Fibroblasts from Patients with Wolman's Disease and Cholesterol Ester Storage Disease

Barbara K Burton
Wanda T Remy
Lea Rayman
Research01 Dec 1984
Pediatric Research

Volume: 18, P: 1242-1245
Cerebral organoids at the air–liquid interface generate diverse nerve tracts with functional output

A modified brain-organoid culture generates extensive axon outgrowth with specific tract-like patterns. Organoid tracts connect neurons across distant sites and can innervate and stimulate co-cultured mouse spinal cord tissue to elicit muscle contractions.

Stefano L. Giandomenico
Susanna B. Mierau
Madeline A. Lancaster
Research18 Mar 2019
Nature Neuroscience

Volume: 22, P: 669-679
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

Sacha Ferdinandusse
Kirsty McWalter
Frédéric M. Vaz
ResearchOpen Access26 Nov 2020
Genetics in Medicine

Volume: 23, P: 740-750
Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

Felix Marbach
Georgi Stoyanov
Christian P. Schaaf
ResearchOpen Access08 Apr 2021
Genetics in Medicine

Volume: 23, P: 1465-1473
Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11

Thomas A. Ravenscroft
Jennifer B. Phillips
Hugo J. Bellen
Research10 Jun 2021
Genetics in Medicine

Volume: 23, P: 1889-1900
Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

Shilpa Nadimpalli Kobren
Dustin Baldridge
Isaac S. Kohane
ResearchOpen Access12 Feb 2021
Genetics in Medicine

Volume: 23, P: 1075-1085
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

Lance H. Rodan
Rebecca C. Spillmann
Vandana Shashi
Research23 Jun 2021
Genetics in Medicine

Volume: 23, P: 1922-1932
Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science

Kelly Schoch
Cecilia Esteves
Vandana Shashi
Research23 Oct 2020
Genetics in Medicine

Volume: 23, P: 259-271
Newborn screening for Krabbe disease in New York State: the first eight years’ experience

Joseph J. Orsini
Denise M. Kay
Michele Caggana
Research21 Jan 2016
Genetics in Medicine

Volume: 18, P: 239-248
Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

Lance H. Rodan
Rebecca C. Spillmann
Vandana Shashi
Amendments and Corrections14 Sept 2021
Genetics in Medicine

Volume: 23, P: 2016
Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

Sacha Ferdinandusse
Kirsty McWalter
Frédéric M. Vaz
Amendments and CorrectionsOpen Access19 Oct 2021
Genetics in Medicine

Volume: 23, P: 2467

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An implantable system to restore hemodynamic stability after spinal cord injury

Human ALS/FTD brain organoid slice cultures display distinct early astrocyte and targetable neuronal pathology

Cholesterol Ester and Triglyceride Metabolism in Intact Fibroblasts from Patients with Wolman's Disease and Cholesterol Ester Storage Disease

Cerebral organoids at the air–liquid interface generate diverse nerve tracts with functional output

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science

Newborn screening for Krabbe disease in New York State: the first eight years’ experience

Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

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