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Search life-sciences literature (45,100,050 articles, preprints and more)

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HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal model.
Dofash LNH, Miles LB, Saito Y, Rivas E, Calcinotto V, Oveissi S, Serrano RJ, Templin R, Ramm G, Rodger A, Haywood J, Ingley E, Clayton JS, Taylor RL, Folland CL, Groth D, Hock DH, Stroud DA, Gorokhova S, [...] Ravenscroft G
Brain, awae371, 12 Nov 2024
Cited by: 0 articles | PMID: 39531736
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Author Correction: A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry.
Cortese A, Beecroft SJ, Facchini S, Curro R, Cabrera-Serrano M, Stevanovski I, Chintalaphani SR, Gamaarachchi H, Weisburd B, Folland C, Monahan G, Scriba CK, Dofash L, Johari M, Grosz BR, Ellis M, Fearnley LG, Tankard R, Read J, [...] Ravenscroft G
Nat Commun, 15(1):8955, 17 Oct 2024
Cited by: 0 articles | PMID: 39419991 | PMCID: PMC11487183
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Genetics of inherited peripheral neuropathies and the next frontier: looking backwards to progress forwards.
Parmar JM, Laing NG, Kennerson ML, Ravenscroft G
J Neurol Neurosurg Psychiatry, 95(11):992-1001, 16 Oct 2024
Cited by: 2 articles | PMID: 38744462 | PMCID: PMC11503175
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This article is in the Europe PMC Open access subset. Refer to the copyright information in the article for licensing details.
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A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry.
Cortese A, Beecroft SJ, Facchini S, Curro R, Cabrera-Serrano M, Stevanovski I, Chintalaphani SR, Gamaarachchi H, Weisburd B, Folland C, Monahan G, Scriba CK, Dofash L, Johari M, Grosz BR, Ellis M, Fearnley LG, Tankard R, Read J, [...] Ravenscroft G
Nat Commun, 15(1):6327, 27 Jul 2024
Cited by: 3 articles | PMID: 39068203 | PMCID: PMC11283466
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A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus.
Pellerin D, Del Gobbo GF, Couse M, Dolzhenko E, Nageshwaran SK, Cheung WA, Xu IRL, Dicaire MJ, Spurdens G, Matos-Rodrigues G, Stevanovski I, Scriba CK, Rebelo A, Roth V, Wandzel M, Bonnet C, Ashton C, Agarwal A, Peter C, [...] Danzi MC
Nat Genet, 56(7):1366-1370, 27 Jun 2024
Cited by: 3 articles | PMID: 38937606
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Generation of iPSC lines from three Laing distal myopathy patients with a recurrent MYH7 p.Lys1617del variant.
Clayton JS, Vo C, Crane J, Scriba CK, Saker S, Larmonier T, Malfatti E, Romero NB, Ravenscroft G, Laing NG, Taylor RL
Stem Cell Res, 80:103491, 09 Jul 2024
Cited by: 0 articles | PMID: 39047410
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Biallelic variants inARHGAP19cause a motor-predominant neuropathy with asymmetry and conduction slowing
Dominik N, Efthymiou S, Record CJ, Miao X, Lin R, Parmar J, Scardamaglia A, Maroofian R, Aughey G, Wilson A, Lowe S, Curro R, Schnekenberg RP, Alavi S, Leclaire L, He Y, Zhelchenska K, Bellaiche Y, Gaugué I, [...] Houlden H
medRxiv, 14 May 2024
Cited by: 0 articles | PPR: PPR852390
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Generation of two iPSC lines from adult central core disease patients with dominant missense variants in the RYR1 gene.
Clayton JS, Vo C, Crane J, Scriba CK, Saker S, Larmonier T, Malfatti E, Romero NB, Ravenscroft G, Laing NG, Taylor RL
Stem Cell Res, 77:103411, 31 Mar 2024
Cited by: 0 articles | PMID: 38582058
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Generation of two iPSC lines from patients with inherited central core disease and concurrent malignant hyperthermia caused by dominant missense variants in the RYR1 gene.
Clayton JS, Vo C, Crane J, Scriba CK, Saker S, Larmonier T, Malfatti E, Romero NB, Ravenscroft G, Laing NG, Taylor RL
Stem Cell Res, 77:103410, 30 Mar 2024
Cited by: 0 articles | PMID: 38583293
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Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease.
Donkervoort S, van de Locht M, Ronchi D, Reunert J, McLean CA, Zaki M, Orbach R, de Winter JM, Conijn S, Hoomoedt D, Neto OLA, Magri F, Viaene AN, Foley AR, Gorokhova S, Bolduc V, Hu Y, Acquaye N, Napoli L, [...] Ottenheijm CAC
Sci Transl Med, 16(741):eadg2841, 03 Apr 2024
Cited by: 1 article | PMID: 38569017
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Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease.
Lemire G, Sanchis-Juan A, Russell K, Baxter S, Chao KR, Singer-Berk M, Groopman E, Wong I, England E, Goodrich J, Pais L, Austin-Tse C, DiTroia S, O'Heir E, Ganesh VS, Wojcik MH, Evangelista E, Snow H, Osei-Owusu I, [...] O'Donnell-Luria A
Am J Hum Genet, 111(5):863-876, 01 Apr 2024
Cited by: 0 articles | PMID: 38565148 | PMCID: PMC11080278
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Ablation of the carboxy-terminal end of MAMDC2 causes a distinct muscular dystrophy.
Mavillard F, Servian-Morilla E, Dofash L, Rojas-Marcos I, Folland C, Monahan G, Gutierrez-Gutierrez G, Rivas E, Hernández-Lain A, Valladares A, Cantero G, Morales JM, Laing NG, Paradas C, Ravenscroft G, Cabrera-Serrano M
Brain, 146(12):5235-5248, 01 Dec 2023
Cited by: 2 articles | PMID: 37503746
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Generation of two induced pluripotent stem cell lines from a 33-year-old central core disease patient with a heterozygous dominant c.14145_14156delCTACTGGGACA (p.Asn4715_Asp4718del) deletion in the RYR1 gene.
Driver K, Vo C, Scriba CK, Saker S, Larmonier T, Malfatti E, Romero NB, Ravenscroft G, Laing NG, Taylor RL, Clayton JS
Stem Cell Res, 73:103258, 22 Nov 2023
Cited by: 0 articles | PMID: 38029555
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A recurrent ACTA1 amino acid change in mosaic form causes milder asymmetric myopathy.
Lehtokari VL, Sagath L, Davis M, Ho D, Kiiski K, Kettunen K, Demczko M, Stein R, Vatta M, Winder TL, Shohet A, Orenstein N, Krcho P, Bohuš P, Huovinen S, Udd B, Pelin K, Laing NG, Wallgren-Pettersson C
Neuromuscul Disord, 34:32-40, 30 Nov 2023
Cited by: 1 article | PMID: 38142473
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Biallelic variants inHMGCS1are a novel cause of rare rigid spine syndrome
Dofash LN, Miles LB, Saito Y, Rivas E, Calcinotto V, Oveissi S, Serrano RJ, Templin R, Ramm G, Rodger A, Haywood J, Ingley E, Clayton JS, Taylor RL, Folland CL, Groth D, Hock DH, Stroud DA, Gorokhova S, [...] Ravenscroft G
medRxiv, 28 Oct 2023
Cited by: 0 articles | PPR: PPR749734
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A CCG expansion inABCD3causes oculopharyngodistal myopathy in individuals of European ancestry
Cortese A, Beecroft SJ, Facchini S, Curro R, Cabrera-Serrano M, Stevanovski I, Chintalaphani S, Gamaarachchi H, Weisburd B, Folland C, Monahan G, Scriba CK, Dofash L, Johari M, Grosz BR, Ellis M, Fearnley LG, Tankard R, Read J, [...] Ravenscroft G
medRxiv, 10 Oct 2023
Cited by: 0 articles | PPR: PPR739701
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Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease
Lemire G, Sanchis-Juan A, Russell K, Baxter S, Chao KR, Singer-Berk M, Groopman E, Wong I, England E, Goodrich J, Pais L, Austin-Tse C, DiTroia S, O’Heir E, Ganesh VS, Wojcik MH, Evangelista E, Snow H, Osei-Owusu I, [...] O’Donnell-Luria A
medRxiv, 05 Oct 2023
Cited by: 0 articles | PPR: PPR737394
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RFC1 in an Australasian neurological disease cohort: extending the genetic heterogeneity and implications for diagnostics.
Scriba CK, Stevanovski I, Chintalaphani SR, Gamaarachchi H, Ghaoui R, Ghia D, Henderson RD, Jordan N, Winkel A, Lamont PJ, Rodrigues MJ, Roxburgh RH, Weisburd B, Laing NG, Deveson IW, Davis MR, Ravenscroft G
Brain Commun, 5(4):fcad208, 25 Jul 2023
Cited by: 3 articles | PMID: 37621409 | PMCID: PMC10445415
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A common flanking variant is associated with enhanced meiotic stability of theFGF14-SCA27B locus
Pellerin D, Gobbo GD, Couse M, Dolzhenko E, Dicaire M, Rebelo A, Roth V, Wandzel M, Bonnet C, Ashton C, Lamont PJ, Laing NG, Renaud M, Ravenscroft G, Houlden H, Synofzik M, Eberle MA, Boycott KM, Pastinen T, [...] Danzi MC
bioRxiv, 14 May 2023
Cited by: 0 articles | PPR: PPR660004
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Expanding the phenotype of DNMT3A as a cause a congenital myopathy with rhabdomyolysis.
Ghaoui R, Ha TT, Kerkhof J, McConkey H, Gao S, Babic M, King R, Ravenscroft G, Koszyca B, Otto S, Laing NG, Scott H, Sadikovic B, Kassahn KS
Neuromuscul Disord, 33(6):484-489, 04 Apr 2023
Cited by: 1 article | PMID: 37209493
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A KLHL40 3' UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism.
Dofash LNH, Monahan GV, Servián-Morilla E, Rivas E, Faiz F, Sullivan P, Oates E, Clayton J, Taylor RL, Davis MR, Beilharz T, Laing NG, Cabrera-Serrano M, Ravenscroft G
Hum Mol Genet, 32(7):1127-1136, 01 Mar 2023
Cited by: 3 articles | PMID: 36322148
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A novel phenotype of AChR-deficiency syndrome with predominant facial and distal weakness resulting from the inclusion of an evolutionary alternatively-spliced exon in CHRNA1.
Rodríguez Cruz PM, Ravenscroft G, Natera D, Carr A, Manzur A, Liu WW, Vella NR, Jericó I, Gonzalez-Quereda L, Gallano P, Montalto SA, Davis MR, Lamont PJ, Laing NG, Bourque P, Nascimento A, Muntoni F, Polavarapu K, Lochmüller H, [...] Beeson D
Neuromuscul Disord, 33(2):161-168, 22 Dec 2022
Cited by: 1 article | PMID: 36634413
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STRling: a k-mer counting approach that detects short tandem repeat expansions at known and novel loci.
Dashnow H, Pedersen BS, Hiatt L, Brown J, Beecroft SJ, Ravenscroft G, LaCroix AJ, Lamont P, Roxburgh RH, Rodrigues MJ, Davis M, Mefford HC, Laing NG, Quinlan AR
Genome Biol, 23(1):257, 14 Dec 2022
Cited by: 21 articles | PMID: 36517892 | PMCID: PMC9753380
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Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia.
Pellerin D, Danzi MC, Wilke C, Renaud M, Fazal S, Dicaire MJ, Scriba CK, Ashton C, Yanick C, Beijer D, Rebelo A, Rocca C, Jaunmuktane Z, Sonnen JA, Larivière R, Genís D, Molina Porcel L, Choquet K, Sakalla R, [...] Brais B
N Engl J Med, 388(2):128-141, 14 Dec 2022
Cited by: 61 articles | PMID: 36516086 | PMCID: PMC10042577
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The Australian Reproductive Genetic Carrier Screening Project (Mackenzie's Mission): Design and Implementation.
Archibald AD, McClaren BJ, Caruana J, Tutty E, King EA, Halliday JL, Best S, Kanga-Parabia A, Bennetts BH, Cliffe CC, Madelli EO, Ho G, Liebelt J, Long JC, Braithwaite J, Kennedy J, Massie J, Emery JD, McGaughran J, [...] The Mackenzie's Mission Study Team
J Pers Med, 12(11):1781, 28 Oct 2022
Cited by: 13 articles | PMID: 36579509 | PMCID: PMC9698511
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1-25 of 309 results

1 2 3 Next ...

Search life-sciences literature (45,100,050 articles, preprints and more)

Search results

HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal model.

Author Correction: A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry.

Genetics of inherited peripheral neuropathies and the next frontier: looking backwards to progress forwards.

A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry.

A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus.

Generation of iPSC lines from three Laing distal myopathy patients with a recurrent MYH7 p.Lys1617del variant.

Biallelic variants inARHGAP19cause a motor-predominant neuropathy with asymmetry and conduction slowing

Generation of two iPSC lines from adult central core disease patients with dominant missense variants in the RYR1 gene.

Generation of two iPSC lines from patients with inherited central core disease and concurrent malignant hyperthermia caused by dominant missense variants in the RYR1 gene.

Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease.

Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease.

Ablation of the carboxy-terminal end of MAMDC2 causes a distinct muscular dystrophy.

Generation of two induced pluripotent stem cell lines from a 33-year-old central core disease patient with a heterozygous dominant c.14145_14156delCTACTGGGACA (p.Asn4715_Asp4718del) deletion in the RYR1 gene.

A recurrent ACTA1 amino acid change in mosaic form causes milder asymmetric myopathy.

Biallelic variants inHMGCS1are a novel cause of rare rigid spine syndrome

A CCG expansion inABCD3causes oculopharyngodistal myopathy in individuals of European ancestry

Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease

RFC1 in an Australasian neurological disease cohort: extending the genetic heterogeneity and implications for diagnostics.

A common flanking variant is associated with enhanced meiotic stability of theFGF14-SCA27B locus

Expanding the phenotype of DNMT3A as a cause a congenital myopathy with rhabdomyolysis.

A KLHL40 3' UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism.

A novel phenotype of AChR-deficiency syndrome with predominant facial and distal weakness resulting from the inclusion of an evolutionary alternatively-spliced exon in CHRNA1.

STRling: a k-mer counting approach that detects short tandem repeat expansions at known and novel loci.

Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia.

The Australian Reproductive Genetic Carrier Screening Project (Mackenzie's Mission): Design and Implementation.

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