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Items: 1 to 20 of 425

1.

Urogenital symptoms in mitochondrial disease: overlooked and undertreated.

Poole OV, Uchiyama T, Skorupinska I, Skorupinska M, Germain L, Kozyra D, Holmes S, James N, Bugiardini E, Woodward C, Quinlivan R, Emmanuel A, Hanna MG, Panicker JN, Pitceathly RDS.

Eur J Neurol. 2019 Mar 18. doi: 10.1111/ene.13952. [Epub ahead of print]

PMID:
30884027
2.

Community exercise is feasible for neuromuscular diseases and can improve aerobic capacity.

Wallace A, Pietrusz A, Dewar E, Dudziec M, Jones K, Hennis P, Sterr A, Baio G, Machado PM, Laurá M, Skorupinska I, Skorupinska M, Butcher K, Trenell M, Reilly MM, Hanna MG, Ramdharry GM.

Neurology. 2019 Mar 8. pii: 10.1212/WNL.0000000000007265. doi: 10.1212/WNL.0000000000007265. [Epub ahead of print]

PMID:
30850441
3.

Gene expression analysis reveals early dysregulation of disease pathways and links Chmp7 to pathogenesis of spinal and bulbar muscular atrophy.

Malik B, Devine H, Patani R, La Spada AR, Hanna MG, Greensmith L.

Sci Rep. 2019 Mar 5;9(1):3539. doi: 10.1038/s41598-019-40118-3.

4.

Myasthenic congenital myopathy from recessive mutations at a single residue in NaV1.4.

Elia N, Palmio J, Castañeda MS, Shieh PB, Quinonez M, Suominen T, Hanna MG, Männikkö R, Udd B, Cannon SC.

Neurology. 2019 Mar 1. pii: 10.1212/WNL.0000000000007185. doi: 10.1212/WNL.0000000000007185. [Epub ahead of print]

PMID:
30824560
5.

Whole slide imaging equivalency and efficiency study: experience at a large academic center.

Hanna MG, Reuter VE, Hameed MR, Tan LK, Chiang S, Sigel C, Hollmann T, Giri D, Samboy J, Moradel C, Rosado A, Otilano JR 3rd, England C, Corsale L, Stamelos E, Yagi Y, Schüffler PJ, Fuchs T, Klimstra DS, Sirintrapun SJ.

Mod Pathol. 2019 Feb 18. doi: 10.1038/s41379-019-0205-0. [Epub ahead of print]

PMID:
30778169
6.

Adult-onset Leigh syndrome linked to the novel stop codon mutation m.6579G>A in MT-CO1.

Poole OV, Everett CM, Gandhi S, Marino S, Bugiardini E, Woodward C, Lam A, Quinlivan R, Hanna MG, Pitceathly RDS.

Mitochondrion. 2019 Feb 8. pii: S1567-7249(18)30175-2. doi: 10.1016/j.mito.2019.02.004. [Epub ahead of print]

PMID:
30743023
7.

Dexmedetomidine versus Magnesium as Adjuvants to Bupivacaine-Induced Caudal Block in Children: A Randomized, Double-Blinded, Placebo-Controlled, Trial.

Refaee HH, Elela AHA, Hanna MG, Ali MA, Khateeb AME.

Open Access Maced J Med Sci. 2019 Jan 12;7(1):73-76. doi: 10.3889/oamjms.2019.024. eCollection 2019 Jan 15.

8.

Vestibular dysfunction: a frequent problem for adults with mitochondrial disease.

Holmes S, Male AJ, Ramdharry G, Woodward C, James N, Skorupinska I, Skorupinska M, Germain L, Kozyra D, Bugiardini E, Poole OV, Quinlivan R, Hanna MG, Kaski D, Pitceathly RDS.

J Neurol Neurosurg Psychiatry. 2018 Nov 26. pii: jnnp-2018-319267. doi: 10.1136/jnnp-2018-319267. [Epub ahead of print] No abstract available.

9.

Advantage of Z-stacking for teleconsultation between the USA and Colombia.

Mosquera-Zamudio A, Hanna MG, Parra-Medina R, Piedrahita AC, Rodriguez-Urrego PA, Pantanowitz L.

Diagn Cytopathol. 2019 Jan;47(1):35-40. doi: 10.1002/dc.23992. Epub 2018 Nov 20.

PMID:
30457226
10.

A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms.

Sampedro Castañeda M, Zanoteli E, Scalco RS, Scaramuzzi V, Marques Caldas V, Conti Reed U, da Silva AMS, O'Callaghan B, Phadke R, Bugiardini E, Sud R, McCall S, Hanna MG, Poulsen H, Männikkö R, Matthews E.

Brain. 2018 Dec 1;141(12):3308-3318. doi: 10.1093/brain/awy283.

11.

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.

Ghosh SG, Becker K, Huang H, Dixon-Salazar T, Chai G, Salpietro V, Al-Gazali L, Waisfisz Q, Wang H, Vaux KK, Stanley V, Manole A, Akpulat U, Weiss MM, Efthymiou S, Hanna MG, Minetti C, Striano P, Pisciotta L, De Grandis E, Altmüller J, Nürnberg P, Thiele H, Yis U, Okur TD, Polat AI, Amiri N, Doosti M, Karimani EG, Toosi MB, Haddad G, Karakaya M, Wirth B, van Hagen JM, Wolf NI, Maroofian R, Houlden H, Cirak S, Gleeson JG.

Am J Hum Genet. 2018 Nov 1;103(5):826. doi: 10.1016/j.ajhg.2018.10.002. No abstract available.

12.

Mutations in GFAP Disrupt the Distribution and Function of Organelles in Human Astrocytes.

Jones JR, Kong L, Hanna MG 4th, Hoffman B, Krencik R, Bradley R, Hagemann T, Choi J, Doers M, Dubovis M, Sherafat MA, Bhattacharyya A, Kendziorski C, Audhya A, Messing A, Zhang SC.

Cell Rep. 2018 Oct 23;25(4):947-958.e4. doi: 10.1016/j.celrep.2018.09.083.

13.

Pathogenic TFG Mutations Underlying Hereditary Spastic Paraplegia Impair Secretory Protein Trafficking and Axon Fasciculation.

Slosarek EL, Schuh AL, Pustova I, Johnson A, Bird J, Johnson M, Frankel EB, Bhattacharya N, Hanna MG, Burke JE, Ruhl DA, Quinney K, Block S, Peotter JL, Chapman ER, Sheets MD, Butcher SE, Stagg SM, Audhya A.

Cell Rep. 2018 Aug 28;24(9):2248-2260. doi: 10.1016/j.celrep.2018.07.081.

14.

Validation of MRC Centre MRI calf muscle fat fraction protocol as an outcome measure in CMT1A.

Morrow JM, Evans MRB, Grider T, Sinclair CDJ, Thedens D, Shah S, Yousry TA, Hanna MG, Nopoulos P, Thornton JS, Shy ME, Reilly MM.

Neurology. 2018 Sep 18;91(12):e1125-e1129. doi: 10.1212/WNL.0000000000006214. Epub 2018 Aug 17.

15.

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.

Ghosh SG, Becker K, Huang H, Dixon-Salazar T, Chai G, Salpietro V, Al-Gazali L, Waisfisz Q, Wang H, Vaux KK, Stanley V, Manole A, Akpulat U, Weiss MM, Efthymiou S, Hanna MG, Minetti C, Striano P, Pisciotta L, De Grandis E, Altmüller J, Nürnberg P, Thiele H, Yis U, Okur TD, Polat AI, Amiri N, Doosti M, Karimani EG, Toosi MB, Haddad G, Karakaya M, Wirth B, van Hagen JM, Wolf NI, Maroofian R, Houlden H, Cirak S, Gleeson JG.

Am J Hum Genet. 2018 Sep 6;103(3):431-439. doi: 10.1016/j.ajhg.2018.07.010. Epub 2018 Aug 9. Erratum in: Am J Hum Genet. 2018 Nov 1;103(5):826.

16.

A simple supported tubulated bilayer system for evaluating protein-mediated membrane remodeling.

Schenk NA, Dahl PJ, Hanna MG 4th, Audhya A, Tall GG, Knight JD, Anantharam A.

Chem Phys Lipids. 2018 Sep;215:18-28. doi: 10.1016/j.chemphyslip.2018.06.002. Epub 2018 Jul 22.

PMID:
30012406
17.

The Diagnostic Value of MRI Pattern Recognition in Distal Myopathies.

Bugiardini E, Morrow JM, Shah S, Wood CL, Lynch DS, Pitmann AM, Reilly MM, Houlden H, Matthews E, Parton M, Hanna MG, Straub V, Yousry TA.

Front Neurol. 2018 Jun 26;9:456. doi: 10.3389/fneur.2018.00456. eCollection 2018.

18.

SetSVM: An Approach to Set Classification in Nuclei-Based Cancer Detection.

Liu C, Huang Y, Ozolek JA, Hanna MG, Singh R, Rohde GK.

IEEE J Biomed Health Inform. 2019 Jan;23(1):351-361. doi: 10.1109/JBHI.2018.2803793. Epub 2018 Feb 8.

PMID:
29994380
19.

Hypokalaemic periodic paralysis and myotonia in a patient with homozygous mutation p.R1451L in NaV1.4.

Luo S, Sampedro Castañeda M, Matthews E, Sud R, Hanna MG, Sun J, Song J, Lu J, Qiao K, Zhao C, Männikkö R.

Sci Rep. 2018 Jun 26;8(1):9714. doi: 10.1038/s41598-018-27822-2.

20.

The analysis of myotonia congenita mutations discloses functional clusters of amino acids within the CBS2 domain and the C-terminal peptide of the ClC-1 channel.

Altamura C, Lucchiari S, Sahbani D, Ulzi G, Comi GP, D'Ambrosio P, Petillo R, Politano L, Vercelli L, Mongini T, Dotti MT, Cardani R, Meola G, Lo Monaco M, Matthews E, Hanna MG, Carratù MR, Conte D, Imbrici P, Desaphy JF.

Hum Mutat. 2018 Sep;39(9):1273-1283. doi: 10.1002/humu.23581. Epub 2018 Jul 4.

PMID:
29935101

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