Concepedia

Infantile-onset ascending hereditary spastic paraplegia with bulbar involvement due to the novel ALS2 mutation c.2761C > T

Salma M. Wakil, Khushnooda Ramzan, Rula Abuthuraya, Samya Hagos, Haya M. AlDossari, Rana Alomar, Hatem Murad, Aziza Chedrawi, Zuhair N. Al‐Hassnan, Josef Finsterer,

Gene · 2013 · 32 citations · 14 references

DOI

Concepts

References

14

A simple salting out procedure for extracting DNA from human nucleated cells

S.A. Miller, Dale D. Dykes, Herbert F. Polesky · Nucleic Acids Research · 1988 · 20.6K citations · Full text

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The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis

Yi Yang, Afif Hentati, Han‐Xiang Deng et al. · Nature Genetics · 2001 · 732 citations

, , +12

A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2

Collette K. Hand, Hitoshi Osuga, Yoshiko Yanagisawa et al. · Nature Genetics · 2001 · 676 citations

, , +14

PRIMARY LATERAL SCLEROSIS: CLINICAL FEATURES, NEUROPATHOLOGY AND DIAGNOSTIC CRITERIA

C. Elizabeth Pringle, Anna Hudson, David G. Muñoz et al. · Brain · 1992 · 429 citations

, , +17

ALS2, a novel guanine nucleotide exchange factor for the small GTPase Rab5, is implicated in endosomal dynamics

Asako Otomo · Human Molecular Genetics · 2003 · 246 citations · Full text

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