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Items: 1 to 50 of 514

1.

Glycomics in rare diseases: from diagnosis to mechanism.

Davids M, Kane MS, Wolfe LA, Toro C, Tifft CJ, Adams D, Li X, Raihan MA, He M, Gahl WA, Boerkoel CF, Malicdan MCV.

Transl Res. 2018 Oct 23. pii: S1931-5244(18)30188-9. doi: 10.1016/j.trsl.2018.10.005. [Epub ahead of print]

PMID:
30423312
2.

Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay.

Morimoto M, Waller-Evans H, Ammous Z, Song X, Strauss KA, Pehlivan D, Gonzaga-Jauregui C, Puffenberger EG, Holst CR, Karaca E, Brigatti KW, Maguire E, Coban-Akdemir ZH, Amagata A, Lau CC, Chepa-Lotrea X, Macnamara E, Tos T, Isikay S, Nehrebecky M, Overton JD, Klein M, Markello TC, Posey JE, Adams DR, Lloyd-Evans E, Lupski JR, Gahl WA, Malicdan MCV.

Am J Hum Genet. 2018 Nov 1;103(5):794-807. doi: 10.1016/j.ajhg.2018.09.014. Epub 2018 Oct 25.

PMID:
30401460
3.

Expanding the phenotype of COPA syndrome: a kindred with typical and atypical features.

Taveira-DaSilva AM, Markello TC, Kleiner DE, Jones AM, Groden C, Macnamara E, Yokoyama T, Gahl WA, Gochuico BR, Moss J.

J Med Genet. 2018 Nov 1. pii: jmedgenet-2018-105560. doi: 10.1136/jmedgenet-2018-105560. [Epub ahead of print]

4.

Severe bleeding with subclinical oculocutaneous albinism in a patient with a novel HPS6 missense variant.

Han CG, O'Brien KJ, Coon LM, Majerus JA, Huryn LA, Haroutunian SG, Moka N, Introne WJ, Macnamara E, Gahl WA, Malicdan MCV, Chen D, Krishnan K, Gochuico BR.

Am J Med Genet A. 2018 Oct 4:e40514. doi: 10.1002/ajmg.a.40514. [Epub ahead of print]

PMID:
30369044
5.

Early infantile onset epileptic encephalopathy 28 due to a homozygous microdeletion involving the WWOX gene in a region of uniparental disomy.

Davids M, Markello T, Wolfe LA, Chepa-Lotrea X, Tifft CJ, Gahl WA, Malicdan MC.

Hum Mutat. 2018 Oct 25. doi: 10.1002/humu.23675. [Epub ahead of print]

PMID:
30362252
6.

Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease.

Splinter K, Adams DR, Bacino CA, Bellen HJ, Bernstein JA, Cheatle-Jarvela AM, Eng CM, Esteves C, Gahl WA, Hamid R, Jacob HJ, Kikani B, Koeller DM, Kohane IS, Lee BH, Loscalzo J, Luo X, McCray AT, Metz TO, Mulvihill JJ, Nelson SF, Palmer CGS, Phillips JA 3rd, Pick L, Postlethwait JH, Reuter C, Shashi V, Sweetser DA, Tifft CJ, Walley NM, Wangler MF, Westerfield M, Wheeler MT, Wise AL, Worthey EA, Yamamoto S, Ashley EA; Undiagnosed Diseases Network.

N Engl J Med. 2018 Oct 10. doi: 10.1056/NEJMoa1714458. [Epub ahead of print]

7.

A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.

Ferreira CR, Xia ZJ, Clément A, Parry DA, Davids M, Taylan F, Sharma P, Turgeon CT, Blanco-Sánchez B, Ng BG, Logan CV, Wolfe LA, Solomon BD, Cho MT, Douglas G, Carvalho DR, Bratke H, Haug MG, Phillips JB, Wegner J, Tiemeyer M, Aoki K; Undiagnosed Diseases Network; Scottish Genome Partnership, Nordgren A, Hammarsjö A, Duker AL, Rohena L, Hove HB, Ek J, Adams D, Tifft CJ, Onyekweli T, Weixel T, Macnamara E, Radtke K, Powis Z, Earl D, Gabriel M, Russi AHS, Brick L, Kozenko M, Tham E, Raymond KM, Phillips JA 3rd, Tiller GE, Wilson WG, Hamid R, Malicdan MCV, Nishimura G, Grigelioniene G, Jackson A, Westerfield M, Bober MB, Gahl WA, Freeze HH.

Am J Hum Genet. 2018 Oct 4;103(4):553-567. doi: 10.1016/j.ajhg.2018.09.003.

PMID:
30290151
8.

Clinical and Histopathologic Features of Interstitial Lung Disease in Erdheim⁻Chester Disease.

Haroutunian SG, O'Brien KJ, Estrada-Veras JI, Yao J, Boyd LC, Mathur K, Gahl WA, Mirmomen SM, Malayeri AA, Kleiner DE, Jaffe ES, Gochuico BR.

J Clin Med. 2018 Aug 28;7(9). pii: E243. doi: 10.3390/jcm7090243.

9.

Alström syndrome: Renal findings in correlation with obesity, insulin resistance, dyslipidemia and cardiomyopathy in 38 patients prospectively evaluated at the NIH clinical center.

Waldman M, Han JC, Reyes-Capo DP, Bryant J, Carson KA, Turkbey B, Choyke P, Naggert JK, Gahl WA, Marshall JD, Gunay-Aygun M.

Mol Genet Metab. 2018 Sep;125(1-2):181-191. doi: 10.1016/j.ymgme.2018.07.010. Epub 2018 Jul 24.

PMID:
30064963
10.

Prolonged treatment with open-label pirfenidone in Hermansky-Pudlak syndrome pulmonary fibrosis.

O'Brien KJ, Introne WJ, Akal O, Akal T, Barbu A, McGowan MP, Merideth MA, Seward SL Jr, Gahl WA, Gochuico BR.

Mol Genet Metab. 2018 Sep;125(1-2):168-173. doi: 10.1016/j.ymgme.2018.07.012. Epub 2018 Jul 23.

PMID:
30055995
11.

Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center.

Brooks BP, Zein WM, Thompson AH, Mokhtarzadeh M, Doherty DA, Parisi M, Glass IA, Malicdan MC, Vilboux T, Vemulapalli M, Mullikin JC, Gahl WA, Gunay-Aygun M.

Ophthalmology. 2018 Jul 25. pii: S0161-6420(18)30686-9. doi: 10.1016/j.ophtha.2018.05.026. [Epub ahead of print]

12.

Hermansky-Pudlak syndrome with a novel genetic variant in HPS1 and subsequent accelerated pulmonary fibrosis: significance for phenocopy diseases.

McElvaney OJ, Huizing M, Gahl WA, O'Donovan P, Horan D, Logan PM, Reeves EP, McElvaney NG.

Thorax. 2018 Nov;73(11):1085-1088. doi: 10.1136/thoraxjnl-2018-211920. Epub 2018 Jun 25.

PMID:
29941477
13.

De novo ATP1A3 and compound heterozygous NLRP3 mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndrome.

Torres A, Brownstein CA, Tembulkar SK, Graber K, Genetti C, Kleiman RJ, Sweadner KJ, Mavros C, Liu KX, Smedemark-Margulies N, Maski K, Yang E, Agrawal PB, Shi J, Beggs AH, D'Angelo E, Lincoln SH, Carroll D, Dedeoglu F, Gahl WA, Biggs CM, Swoboda KJ, Berry GT, Gonzalez-Heydrich J.

Mol Genet Metab Rep. 2018 Jun 15;16:23-29. doi: 10.1016/j.ymgmr.2018.06.001. eCollection 2018 Sep.

14.

Skeletal Consequences of Nephropathic Cystinosis.

Florenzano P, Ferreira C, Nesterova G, Roberts MS, Tella SH, de Castro LF, Brown SM, Whitaker A, Pereira RC, Bulas D, Gafni RI, Salusky IB, Gahl WA, Collins MT.

J Bone Miner Res. 2018 Oct;33(10):1870-1880. doi: 10.1002/jbmr.3522. Epub 2018 Jul 20.

PMID:
29905968
15.

Neurodegeneration as the presenting symptom in 2 adults with xeroderma pigmentosum complementation group F.

Shanbhag NM, Geschwind MD, DiGiovanna JJ, Groden C, Godfrey R, Yousefzadeh MJ, Wade EA, Niedernhofer LJ, Malicdan MCV, Kraemer KH, Gahl WA, Toro C.

Neurol Genet. 2018 Jun 8;4(3):e240. doi: 10.1212/NXG.0000000000000240. eCollection 2018 Jun.

16.

Deoxysphingolipid precursors indicate abnormal sphingolipid metabolism in individuals with primary and secondary disturbances of serine availability.

Ferreira CR, Goorden SMI, Soldatos A, Byers HM, Ghauharali-van der Vlugt JMM, Beers-Stet FS, Groden C, van Karnebeek CD, Gahl WA, Vaz FM, Jiang X, Vernon HJ.

Mol Genet Metab. 2018 Jul;124(3):204-209. doi: 10.1016/j.ymgme.2018.05.001. Epub 2018 May 7.

PMID:
29789193
17.

Cortical atrophy and hypofibrinogenemia due to FGG and TBCD mutations in a single family: a case report.

Stephen J, Nampoothiri S, Vinayan KP, Yesodharan D, Remesh P, Gahl WA, Malicdan MCV.

BMC Med Genet. 2018 May 16;19(1):80. doi: 10.1186/s12881-018-0597-6.

18.

Thoracic involvement in Erdheim-Chester disease: computed tomography imaging findings and their association with the BRAFV600E mutation.

Mirmomen SM, Sirajuddin A, Nikpanah M, Symons R, Paschall AK, Papageorgiou I, Gahl WA, O'Brien K, Estrada-Veras JI, Malayeri AA.

Eur Radiol. 2018 May 7. doi: 10.1007/s00330-018-5421-3. [Epub ahead of print]

PMID:
29736852
19.

Comprehensive Endocrine-Metabolic Evaluation of Patients With Alström Syndrome Compared With BMI-Matched Controls.

Han JC, Reyes-Capo DP, Liu CY, Reynolds JC, Turkbey E, Turkbey IB, Bryant J, Marshall JD, Naggert JK, Gahl WA, Yanovski JA, Gunay-Aygun M.

J Clin Endocrinol Metab. 2018 Jul 1;103(7):2707-2719. doi: 10.1210/jc.2018-00496.

PMID:
29718281
20.

Loss of function mutations in VARS encoding cytoplasmic valyl-tRNA synthetase cause microcephaly, seizures, and progressive cerebral atrophy.

Stephen J, Nampoothiri S, Banerjee A, Tolman NJ, Penninger JM, Elling U, Agu CA, Burke JD, Devadathan K, Kannan R, Huang Y, Steinbach PJ, Martinis SA, Gahl WA, Malicdan MCV.

Hum Genet. 2018 Apr;137(4):293-303. doi: 10.1007/s00439-018-1882-3. Epub 2018 Apr 24.

PMID:
29691655
21.

Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure.

Reichold M, Klootwijk ED, Reinders J, Otto EA, Milani M, Broeker C, Laing C, Wiesner J, Devi S, Zhou W, Schmitt R, Tegtmeier I, Sterner C, Doellerer H, Renner K, Oefner PJ, Dettmer K, Simbuerger JM, Witzgall R, Stanescu HC, Dumitriu S, Iancu D, Patel V, Mozere M, Tekman M, Jaureguiberry G, Issler N, Kesselheim A, Walsh SB, Gale DP, Howie AJ, Martins JR, Hall AM, Kasgharian M, O'Brien K, Ferreira CR, Atwal PS, Jain M, Hammers A, Charles-Edwards G, Choe CU, Isbrandt D, Cebrian-Serrano A, Davies B, Sandford RN, Pugh C, Konecki DS, Povey S, Bockenhauer D, Lichter-Konecki U, Gahl WA, Unwin RJ, Warth R, Kleta R.

J Am Soc Nephrol. 2018 Jul;29(7):1849-1858. doi: 10.1681/ASN.2017111179. Epub 2018 Apr 13.

PMID:
29654216
22.

Quantification of lectin fluorescence in GNE myopathy muscle biopsies.

Leoyklang P, Class B, Noguchi S, Gahl WA, Carrillo N, Nishino I, Huizing M, Malicdan MC.

Muscle Nerve. 2018 Aug;58(2):286-292. doi: 10.1002/mus.26135. Epub 2018 Apr 23.

PMID:
29603301
23.

Oculogyric crises in PLA2G6 associated neurodegeneration.

Rohani M, Shahidi G, Vali F, Lang AE, Slow E, Gahl WA, Behnam B.

Parkinsonism Relat Disord. 2018 Jul;52:111-112. doi: 10.1016/j.parkreldis.2018.03.010. Epub 2018 Mar 17. No abstract available.

PMID:
29574084
24.

Abdominal involvement in Erdheim-Chester disease (ECD): MRI and CT imaging findings and their association with BRAFV600E mutation.

Nikpanah M, Kim L, Mirmomen SM, Symons R, Papageorgiou I, Gahl WA, O'Brien K, Estrada-Veras JI, Malayeri AA.

Eur Radiol. 2018 Sep;28(9):3751-3759. doi: 10.1007/s00330-018-5326-1. Epub 2018 Mar 19.

PMID:
29556768
25.

Urine oligosaccharide screening by MALDI-TOF for the identification of NGLY1 deficiency.

Hall PL, Lam C, Alexander JJ, Asif G, Berry GT, Ferreira C, Freeze HH, Gahl WA, Nickander KK, Sharer JD, Watson CM, Wolfe L, Raymond KM.

Mol Genet Metab. 2018 May;124(1):82-86. doi: 10.1016/j.ymgme.2018.03.002. Epub 2018 Mar 10.

PMID:
29550355
26.

Clinical management and outcomes of patients with Hermansky-Pudlak syndrome pulmonary fibrosis evaluated for lung transplantation.

El-Chemaly S, O'Brien KJ, Nathan SD, Weinhouse GL, Goldberg HJ, Connors JM, Cui Y, Astor TL, Camp PC Jr, Rosas IO, Lemma M, Speransky V, Merideth MA, Gahl WA, Gochuico BR.

PLoS One. 2018 Mar 16;13(3):e0194193. doi: 10.1371/journal.pone.0194193. eCollection 2018.

27.

A recurrent de novo missense mutation in UBTF causes developmental neuroregression.

Toro C, Hori RT, Malicdan MCV, Tifft CJ, Goldstein A, Gahl WA, Adams DR, Fauni HB, Wolfe LA, Xiao J, Khan MM, Tian J, Hope KA, Reiter LT, Tremblay MG, Moss T, Franks AL, Balak C; C4RCD Research Group, LeDoux MS.

Hum Mol Genet. 2018 Apr 1;27(7):1310. doi: 10.1093/hmg/ddy049. No abstract available.

28.

The Immunome in Two Inherited Forms of Pulmonary Fibrosis.

El-Chemaly S, Cheung F, Kotliarov Y, O'Brien KJ, Gahl WA, Chen J, Perl SY, Biancotto A, Gochuico BR.

Front Immunol. 2018 Jan 31;9:76. doi: 10.3389/fimmu.2018.00076. eCollection 2018.

29.

Galectin-3 Interacts with the CHI3L1 Axis and Contributes to Hermansky-Pudlak Syndrome Lung Disease.

Zhou Y, He CH, Yang DS, Nguyen T, Cao Y, Kamle S, Lee CM, Gochuico BR, Gahl WA, Shea BS, Lee CG, Elias JA.

J Immunol. 2018 Mar 15;200(6):2140-2153. doi: 10.4049/jimmunol.1701442. Epub 2018 Feb 2.

PMID:
29427412
30.

Disorders of metal metabolism.

Ferreira CR, Gahl WA.

Transl Sci Rare Dis. 2017 Dec 18;2(3-4):101-139. doi: 10.3233/TRD-170015. Review.

31.

Publisher Correction: Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome.

Li C, Brazill JM, Liu S, Bello C, Zhu Y, Morimoto M, Cascio L, Pauly R, Diaz-Perez Z, Malicdan MCV, Wang H, Boccuto L, Schwartz CE, Gahl WA, Boerkoel CF, Zhai RG.

Nat Commun. 2018 Jan 18;9(1):337. doi: 10.1038/s41467-017-02462-8.

32.

A recurrent de novo missense mutation in UBTF causes developmental neuroregression.

Toro C, Hori RT, Malicdan MCV, Tifft CJ, Goldstein A, Gahl WA, Adams DR, Fauni HB, Wolfe LA, Xiao J, Khan MM, Tian J, Hope KA, Reiter LT, Tremblay MG, Moss T, Franks AL, Balak C; C4RCD Research Group, LeDoux MS.

Hum Mol Genet. 2018 Feb 15;27(4):691-705. doi: 10.1093/hmg/ddx435. Erratum in: Hum Mol Genet. 2018 Apr 1;27(7):1310.

33.

Hypercementosis Associated with ENPP1 Mutations and GACI.

Thumbigere-Math V, Alqadi A, Chalmers NI, Chavez MB, Chu EY, Collins MT, Ferreira CR, FitzGerald K, Gafni RI, Gahl WA, Hsu KS, Ramnitz MS, Somerman MJ, Ziegler SG, Foster BL.

J Dent Res. 2018 Apr;97(4):432-441. doi: 10.1177/0022034517744773. Epub 2017 Dec 15.

PMID:
29244957
34.

An actin cytoskeletal barrier inhibits lytic granule release from natural killer cells in patients with Chediak-Higashi syndrome.

Gil-Krzewska A, Saeed MB, Oszmiana A, Fischer ER, Lagrue K, Gahl WA, Introne WJ, Coligan JE, Davis DM, Krzewski K.

J Allergy Clin Immunol. 2018 Sep;142(3):914-927.e6. doi: 10.1016/j.jaci.2017.10.040. Epub 2017 Dec 11.

35.

Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework.

Baynam G, Bowman F, Lister K, Walker CE, Pachter N, Goldblatt J, Boycott KM, Gahl WA, Kosaki K, Adachi T, Ishii K, Mahede T, McKenzie F, Townshend S, Slee J, Kiraly-Borri C, Vasudevan A, Hawkins A, Broley S, Schofield L, Verhoef H, Groza T, Zankl A, Robinson PN, Haendel M, Brudno M, Mattick JS, Dinger ME, Roscioli T, Cowley MJ, Olry A, Hanauer M, Alkuraya FS, Taruscio D, Posada de la Paz M, Lochmüller H, Bushby K, Thompson R, Hedley V, Lasko P, Mina K, Beilby J, Tifft C, Davis M, Laing NG, Julkowska D, Le Cam Y, Terry SF, Kaufmann P, Eerola I, Norstedt I, Rath A, Suematsu M, Groft SC, Austin CP, Draghia-Akli R, Weeramanthri TS, Molster C, Dawkins HJS.

Adv Exp Med Biol. 2017;1031:55-94. doi: 10.1007/978-3-319-67144-4_4. Review.

PMID:
29214566
36.

Undiagnosed Diseases: Italy-US Collaboration and International Efforts to Tackle Rare and Common Diseases Lacking a Diagnosis.

Taruscio D, Floridia G, Salvatore M, Groft SC, Gahl WA.

Adv Exp Med Biol. 2017;1031:25-38. doi: 10.1007/978-3-319-67144-4_2.

PMID:
29214564
37.

Cystinosis.

Nesterova G, Gahl WA.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2001 Mar 22 [updated 2017 Dec 7].

38.

Patients with rare diseases: from therapeutic orphans to pioneers of personalized treatments.

Klein C, Gahl WA.

EMBO Mol Med. 2018 Jan;10(1):1-3. doi: 10.15252/emmm.201708365. No abstract available.

39.

Lysosomal storage diseases.

Ferreira CR, Gahl WA.

Transl Sci Rare Dis. 2017 May 25;2(1-2):1-71. doi: 10.3233/TRD-160005. Review.

40.

Prospective Evaluation of Kidney Disease in Joubert Syndrome.

Fleming LR, Doherty DA, Parisi MA, Glass IA, Bryant J, Fischer R, Turkbey B, Choyke P, Daryanani K, Vemulapalli M, Mullikin JC, Malicdan MC, Vilboux T, Sayer JA, Gahl WA, Gunay-Aygun M.

Clin J Am Soc Nephrol. 2017 Dec 7;12(12):1962-1973. doi: 10.2215/CJN.05660517. Epub 2017 Nov 16.

PMID:
29146704
41.

Cover Image, Volume 173A, Number 12, December 2017.

Hardee I, Soldatos A, Davids M, Vilboux T, Toro C, David KL, Ferreira CR, Nehrebecky M, Snow J, Thurm A, Heller T, Macnamara EF, Gunay-Aygun M, Zein WM, Gahl WA, Malicdan MCV.

Am J Med Genet A. 2017 Dec;173(12):i. doi: 10.1002/ajmg.a.38548.

PMID:
29136352
42.

Biallelic mutations in mitochondrial tryptophanyl-tRNA synthetase cause Levodopa-responsive infantile-onset Parkinsonism.

Burke EA, Frucht SJ, Thompson K, Wolfe LA, Yokoyama T, Bertoni M, Huang Y, Sincan M, Adams DR, Taylor RW, Gahl WA, Toro C, Malicdan MCV.

Clin Genet. 2018 Mar;93(3):712-718. doi: 10.1111/cge.13172. Epub 2018 Feb 5.

43.

Characteristics of Liver Disease in 100 Individuals With Joubert Syndrome Prospectively Evaluated at a Single Center.

Strongin A, Heller T, Doherty D, Glass IA, Parisi MA, Bryant J, Choyke P, Turkbey B, Daryanani K, Yildirimli D, Vemulapalli M, Mullikin JC, Malicdan MC, Vilboux T, Gahl WA, Gunay-Aygun M; NISC Comparative Sequencing Program.

J Pediatr Gastroenterol Nutr. 2018 Mar;66(3):428-435. doi: 10.1097/MPG.0000000000001816.

PMID:
29112083
44.

Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome.

Li C, Brazill JM, Liu S, Bello C, Zhu Y, Morimoto M, Cascio L, Pauly R, Diaz-Perez Z, Malicdan MCV, Wang H, Boccuto L, Schwartz CE, Gahl WA, Boerkoel CF, Zhai RG.

Nat Commun. 2017 Nov 2;8(1):1257. doi: 10.1038/s41467-017-01289-7. Erratum in: Nat Commun. 2018 Jan 18;9(1):337.

45.

The curse of idiopathic.

O'Brien KJ, Gahl WA, Gochuico BR.

J Inherit Metab Dis. 2018 Jan;41(1):3-4. doi: 10.1007/s10545-017-0101-z. Epub 2017 Oct 27. No abstract available.

PMID:
29080035
46.

Hermansky-Pudlak Syndrome.

Huizing M, Malicdan MCV, Gochuico BR, Gahl WA.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2000 Jul 24 [updated 2017 Oct 26].

47.

Defective ciliogenesis in INPP5E-related Joubert syndrome.

Hardee I, Soldatos A, Davids M, Vilboux T, Toro C, David KL, Ferreira CR, Nehrebecky M, Snow J, Thurm A, Heller T, Macnamara EF, Gunay-Aygun M, Zein WM, Gahl WA, Malicdan MCV.

Am J Med Genet A. 2017 Dec;173(12):3231-3237. doi: 10.1002/ajmg.a.38376. Epub 2017 Oct 20.

PMID:
29052317
48.

A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency.

Malicdan MCV, Vilboux T, Ben-Zeev B, Guo J, Eliyahu A, Pode-Shakked B, Dori A, Kakani S, Chandrasekharappa SC, Ferreira CR, Shelestovich N, Marek-Yagel D, Pri-Chen H, Blatt I, Niederhuber JE, He L, Toro C, Taylor RW, Deeken J, Yardeni T, Wallace DC, Gahl WA, Anikster Y.

Hum Mutat. 2018 Jan;39(1):69-79. doi: 10.1002/humu.23345. Epub 2017 Nov 8.

PMID:
29044765
49.

A disease-associated mutation in the adhesion GPCR BAI2 (ADGRB2) increases receptor signaling activity.

Purcell RH, Toro C, Gahl WA, Hall RA.

Hum Mutat. 2017 Dec;38(12):1751-1760. doi: 10.1002/humu.23336. Epub 2017 Sep 20.

PMID:
28891236
50.

Late diagnosis and atypical brain imaging of Aicardi-Goutières syndrome: are we failing to diagnose Aicardi-Goutières syndrome-2?

Svingen L, Goheen M, Godfrey R, Wahl C, Baker EH, Gahl WA, Malicdan MCV, Toro C.

Dev Med Child Neurol. 2017 Dec;59(12):1307-1311. doi: 10.1111/dmcn.13509. Epub 2017 Aug 1.

PMID:
28762473

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