PMC Links for Books (Select 1476368) - PMC - NCBI

Result Filters

Links from Books

Items: 7

Select item 81156351.

Genetic analysis of ALS cases in the isolated island population of Malta

Rebecca Borg, Maia Farrugia Wismayer, Karl Bonavia, Andrew Farrugia Wismayer, Malcolm Vella, Joke J. F. A. van Vugt, Brendan J. Kenna, Kevin P. Kenna, Neville Vassallo, Jan H. Veldink, Ruben J. Cauchi

Eur J Hum Genet. 2021 Apr; 29(4): 604–614. Published online 2021 Jan 7. doi: 10.1038/s41431-020-00767-9

PMCID:: PMC8115635

Abstract Article PDF–1.0M

Select item 80533392.

Value of systematic genetic screening of patients with amyotrophic lateral sclerosis

Stephanie R Shepheard, Matthew D Parker, Johnathan Cooper-Knock, Nick S Verber, Lee Tuddenham, Paul Heath, Nick Beauchamp, Elsie Place, Elizabeth S A Sollars, Martin R Turner, Andrea Malaspina, Pietro Fratta, Channa Hewamadduma, Thomas M Jenkins, Christopher J McDermott, Dennis Wang, Janine Kirby, Pamela J Shaw, the Project MinE

J Neurol Neurosurg Psychiatry. 2021 May; 92(5): 510–518. Published online 2021 Feb 14. doi: 10.1136/jnnp-2020-325014

PMCID:: PMC8053339

Abstract Article PDF–1.2M

Select item 80438973.

ALS2-related disorders in Spanish children

Enrique Nogueira, Juana Alarcón, Carmen Garma, Cecilia Paredes

Neurol Sci. 2021; 42(5): 2091–2094. Published online 2021 Jan 7. doi: 10.1007/s10072-020-04899-0

PMCID:: PMC8043897

Abstract Article PDF–651K

Select item 62931964.

KIF5A and ALS2 Variants in a Family With Hereditary Spastic Paraplegia and Amyotrophic Lateral Sclerosis

Marta Simone, Antonio Trabacca, Elena Panzeri, Luciana Losito, Andrea Citterio, Maria Teresa Bassi

Front Neurol. 2018; 9: 1078. Published online 2018 Dec 7. doi: 10.3389/fneur.2018.01078

PMCID:: PMC6293196

Abstract Article PDF–876K

Select item 54293605.

The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies

Peter D. Stenson, Matthew Mort, Edward V. Ball, Katy Evans, Matthew Hayden, Sally Heywood, Michelle Hussain, Andrew D. Phillips, David N. Cooper

Hum Genet. 2017; 136(6): 665–677. Published online 2017 Mar 27. doi: 10.1007/s00439-017-1779-6

PMCID:: PMC5429360

Abstract Article PDF–1.1M

Select item 39629906.

ALS2 mutations: Juvenile amyotrophic lateral sclerosis and generalized dystonia

Una-Marie Sheerin, Susanne A. Schneider, Lucinda Carr, Guenther Deuschl, Franziska Hopfner, Maria Stamelou, Nicholas W. Wood, Kailash P. Bhatia

Neurology. 2014 Mar 25; 82(12): 1065–1067. doi: 10.1212/WNL.0000000000000254

PMCID:: PMC3962990

Abstract Article PDF–182K

Select item 3791897.

Infantile-Onset Ascending Hereditary Spastic Paralysis Is Associated with Mutations in the Alsin Gene

Eleonore Eymard-Pierre, Gaetan Lesca, Sandra Dollet, Filippo Maria Santorelli, Matteo di Capua, Enrico Bertini, Odile Boespflug-Tanguy

Am J Hum Genet. 2002 Sep; 71(3): 518–527. Published online 2002 Jul 26. doi: 10.1086/342359

PMCID:: PMC379189

Abstract Article PDF–270K

Supplemental Content

Filter your results:

Manage Filters

Find related data

Recent activity

Clear Turn Off Turn On

PMC Links for Books (Select 1476368) (7)
PMC

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

You are here: NCBI > Literature > PubMed Central (PMC)