Meet the team
Research
Publications
Talks
Posts
Contact
Light
Dark
Automatic
2
Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy
We described a severe cardiac phenotype caused by mutations in TMEM87B.
Yu HC
,
Coughlin CR
,
Geiger EA
,
Salvador BJ
,
Elias ER
,
Cavanaugh JL
,
Chatfield KC
,
Miyamoto SD
,
Shaikh TH
Cite
DOI
Low bone mineral density is a common finding in patients with homocystinuria
This study suggests that low BMD is common in both children and adults with HCU and that routine assessment of bone health in this patient population is warranted.
Weber DR
,
Coughlin C
,
Brodsky JL
,
Lindstrom K
,
Ficicioglu C
,
Kaplan P
,
Freehauf CL
,
Levine MA
Cite
DOI
Neurodevelopmental Outcome and Treatment Efficacy of Benzoate and Dextromethorphan in Siblings with Attenuated Nonketotic Hyperglycinemia
Early treatment with dextromethorphan and sodium benzoate sufficient to normalize plasma glycine levels is effective at improving outcome if used in children with attenuated disease with mutations providing residual activity and when started from the neonatal period.
Bjoraker KJ
,
Swanson MA
,
Coughlin CR 2nd
,
Christodoulou J
,
Tan ES
,
Fergeson M
,
Dyack S
,
Ahmad A
,
Friederich MW
,
Spector EB
,
Creadon-Swindell G
,
Hodge MA
,
Gaughan S
,
Burns C
Cite
DOI
Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia
We describe clinical findings that can be used predict the clinical outcome in patients with NKH
Swanson MA
,
Coughlin CR Jr
,
Scharer GH
,
Szerlong HJ
,
Bjoraker KJ
,
Spector EB
,
Creadon-Swindell G
,
Mahieu V
,
Matthijs G
,
Hennermann JB
,
Applegarth DA
,
Toone JR
,
Tong S
,
Williams K
,
Van Hove JL.
Cite
DOI
Triple therapy with pyridoxine, arginine supplementation and dietary lysine restriction in pyridoxine-dependent epilepsy: Neurodevelopmental outcome
This observational study reports the use of triple therapy, which combines three effective components in this rare condition, and suggests that early diagnosis and treatment with this new triple therapy may ameliorate the cognitive impairment in PDE.
Coughlin CR 2nd
,
van Karnebeek CD
,
Al-Hertani W
,
Shuen AY
,
Jaggumantri S
,
Jack RM
,
Gaughan S
,
Burns C
,
Mirsky DM
,
Gallagher RC
,
Van Hove JL.
Cite
DOI
Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder
This article describes a novel mitochondrial translational defect
Coughlin CR 2nd
,
Scharer GH
,
Friederich MW
,
Yu HC
,
Geiger EA
,
Creadon-Swindell G
,
Collins AE
,
Vanlander AV
,
Coster RV
,
Powell CA
,
Swanson MA
,
Minczuk M
,
Van Hove JL.
,
Shaikh TH
Cite
DOI
Clinical and biochemical characterization of four patients with mutations in ECHS1
We report four patients with mutations in ECHS1 In addition to the clinical phentoype including aLeigh-like presentation, we report the underlying bioenergetics of the disorder.
Ferdinandusse S
,
Friederich MW
,
Burlina A
,
Ruiter JP
,
Coughlin CR 2nd
,
Dishop MK
,
Gallagher RC
,
Bedoyan JK
,
Vaz FM
,
Waterham HR
,
Gowan K
,
Chatfield K
,
Bloom K
,
Bennett MJ
,
Elpeleg O
,
Van Hove JL.
,
Wanders RJ
Cite
DOI
Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing
This study provides evidence of abnormal mitochondrial RNA processing causing mitochondrial energy failure in HSD10 disease.
Chatfield KC
,
Coughlin CR 2nd
,
Friederich MW
,
Gallagher RC
,
Hesselberth JR
,
Lovell MA
,
Ofman R
,
Swanson MA
,
Thomas JA
,
Wanders RJ
,
Wartchow EP
,
Van Hove JL.
Cite
DOI
Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations
The international PDE Consortium developed a recommendation for a lysine-restricted diet in PDE, with the aim of standardizing its implementation and monitoring of patients.
van Karnebeek CD
,
Stockler-Ipsiroglu S
,
Jaggumantri S
,
Assmann B
,
Baxter P
,
Buhas D
,
Bok LA
,
Cheng B
,
Coughlin CR 2nd
,
Das AM
,
Giezen A
,
Al-Hertani W
,
Ho G
,
Meyer U
,
Mills P
,
Plecko B
,
Struys E
,
Ueda K
,
Albersen M
,
Verhoeven N
,
Gospe SM Jr
,
Gallagher RC
,
Van Hove JK
,
Hartmann H
Cite
DOI
Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.
In patients with atypical NKH, mutations were identified in the genes for lipoate synthase (LIAS), BolA type 3 (BOLA3), and a novel gene glutaredoxin 5 (GLRX5)
Baker PR 2nd
,
Friederich MW
,
Swanson MA
,
Shaikh T
,
Bhattacharya K
,
Scharer GH
,
Aicher J
,
Creadon-Swindell G
,
Geiger E
,
MacLean KN
,
Lee WT
,
Deshpande C
,
Freckmann ML
,
Shih LY
,
Wasserstein M
,
Rasmussen MB
,
Lund AM
,
Procopis P
,
Cameron JM
,
Robinson BH
,
Brown GK
,
Brown RM
,
Compton AG
,
Dieckmann CL
,
Collard R
,
Coughlin CR 2nd
,
Spector E
,
Wempe MF
,
Van Hove JL.
Cite
DOI
«
»
Cite
×